| Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, Peroneal mu... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Decreased nerve conduction velocity, Decreased number of large peri... |
ORPHA:90103 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
| Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration, Plantar flexion contr... |
OMIM:620011 |
| Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral myelinat... |
OMIM:604484 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Atrioventricular ... |
DECIPHER:39 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... |
OMIM:620068 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Cerebellar atrophy, Peri... |
OMIM:302800 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Upper limb muscle weakness, Axonal degeneration, Lower limb muscle weakness, Foot dorsiflexor wea... |
OMIM:616155 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve... |
OMIM:604320 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Brachial plexus neuropathy, Axonal degen... |
OMIM:162100 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Axonal degeneration, Distal amyotrophy, Weakness of facial musculature, Foot... |
OMIM:618811 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Myopathy, Myofibrillar, 5 |
|
Abnormal peripheral nervous system morphology, Myofibrillar myopathy, Muscle fiber cytoplasmatic ... |
OMIM:609524 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
| Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Acute rhabdomyolysis, ... |
OMIM:604168 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Lymphadenopathy |
ORPHA:52416 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
| Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
| Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Temporal ... |
OMIM:167320 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
| Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Angulated muscle fibers, Decreased number of large peripheral myelinated ne... |
OMIM:608340 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Sandhoff Disease, Adult Form |
|
Muscle fiber atrophy, Upper limb muscle weakness, Sensory axonal neuropathy, Proximal muscle weak... |
ORPHA:309169 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... |
ORPHA:276435 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of large peripheral myelinat... |
OMIM:208920 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
| Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
| Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
| Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Rhabdomyolysis, Ragged-red muscle fibers, ... |
OMIM:617070 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
| Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:620270 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
| Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers... |
OMIM:160500 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
| Merrf |
|
Myopathy, Ragged-red muscle fibers, Optic atrophy |
ORPHA:551 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
| Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi... |
ORPHA:478029 |
| Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
| Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Decreased compound muscle action potential amplitude, Flexion contracture, Shoulder... |
OMIM:603511 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
| Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic h... |
ORPHA:100083 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... |
OMIM:606070 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy |
OMIM:616811 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
| Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... |
OMIM:609285 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
| Coffin-Siris Syndrome 8 |
|
Cryptorchidism, Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
| Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... |
OMIM:300696 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy |
ORPHA:86893 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... |
ORPHA:52430 |
| Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... |
ORPHA:171445 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
| Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
| Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Axonal degeneration, Abnormal sensory nerve conduction velocity, Camptodactyly, Abnormal peripher... |
ORPHA:88628 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Mitral valve prolapse, Recurrent hand f... |
OMIM:300624 |
| Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... |
OMIM:256030 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Congenital diaphragmatic hernia |
ORPHA:438134 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fiber... |
ORPHA:254886 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Ataxia, Infertility, Testicular atrophy |
OMIM:613909 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
| Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Distal amyotrophy, Neurodegeneration, Motor axonal neuropathy |
OMIM:615643 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
| Morm Syndrome |
|
Hyperactivity, Micropenis, Aggressive behavior |
ORPHA:75858 |
| Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
| Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Abnormal motor nerve conduction velocity, Increased variab... |
OMIM:614399 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, Facial diplegia, Generalized am... |
OMIM:609560 |
| Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Upper limb muscle... |
ORPHA:99013 |
| Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
| Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Axonal loss, Neurodegeneration, Peripheral demyelination, C... |
OMIM:617672 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ... |
ORPHA:139399 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300718 |
| Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:608971 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... |
ORPHA:399086 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
| Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
| Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... |
OMIM:235200 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... |
ORPHA:86812 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, ... |
OMIM:271245 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, Cryptorchidism... |
ORPHA:3306 |
| Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula... |
ORPHA:481 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619126 |
| Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... |
ORPHA:353327 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, N... |
OMIM:616239 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:300816 |
| Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... |
ORPHA:59135 |
| Myopathy, Distal, 3 |
|
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... |
OMIM:610099 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Optic atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity |
OMIM:300143 |
| Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb... |
ORPHA:248111 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Centrally nucleated skeletal muscle fibers, Optic atrophy, Increase... |
ORPHA:401768 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
| Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-... |
ORPHA:228402 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
| Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
| Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
| Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... |
OMIM:605355 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
| Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
| Central Core Disease |
|
Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea... |
ORPHA:597 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Neurodegeneration, ... |
OMIM:245200 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Ragged-red muscle fibers, Diffuse cerebellar atrophy |
ORPHA:477774 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... |
OMIM:256600 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Lymphadenopathy, Cardiomegaly |
ORPHA:858 |
| Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Pulmon... |
OMIM:620141 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Dpm3-Cdg |
|
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness |
ORPHA:263494 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contractu... |
OMIM:616867 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration |
OMIM:615889 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Optic atroph... |
OMIM:258450 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
| Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Impotence, Cardiomegaly |
ORPHA:85447 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles... |
ORPHA:98913 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy, Dysphagia |
ORPHA:50251 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Flexion contracture, Elbow flexion contracture, Kne... |
OMIM:214150 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
| De Sanctis-Cacchione Syndrome |
|
Cerebral atrophy, Axonal degeneration, Optic atrophy, Global brain atrophy |
OMIM:278800 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy |
OMIM:160900 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp... |
ORPHA:485405 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta... |
ORPHA:329478 |
| Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
| Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... |
OMIM:618484 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Di... |
OMIM:300280 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotropic hypogonadism, Cr... |
OMIM:308750 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Cardiomegaly, Choreoathetosis, Dysphagia, Loss of ambulation, Hypertrophic cardiomy... |
ORPHA:391428 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Generalized amyo... |
OMIM:615084 |
| Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Muscle fiber atrophy, Flexion contracture, Cerebral cortical atrophy, Brain atrophy |
OMIM:620240 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Left ventricular noncompaction, Inc... |
OMIM:252011 |
| Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Lower limb hypertonia, Ragged-red muscle fibers |
OMIM:610246 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
| Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Hyperthyroidism, Diabetes mellitus, Aggressive behavior, Hypothyroidism, Depressio... |
ORPHA:449291 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
| Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Hypospadias, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Pineal... |
OMIM:617516 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Atrophy/Degeneration affec... |
OMIM:616479 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Diabetes insipidus, Cardiomyopathy, Dysphagia, Hypothyroidism, Testicu... |
OMIM:222300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal degeneration, Cerebral atrophy, Ne... |
OMIM:615157 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Depression, Cardiomyopathy, Gait d... |
OMIM:619259 |
| Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Abnormal autonomic nervous system physiology, Cerebral atr... |
OMIM:300894 |
| Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Dysphoria, Depression, Attenti... |
OMIM:620242 |
| Cap Myopathy |
|
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... |
ORPHA:171881 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Attention deficit hyperactivity disorder, Depression |
OMIM:618798 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... |
OMIM:254090 |
| Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... |
OMIM:255200 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Optic atrophy, Dist... |
OMIM:614298 |
| Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion ... |
OMIM:248800 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... |
OMIM:620285 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormal lymph node morphology |
ORPHA:543 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Generalized lymphadenopathy, Follicular hyperplasia, Splenomegaly, Mediastinal lymp... |
OMIM:615559 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... |
OMIM:255310 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Centrally nucleated skelet... |
ORPHA:169189 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98855 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contracture, Increased variability... |
OMIM:616866 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Dysmetria, Cardiomyopathy |
OMIM:256550 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Low frustration tolerance, Microphallu... |
OMIM:300486 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... |
ORPHA:486815 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:100025 |
| Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:100024 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Hypothyroidism, Spl... |
ORPHA:465508 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian... |
ORPHA:83469 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Flexion contracture, Optic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:615491 |
| Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci... |
ORPHA:169186 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:603552 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Inability to walk, Splenomegaly, Lymphadenopathy, Irritability, Athetosis |
OMIM:257200 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98863 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Low frustration tol... |
ORPHA:163681 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... |
ORPHA:98853 |
| Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ... |
OMIM:617258 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ragged-red muscle fibers |
OMIM:615159 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Impotence, Gait disturbance... |
ORPHA:43 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy, Weakness of facia... |
ORPHA:352447 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Hyperactivity, Ventricular septal defect, Aggressive behavior, Low frustrat... |
OMIM:309520 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurrent hand flappi... |
OMIM:617600 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Ragged-red muscle fibers |
OMIM:500003 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General... |
ORPHA:324604 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Pheochromocytoma, Elevated circulating c... |
ORPHA:1332 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Peripheral axonal neuropathy, D... |
ORPHA:298 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
| Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
| Leishmaniasis |
|
Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy |
ORPHA:507 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
| Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... |
OMIM:609981 |
| Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coronary artery fistula, ... |
OMIM:614294 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Ragged-red muscle fibers, Limb muscle weakness, Cerebral atrophy, EMG: myopathic abnormalities, S... |
OMIM:609286 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, ... |
ORPHA:85450 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... |
ORPHA:178148 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Abnormal testis morphology, Abnormality of the lymphatic system |
ORPHA:54251 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Upper-limb joint contracture, Distal amyo... |
ORPHA:300605 |
| Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy |
OMIM:609242 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
| Classic Mycosis Fungoides |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:2584 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers |
OMIM:618416 |
| King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph... |
OMIM:619542 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Greig Cephalopolysyndactyly Syndrome |
|
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology |
OMIM:175700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Ataxia, Cardiomegaly, Inability to walk, Cryptorchidism, Gait disturbance, Inapprop... |
OMIM:618143 |
| Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Central nervous system degeneration, In... |
ORPHA:447788 |
| Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Schnitzler Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:37748 |
| Legionnaires Disease |
|
Pericarditis, Ataxia, Anorexia, Myocarditis, Splenomegaly, Endocarditis, Lymphadenopathy, Bone ma... |
ORPHA:549 |
| Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fi... |
ORPHA:1320 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Hepatomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Peripheral axonal neuropathy, Centrally nucleated skel... |
OMIM:607459 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Anorexia, Chronic noninfectious lymphaden... |
ORPHA:100080 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Ataxia, Hypospadias,... |
ORPHA:209905 |
| Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ataxia, Cardiomegaly |
ORPHA:42 |
| Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
| Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... |
OMIM:157640 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Ataxia, Cardiomegaly |
OMIM:266500 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
| Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... |
ORPHA:206569 |
| Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... |
ORPHA:79330 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Limb ataxia, Cardiomyopathy, Impotence, Truncal ataxia |
OMIM:105210 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy |
OMIM:616897 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Hepatomegaly, Thyroiditis, Lymphadenopathy |
OMIM:619375 |
| Primary Myelofibrosis |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hyperactivity, Ataxia, Abnormal mitral valve morphology, Aggressive behavior, Cardi... |
ORPHA:581 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle hypertrophy, Muscle fi... |
OMIM:618733 |
| Sandhoff Disease |
|
Hepatomegaly, Ataxia, Cardiomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
| Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Lymphadenopathy, Type II diabetes mellitus, Hy... |
ORPHA:99812 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
| Rhabdoid Tumor |
|
Irritability, Lymphadenopathy |
ORPHA:69077 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
| Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:607594 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Addictive alcohol use, Left ventricular hype... |
ORPHA:57777 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Joint contracture, Neurodegeneration, Congenital diaphragmatic hernia |
OMIM:615919 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, Neonatal death |
OMIM:608013 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... |
OMIM:620351 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Ataxia, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lympha... |
ORPHA:36412 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Anorexia, Elevated circulating growth hor... |
ORPHA:97287 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Hypokalemic Periodic Paralysis |
|
Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology |
ORPHA:681 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy... |
ORPHA:97289 |
| Lesch-Nyhan Syndrome |
|
Choreoathetosis, Self-injurious behavior, Testicular atrophy, Dysphagia |
OMIM:300322 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ataxia, Left ventricular noncompaction cardiomyopathy, Impulsivity, Aggressive behavior, Cardiome... |
OMIM:300967 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:618495 |
| Gm2 Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
| Indolent Systemic Mastocytosis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:98848 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
| Immunodeficiency 105 |
|
Absence of lymph node germinal center, Hepatosplenomegaly |
OMIM:619924 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Inability to walk, Tip-toe gait, Dysphagia, Right ventricular hypertrophy |
ORPHA:268 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
| Griscelli Syndrome |
|
Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:381 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Anorexia, Chronic noninfectious lymphaden... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Anorexia, Chronic noninfectious lymphaden... |
ORPHA:100082 |
| Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
| Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
| Adrenoleukodystrophy |
|
Neurodegeneration, Lower limb muscle weakness |
OMIM:300100 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Cardiomegaly |
OMIM:618886 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
| Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Bone marrow hypocellularity |
OMIM:613987 |
| Gamma-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Dysphagia |
ORPHA:100026 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Hepatomegaly, Cervical lymphadenopathy, Lymphadenopathy |
OMIM:614034 |
| Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly |
ORPHA:98850 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
| Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Acute rhabdomyolysis, Rhabdomyolysis, Optic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:616878 |
| Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Cholelithiasis, Priapism |
OMIM:603903 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Facial palsy |
OMIM:606407 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism |
OMIM:617713 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration, Hypomimic face |
OMIM:606159 |
| Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Neurodegeneration, Abnormal autonomic nervous s... |
OMIM:146500 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... |
OMIM:620278 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:56425 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Cardiomegaly |
OMIM:618838 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
| Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Epididymitis, Abnormality of the lymphatic system, Vaginal hydrocele, Ly... |
ORPHA:2035 |
| Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Sple... |
ORPHA:781 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
| Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Immunodeficiency 7 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:615387 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha... |
OMIM:603909 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79477 |
| H Syndrome |
|
Diabetes mellitus, Hepatosplenomegaly, Lymphadenopathy, Azoospermia, Hypogonadism, Delayed pubert... |
ORPHA:168569 |
| Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, Congenital contracture, Flexion contracture, Centrally nucle... |
OMIM:615368 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:911 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, L... |
OMIM:602450 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:308240 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Splenomegaly, Myocarditis, Cervical ... |
ORPHA:50918 |
| Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration, Macroglossia, Flexion contracture, Papilledema |
OMIM:309900 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Acute Promyelocytic Leukemia |
|
Metrorrhagia, Addictive alcohol use, Anorexia, Lymphadenopathy |
ORPHA:520 |
| Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:613011 |
| Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Distal amyotrophy, Brain atrophy, Increased variability in mus... |
OMIM:164310 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Atrophy/Degeneration involving the spinal cord, Increased variability in muscle fiber diameter, R... |
ORPHA:70595 |
| Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Pericardial effusion, Primary adrenal ins... |
ORPHA:2905 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619644 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy |
ORPHA:369840 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Ragged-red muscle fibers |
ORPHA:1349 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Hepatosplenomegaly, Lymphadenopathy, Ovar... |
ORPHA:1333 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Scrub Typhus |
|
Myocarditis, Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Irritability |
OMIM:267700 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:47612 |
| Cinca Syndrome |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
| Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Thyroiditis, Lymphadenopathy, Hypothyroidism |
ORPHA:39041 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ragged-red muscle fibers, Decreased level of coenzy... |
OMIM:607426 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Splenomegaly, Myocarditis, Bone marrow h... |
ORPHA:829 |
| Carney Triad |
|
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma,... |
ORPHA:139411 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Sézary Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:3162 |
| Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s... |
OMIM:619574 |
| Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Ataxia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Irritability |
OMIM:603553 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:424 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:610217 |
| Behçet Disease |
|
Pericarditis, Ataxia, Anorexia, Orchitis, Splenomegaly, Endocarditis, Lymphadenopathy, Irritabili... |
ORPHA:117 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Neurodegeneration, Optic atrophy |
OMIM:618476 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618935 |
| Acute Monoblastic/Monocytic Leukemia |
|
Cervical lymphadenopathy, Anorexia, Central hypothyroidism |
ORPHA:514 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
| Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Mixed Connective Tissue Disease |
|
Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:809 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Neurodegeneration, Cerebral atrophy |
OMIM:618321 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Anorexia, Chronic noninfectious lymphaden... |
ORPHA:100075 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Ataxia, Lymphadenopathy |
ORPHA:343 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Pontocere... |
ORPHA:258 |
| Mevalonic Aciduria |
|
Ataxia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Hepatosplenomegaly, Lymphadenopathy, ... |
OMIM:610377 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Peripheral axonal neuropathy, Elbow flexion contracture, EMG: myopathic ab... |
ORPHA:1900 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Waldenström Macroglobulinemia |
|
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy |
ORPHA:33226 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy |
OMIM:600462 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Facial palsy, Quadriceps muscle weakness, Ragge... |
ORPHA:254892 |
| Brucellosis |
|
Hepatomegaly, Pericarditis, Anorexia, Orchitis, Splenomegaly, Myocarditis, Epididymitis, Hyperspl... |
ORPHA:1304 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Lymphadenopathy, Cardiomyopathy |
OMIM:615895 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
| Papa Syndrome |
|
Type I diabetes mellitus, Lymphadenopathy |
ORPHA:69126 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
| Cinca Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:1451 |
| Snakebite Envenomation |
|
Rhabdomyolysis, Muscle fiber necrosis |
ORPHA:449285 |
| Immunodeficiency 97 With Autoinflammation |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619802 |
| Boutonneuse Fever |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
| Fucosidosis |
|
Hepatomegaly, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Ataxia, Splenomegaly, Dilated cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy, ... |
OMIM:615688 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Cardiomegaly, Secundum atrial ... |
OMIM:300855 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Castleman Disease |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Lymphadenopathy... |
ORPHA:160 |
| Congenital Myasthenic Syndrome |
|
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:590 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... |
ORPHA:98914 |
| Mucopolysaccharidosis, Type Vii |
|
Macroglossia, Flexion contracture, Neurodegeneration, Diastasis recti |
OMIM:253220 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega... |
OMIM:614921 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:616100 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Cerebral cortical atrophy, Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Type I diabetes mellitus |
OMIM:301078 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Emotional lability, Lymphadenopathy, Depression |
ORPHA:101096 |
| Chediak-Higashi Syndrome |
|
Decreased nerve conduction velocity, Neurodegeneration, Foot dorsiflexor weakness |
OMIM:214500 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Splenomegaly, Thyroiditis, Lymphadenopathy, Type I diabetes mellitus |
ORPHA:436159 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes mellitus, Hyp... |
OMIM:606367 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy |
OMIM:618048 |
| Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Omenn Syndrome |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Lymphadenopathy |
OMIM:603554 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Hypospadias, Bicuspid aortic valve, Impulsivity, Aggressive behavior, Ventricular ... |
ORPHA:353281 |
| Hurler Syndrome |
|
Macroglossia, Flexion contracture, Neurodegeneration |
OMIM:607014 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis, Anorexia, Chronic noninfectious lymphadenopathy, Adrenocorticot... |
ORPHA:100079 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... |
OMIM:130650 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Difficulty walking, Cardiomegaly |
OMIM:232300 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:619183 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Splenomegaly, Thyroiditis, Lymphadenopathy, Type I diabetes mellitus... |
OMIM:614700 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content |
ORPHA:228302 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:79126 |
| Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
| Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Spastic gait, Cardiomegaly |
OMIM:230000 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:169090 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Melas |
|
Peripheral axonal neuropathy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Brain atrophy, A... |
ORPHA:550 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Orchitis, Splenomegaly, Lymphadenopathy, Abnormal myocardium morphology |
ORPHA:32960 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Myopathy, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... |
ORPHA:3384 |
| Polymyositis |
|
Abnormal muscle fiber morphology |
ORPHA:732 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
| Macrophage Activation Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:158061 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Thyroiditis, Lymphadenopathy |
ORPHA:139402 |
| Abetalipoproteinemia |
|
Hepatomegaly, Broad-based gait, Ataxia, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hypo... |
ORPHA:14 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
| Graft Versus Host Disease |
|
Irritability, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:39812 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Optic atrophy, Myopathy, Neurodegeneration, Cerebral degeneration, Global ... |
OMIM:234200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Optic atrophy, Muscular dystrophy |
OMIM:613154 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus... |
OMIM:613327 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Inability to walk, Cryptorchidism, Unsteady gait, Abnormality of the Leydig cells, T... |
ORPHA:3063 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... |
ORPHA:99889 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:540 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cardiomegaly, Hepatosplenomegaly, Irritability, Hypertrophic cardiomyopathy, D... |
ORPHA:51 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Irritability |
OMIM:618278 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Primary amenorrhea, Lymp... |
OMIM:619418 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Inability to walk, Difficulty walking, Dysphagia, Left ventricular hy... |
ORPHA:365 |
| African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Akinesia, Aggressive behavior, Abnormality of the endocrine system, A... |
ORPHA:3385 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:93552 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Hypothyroidism, Lymphadenopathy |
OMIM:304790 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Cerebral ... |
ORPHA:17 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Dysmetria, Compulsive behaviors, Atrial... |
ORPHA:904 |
| Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Tip-toe gait, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Anorexia, Orchitis, Pericardial effusion, Splenomegaly, Epididymitis, Myocarditis, ... |
ORPHA:99827 |
| Nephroblastoma |
|
Lymphadenopathy |
ORPHA:654 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology, Cholelithiasis, Annular panc... |
ORPHA:97297 |
| Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Increased intramyocellular lipid droplets, Lowe... |
ORPHA:79102 |
| Klatskin Tumor |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
| Chédiak-Higashi Syndrome |
|
Ataxia, Pericardial effusion, Inability to walk, Splenomegaly, Hepatosplenomegaly, Lymphadenopath... |
ORPHA:167 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Inappropriate antidiuretic hormone secretion, Hepatomegaly, Absence of lymph node germinal center... |
ORPHA:79124 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Familial Mediterranean Fever |
|
Orchitis, Splenomegaly, Pericarditis, Lymphadenopathy |
ORPHA:342 |
| Coccidioidomycosis |
|
Abnormal sperm morphology, Pericarditis, Abnormality of the endocrine system, Abnormality of the ... |
ORPHA:228123 |
| Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... |
ORPHA:98908 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Hypospadias, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Bili... |
OMIM:619991 |
| Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Anorexia |
ORPHA:100086 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Optic disc pallor, Optic neuropathy, Ragged-red musc... |
OMIM:252010 |
| Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Cryptorchidism, Adrenocortical carcinoma, ... |
ORPHA:116 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:617591 |
| Overlap Myositis |
|
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... |
ORPHA:206572 |
| Lymphangioleiomyomatosis |
|
Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Abnormal morphology of fe... |
ORPHA:538 |
| Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
| Native American Myopathy |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... |
ORPHA:168572 |
| Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Left ventri... |
ORPHA:31150 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries |
ORPHA:137675 |
| Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Splenomegaly, Mediasti... |
OMIM:181000 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Premature ovarian insufficiency, Chronic noninfectious lymphadenopathy, Hyperspleni... |
ORPHA:3261 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
| Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Thyroiditis, Lymphadenopathy,... |
ORPHA:37042 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
| Pancreatoblastoma |
|
Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Elevated circulating thyroid-stimulating ... |
OMIM:256040 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:98849 |
| Nijmegen Breakage Syndrome |
|
Neurodegeneration, Rhabdomyosarcoma |
OMIM:251260 |
| Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
| Immunodeficiency 31C |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Lymphadenopathy, Delayed puberty, Hypothyroidism |
OMIM:614162 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphadenopathy, Hypothyroidism, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
| Hennekam Syndrome |
|
Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma |
ORPHA:2136 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Marburg Hemorrhagic Fever |
|
Pericarditis, Anorexia, Aggressive behavior, Orchitis, Lymphadenopathy |
ORPHA:99826 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Cervical lymphadenopathy, Irritabilit... |
ORPHA:2331 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Lymphadenopathy, Small intestine carcinoid, Pulmonic stenosis, Increased seru... |
ORPHA:100078 |
| Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
| Igg4-Related Submandibular Gland Disease |
|
Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morpho... |
ORPHA:449432 |
| Selective Igm Deficiency |
|
Lymphadenitis, Thyroid carcinoma, Hashimoto thyroiditis, Lymphadenopathy |
ORPHA:331235 |
| Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Caudate atrophy, Peripheral axonal neurop... |
ORPHA:2388 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ragged-red muscle fibers |
OMIM:614924 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Neurofibroma, Neurodegeneration, Peripheral demyelination |
OMIM:619475 |
| Plague |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Unsteady gait, Endocarditis, Depression, Enl... |
ORPHA:707 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Lymphadenopathy |
OMIM:607944 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Ragged-red muscle fibers, Optic atrophy, Segmental peripheral demyelination/remyelination |
ORPHA:255210 |
| Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy |
OMIM:617099 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anorexia, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Anoperineal fistula |
OMIM:619381 |
| Igg4-Related Ophthalmic Disease |
|
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Lymphaden... |
ORPHA:449563 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hepatomegaly, Abnormal pulmonary valve morphology, Lymphadenopathy |
ORPHA:667 |
| Acute Generalized Exanthematous Pustulosis |
|
Lymphadenopathy |
ORPHA:293173 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Lymphadenitis, Abnormality of the anterior pituitary, Thyroiditis, Lymphadenopathy,... |
ORPHA:449395 |
| Sarcoidosis |
|
Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Abnormal reproductive system morphology, Enlar... |
ORPHA:797 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Rhabdomyolysis, Ragged-red muscle fibers, Cerebellar atrophy, Cerebral atrophy |
OMIM:124000 |
| Common Variable Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
| Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Distal amyotrophy, Ragged-red muscle fibers |
OMIM:603041 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, Anorexia, Lymphadenopathy |
ORPHA:509 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy, Depression |
ORPHA:324625 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Lymphadenopathy |
OMIM:617718 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
| Primary Sjögren Syndrome |
|
Thyroiditis, Lymphadenopathy, Depression, Vaginal dryness, Parotitis |
ORPHA:289390 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi... |
ORPHA:79078 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca... |
ORPHA:51608 |
| Blau Syndrome |
|
Splenomegaly, Abnormal salivary gland morphology, Pericarditis, Lymphadenopathy |
ORPHA:90340 |
| Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
| Systemic Lupus Erythematosus |
|
Lymphadenopathy, Depression |
ORPHA:536 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Flexion contracture, Knee flexion contracture, Distal a... |
OMIM:259050 |
| Singleton-Merten Syndrome 1 |
|
Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular ... |
OMIM:182250 |
| Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
