| Myositis |
|
Myositis |
OMIM:160750 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Distal amyotrophy, Nonprogressive muscular atrophy, Cachexia |
ORPHA:1216 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Proximal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Scapula... |
OMIM:253600 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Calf muscle hypertrophy, Myositis, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy |
ORPHA:565899 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myopathy, Skeletal muscle atrophy, Muscle fiber atrophy, Centrally nucleated skeletal muscle fibe... |
OMIM:615422 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Autophagic vacuoles, Distal amyotrophy, Type 1 muscle fiber predominance, Proximal muscle weaknes... |
OMIM:618655 |
| Gne Myopathy |
|
Lower limb amyotrophy, Shoulder girdle muscle weakness, Hip flexor weakness, Lower limb muscle we... |
ORPHA:602 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Neck flexor weakness, Muscle fiber splitting, Type 1 muscle fiber predominance, Necrotizing myopa... |
ORPHA:178464 |
| Spinal Muscular Atrophy, Facioscapulohumeral Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Z-band str... |
OMIM:617158 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Distal amyotrophy, Type 1 muscle fiber predominance, Lower limb muscle weakness, Short stature, D... |
OMIM:619042 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness, Fatty replacement of skeletal ... |
OMIM:618848 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Progressive proximal muscle weakness, Autophagic vacuoles, Facial diplegia, Neck muscle weakness,... |
ORPHA:399058 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Shoulder girdle muscle weakness, Autophagic vacuoles, Reduced maximal inspiratory pressure, EMG: ... |
ORPHA:266 |
| Focal Myositis |
|
Myositis |
ORPHA:48918 |
| Oculopharyngodistal Myopathy 2 |
|
Bulbar palsy, Weakness of facial musculature, EMG: myopathic abnormalities, External ophthalmople... |
OMIM:618940 |
| Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Proximal muscle weakness in lower limbs, Myopathy, Skin rash, Skeletal muscle atroph... |
ORPHA:206569 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:619324 |
| Papa Syndrome |
|
Increased inflammatory response, Pustule, Arthritis, Acne, Crohn's disease, Myositis |
ORPHA:69126 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Proximal amyotrophy, Shoulder girdle muscle weakness, Neck flexor weakness, Shoulder girdle muscl... |
OMIM:254110 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Congenital Myopathy 14 |
|
Axial muscle weakness, Neck muscle weakness, Type 1 muscle fiber predominance, Weakness of facial... |
OMIM:618414 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in lower limbs, Distal lower limb muscle w... |
OMIM:601954 |
| Congenital Myopathy 8 |
|
Weak extraocular muscles, Type 1 muscle fiber predominance, Weakness of facial musculature, Muscl... |
OMIM:618654 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Respiratory insuffici... |
OMIM:301075 |
| Inclusion Body Myositis |
|
Skeletal muscle atrophy, Proximal muscle weakness, Abnormal muscle fiber morphology, Quadriceps m... |
ORPHA:611 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Abdominal wall muscle weakness, Proximal muscle weakness in lower limbs, Fiber type grouping, Wea... |
OMIM:619733 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Torticollis, Gowers sign, Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscle w... |
OMIM:613204 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Gowers sign, EMG: myopathic abnormalities, Proximal muscle weakness, Scapular winging, Limb-girdl... |
OMIM:608099 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Abdominal wall muscle weakness, Proximal muscle weakness in lower limbs, Myopathy, Muscle fiber i... |
OMIM:615424 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Poor head control, Respiratory insuffici... |
OMIM:300717 |
| Spinal Muscular Atrophy, Type Iv |
|
Quadriceps muscle atrophy, Proximal amyotrophy, Spinal muscular atrophy, Type 1 muscle fiber pred... |
OMIM:271150 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Myopathy, Neck muscle weakness, Type 1 muscle fiber predominance, Proximal muscle weakness, Scapu... |
OMIM:605637 |
| Eosinophilic Fasciitis |
|
Arthritis, Myositis, Muscular edema, Fasciitis |
ORPHA:3165 |
| Tibial Muscular Dystrophy |
|
Ankle weakness, Proximal muscle weakness in lower limbs, Peroneal muscle atrophy, Myopathy, EMG: ... |
ORPHA:609 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Proximal muscl... |
OMIM:617760 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Type 1 muscle fiber predominance, Central core regions in muscle fibers, Weakness of facial muscu... |
OMIM:117000 |
| Nemaline Myopathy 2 |
|
Bulbar palsy, Late-onset distal muscle weakness, Type 1 muscle fiber predominance, Respiratory in... |
OMIM:256030 |
| Tubular Aggregate Myopathy |
|
Fatiguable weakness of proximal limb muscles, Muscle fiber tubular inclusions, EMG: myopathic abn... |
ORPHA:2593 |
| Myopathy, Scapulohumeroperoneal |
|
Progressive muscle weakness, Neck flexor weakness, Wrist drop, Skeletal muscle atrophy, Nemaline ... |
OMIM:616852 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Poor head control, Muscle fiber splitting, Myopathy, Type 1 muscle fiber predominance, Knee flexi... |
OMIM:616313 |
| Myofibrillar Myopathy 11 |
|
Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, Gowers sign, EMG: myopathic abn... |
OMIM:619178 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Flexion contracture, Skeletal muscle atrophy, Myositis, Panniculitis |
OMIM:619183 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Diaphragmatic weakness, Shoulder girdle muscle weakness, Muscle fiber splitting, Neck flexor weak... |
OMIM:603689 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Gowers sign, Proximal muscle weakness, Muscle weakness, Limb-girdle muscular dystrophy,... |
OMIM:612937 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Proximal muscle weakne... |
OMIM:608807 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Abdominal wall muscle weakness, Proximal amyotrophy, Muscle fiber splitting, Myopathy, Proximal m... |
OMIM:618129 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Bethlem Myopathy 2 |
|
Myopathy, Proximal muscle weakness, Scapular winging, Muscle weakness, Increased variability in m... |
OMIM:616471 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Frontalis muscle weakness, Myopathy, Respiratory insufficiency due to muscle weakness, Short stat... |
OMIM:300580 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapuloperoneal weakness, Hamstring contractures, Skeletal muscle atrophy, Skeletal muscle hypert... |
OMIM:300696 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Distal lower limb muscle weakness, Neck muscle weakness,... |
OMIM:619566 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Skeletal muscle atrophy, Cachexia, Myopathy |
ORPHA:157973 |
| Adult-Onset Nemaline Myopathy |
|
Neck flexor weakness, Myopathy, Lower limb muscle weakness, Type 1 muscle fiber predominance, Res... |
ORPHA:171442 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Distal lower limb muscle weakness, Flexion contracture of finger, Increased endomysial connective... |
ORPHA:206549 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, Neck muscle weakness, EMG: myopathic abnormalities, Abnormal muscl... |
ORPHA:488650 |
| Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Gowers sign, Proximal muscle weakness, Increased variability in muscle f... |
OMIM:611615 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Myofibrillar myopathy, Fatty replacement of skeletal muscle, Abnormal muscle fiber morphology, Ri... |
ORPHA:34516 |
| Pyoderma Gangrenosum |
|
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule |
ORPHA:48104 |
| Myasthenic Syndrome, Congenital, 14 |
|
Gowers sign, Type 1 muscle fiber predominance, Weakness of facial musculature, Knee flexion contr... |
OMIM:616228 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Ragged-red muscle fibers, Weight loss |
OMIM:613662 |
| Myopathy, Distal, Tateyama Type |
|
Neck flexor weakness, Intrinsic hand muscle atrophy, Myopathy, Hand muscle weakness, Type 1 muscl... |
OMIM:614321 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Oligoarthritis, Maculopapular exanthema, Skin rash, Erysipelas, Conjunctivitis, Myositis |
OMIM:142680 |
| Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Muscle fiber splitting, Neck muscle weakness, Gowers sign, Myof... |
ORPHA:97240 |
| Myopathy, Tubular Aggregate, 1 |
|
Proximal amyotrophy, Myopathy, Type 1 muscle fiber predominance, External ophthalmoplegia, Proxim... |
OMIM:160565 |
| Idiopathic Camptocormia |
|
Abnormal muscle fiber dysferlin, EMG: myopathic abnormalities, Osteoarthritis, Fatty replacement ... |
ORPHA:1320 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Muscle fiber intracytoplasmic reducing inclusion bodies, Respiratory insufficiency due to muscle ... |
OMIM:300718 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities... |
OMIM:253601 |
| Graft Versus Host Disease |
|
Gastrointestinal inflammation, Acute hepatitis, Inflammatory abnormality of the skin, Maculopapul... |
ORPHA:39812 |
| Diencephalic Syndrome |
|
Decreased body weight, Cachexia |
ORPHA:1672 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Type 1 muscle fiber predominance, Muscle weakness, Axial muscle weakness, Tibialis anterior muscl... |
ORPHA:98905 |
| Oculopharyngodistal Myopathy 3 |
|
Neck muscle weakness, Distal amyotrophy, Weakness of facial musculature, Increased endomysial con... |
OMIM:619473 |
| Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased endomysial connective tissue, Centrally nucleated... |
OMIM:620246 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Diaphragmatic weakness, Torticollis, Knee flexion contracture, EMG: myopathic abnormalities, Micr... |
ORPHA:75840 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Lower limb amyotrophy, Upper limb amyotrophy, Muscle fiber splitting, Myopathy, Lower limb muscle... |
OMIM:616924 |
| Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Short nose, Mandibular prognathia, Short columella, Cleft palate, De... |
ORPHA:1248 |
| Congenital Myopathy 3 With Rigid Spine |
|
Poor head control, Minicore myopathy, Axial muscle weakness, Neck flexor weakness, Type 1 muscle ... |
OMIM:602771 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Neck flexor weakness, Gowers sign, Proximal muscle weakn... |
OMIM:618138 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Broad nasal tip, Short stature, Hypoplasia of the maxilla |
ORPHA:2776 |
| Genetic Recurrent Myoglobinuria |
|
Viral infection-induced rhabdomyolysis, Lower limb muscle weakness, Abnormality of jaw muscles, T... |
ORPHA:99845 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Proximal amyotrophy, Myopathy, Muscular dystrophy, Proximal muscle weakness, Scapular winging, Ce... |
OMIM:612999 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Neck muscle weakness, Muscular dystrophy, Respiratory insufficiency due to muscle weakness, Incre... |
OMIM:617066 |
| Childhood-Onset Nemaline Myopathy |
|
Arthrogryposis multiplex congenita, Facial diplegia, Myopathy, Neck muscle weakness, Type 1 muscl... |
ORPHA:171439 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Left ventricular hypertrophy, Type 1 muscle fiber predominance, Triceps weakness, Muscu... |
ORPHA:86812 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia, Decreased testicular size, Mandibular prognathia, Short stature, Hypoplasia of the ... |
ORPHA:93950 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Rhabdomyolysis, Proximal muscle weakness in lower limbs, Progressive proximal muscle weakness, Sk... |
OMIM:620138 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Malar rash, Pustule, Skin rash, Skeletal muscle atrophy, Pustular rash, Myositis |
OMIM:615934 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Proximal amyotrophy, Neck muscle weakness, Muscular dystrophy, Skeletal muscle atrophy, Proximal ... |
OMIM:614302 |
| Microphthalmia, Syndromic 12 |
|
Broad nasal tip, Cryptorchidism, Retrognathia, Micrognathia, Neonatal death, Wide nasal bridge, C... |
OMIM:615524 |
| Congenital Myopathy 10A, Severe Variant |
|
Diaphragmatic weakness, Camptodactyly of finger, Poor head control, Diaphragmatic paralysis, EMG:... |
OMIM:614399 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Gowers sign, Muscular dystrophy, Skeletal muscle hypertrophy, Proximal muscle weakness, Increased... |
OMIM:613157 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Contracture of the distal interphalangeal joint of the fingers, Muscular... |
OMIM:617072 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Minicore myopathy, Muscular dystrophy, Skeletal muscle atrophy, Nemaline bodies, External ophthal... |
OMIM:255320 |
| Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Weakness of facial musculature, EMG: myopathic abnormalities, External ophth... |
OMIM:619790 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Delayed puberty, Cryptorchidism, Minicore myopathy, Poor head control, Neck muscle weakness, Resp... |
ORPHA:486815 |
| Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Skin rash, Myositis, Arthritis, Sinusitis, Flexion contracture, Conjunctivitis, Panniculitis |
OMIM:617591 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Gowers sign, Type 1 muscle fiber predominance, Muscular dystrophy, Skelet... |
OMIM:253700 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Glomerulonephritis, Skin rash, Arthritis, Fasciitis, Hepatitis, Sinusit... |
ORPHA:36234 |
| Riboflavin Transporter Deficiency |
|
Facial palsy, Skeletal muscle atrophy, Cachexia, Limb muscle weakness |
ORPHA:97229 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Neck flexor weakness, Gowers sign, EMG: myopathic abnormalities, Right ventricular ... |
ORPHA:353 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Short nose, Depressed nasal ridge, Depressed nasal bridge,... |
ORPHA:1529 |
| Antisynthetase Syndrome |
|
Myocarditis, Myositis, Keratoconjunctivitis sicca, Skin rash |
ORPHA:81 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter |
ORPHA:238329 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Muscle weakness, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Steatorrhea, Fat malabsorption, Growth delay |
OMIM:613291 |
| Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Beevor's sign, Shoulder girdle muscle weakness, Muscle fiber splitting, Distal lower limb muscle ... |
ORPHA:437572 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Type 1 muscle fiber predomin... |
OMIM:613954 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Cryptorchidism, Gowers sign, Weakness of facial musculature, Flexion contracture of finger, Proxi... |
OMIM:618484 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Proximal muscle weakness, General... |
OMIM:255310 |
| Multiple Intestinal Atresia |
|
Duodenal stenosis, Gastrointestinal atresia |
ORPHA:2300 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Increased inflammatory response, Endocarditis, Tubulointerstitial nephritis, Skin ra... |
ORPHA:183 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Anteverted nares, Increased variability in muscle fiber diameter,... |
OMIM:617228 |
| Fusariosis |
|
Peritonitis, Keratitis, Maculopapular exanthema, Arthritis, Fasciitis, Sinusitis, Bronchiectasis,... |
ORPHA:228119 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscle fiber splitting, Muscular dystrophy, Short stature, Enamel hypoplasia, Carious teeth, Incr... |
OMIM:226670 |
| Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Skin rash, Keratoconjunctivitis sicca, Arthritis, Gastritis, Myositis, Pericarditis |
ORPHA:809 |
| Mcdonough Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia |
ORPHA:2471 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Minicore myopathy, Myopathy, Weakness of facial musculature, Increased endomysial connective tiss... |
OMIM:611705 |
| Pediatric Systemic Lupus Erythematosus |
|
Malar rash, Skin rash, Arthritis, Discoid lupus rash, Nephritis, Myositis |
ORPHA:93552 |
| Whipple Disease |
|
Myocarditis, Uveitis, Arthritis, Infectious encephalitis, Myositis, Pericarditis |
ORPHA:3452 |
| 20P12.3 Microdeletion Syndrome |
|
Malar flattening, Short stature, Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the max... |
ORPHA:261295 |
| Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Inflammatory abnormality of the skin, Tubulointerstitial nephritis, Coliti... |
ORPHA:37042 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Esophagitis, Gastritis, Pa... |
OMIM:619079 |
| X-Linked Intellectual Disability, Porteous Type |
|
Bulbous nose, Mandibular prognathia, Short stature, Hypoplasia of the maxilla |
ORPHA:93945 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1933 |
| Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Cachexia, Myopathy |
ORPHA:1876 |
| Sweet Syndrome |
|
Acne inversa, Predominantly dermal neutrophilic infiltrate, Inflammation of the large intestine, ... |
ORPHA:3243 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Decreased testicular size, Cryptorchidism, High palate, Prominent nasal bridge, Short stature, Hy... |
ORPHA:85279 |
| Myasthenia Gravis |
|
Hepatitis, Myositis, Rheumatoid arthritis, Hashimoto thyroiditis |
ORPHA:589 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short stature, Convex nasal ridge, Hypoplasia of the maxilla |
OMIM:156510 |
| Christianson Syndrome |
|
Decreased muscle mass, Arthrogryposis multiplex congenita, Cachexia |
ORPHA:85278 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Arthrogryposis multiplex congenita, Facial diplegia, Hypomimic face, Cachexia, Neonatal death, Fl... |
OMIM:618186 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Carcinoma Of Esophagus |
|
Weight loss, Obesity |
ORPHA:70482 |
| Frontonasal Dysplasia 1 |
|
Camptodactyly, Broad nasal tip, Hypoplastic frontal sinuses, Bifid nasal tip, Bifid nose, Short c... |
OMIM:136760 |
| Spastic Paraplegia 16, X-Linked |
|
Lower limb muscle weakness, Lower limb amyotrophy, Facial hypotonia, Hypoplasia of the maxilla |
OMIM:300266 |
| Typical Nemaline Myopathy |
|
Fatigable weakness of respiratory muscles, Fatiguable weakness of proximal limb muscles, Axial mu... |
ORPHA:171436 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology, Growth delay |
OMIM:251850 |
| Microsporidiosis |
|
Peritonitis, Myocarditis, Keratoconjunctivitis, Keratitis, Cholangitis, Endocarditis, Pancreatiti... |
ORPHA:2552 |
| Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:2047 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Absent muscle fiber merosin, Muscular dystrophy, Muscle fiber atrophy, Facial palsy... |
ORPHA:258 |
| Visceral Myopathy 2 |
|
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Hiatus hernia, Volvulus, Intestina... |
OMIM:619350 |
| Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Abnormality of orbicularis oris muscle, Abnormality of masseter mus... |
ORPHA:98897 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Congenital Myopathy 15 |
|
Camptodactyly, Type 1 muscle fiber predominance, Weakness of facial musculature, Fatty replacemen... |
OMIM:620161 |
| Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Nemaline bodies, Achilles tendon contracture, Shoulder flexion contractu... |
OMIM:617114 |
| Lowry-Maclean Syndrome |
|
Midgut malrotation, Retrognathia, Pyloric stenosis, Short nose, Talon cusp, Intrauterine growth r... |
ORPHA:2409 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Peritonitis, Orchitis, Skin rash, Erysipelas, Uveitis, Arthritis, Conjunctivitis, Fasciitis, Myos... |
ORPHA:32960 |
| Renpenning Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:3242 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Cachexia, Foot dorsiflexor weakness, Abnormality of the extraocular muscle... |
ORPHA:298 |
| Thymoma |
|
Myositis, Ulcerative colitis, Glomerulonephritis, Rheumatoid arthritis |
ORPHA:99867 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Increased variability in muscle... |
OMIM:616816 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Facial hypotonia, Cachexia, Hip contracture |
OMIM:616801 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis |
ORPHA:764 |
| Myopathic Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Micrognathia, Pr... |
ORPHA:536516 |
| Myasthenic Syndrome, Congenital, 19 |
|
Bulbar palsy, Poor head control, Retrognathia, Proximal muscle weakness, Distal muscle weakness, ... |
OMIM:616720 |
| Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormal small intestine morphology, Growth delay |
ORPHA:100025 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Cachexia, Distal arthrogryposis, Myopathy |
ORPHA:42 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Generalized muscle weakness, Neonatal death, Increased variability in muscle fiber diameter |
OMIM:614096 |
| Cleft Lip/Palate |
|
Abnormality of dental eruption, Unilateral cleft palate, Peg-shaped maxillary lateral incisors, C... |
ORPHA:199306 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Skeletal muscle atrophy, Proximal muscle weakness, Centrally nucleated skelet... |
OMIM:616812 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Necklace skeletal muscle fibers, Fatigable weakness of bulbar mus... |
ORPHA:596 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Broad nasal tip, Retrognathia, Malar flattening, Mandibular prognathia, Wide nasal bridge, Microg... |
OMIM:620157 |
| Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Growth delay, Depressed nasal bridge, Anal stenosis, Hypoplasia of the maxilla |
ORPHA:782 |
| Secondary Short Bowel Syndrome |
|
Malabsorption, Steatorrhea, Volvulus, Villous atrophy, Aganglionic megacolon, Abnormal small inte... |
ORPHA:95427 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Retrognathia, External ophthalmoplegia, Anteverted nares, Growth delay, Increased variability in ... |
OMIM:619026 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intrauterine growth retardation, Short stature, Intestina... |
ORPHA:1201 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Short nose, Skeletal muscle atrophy, Wide nasal bridge, Flexion contracture, Hyp... |
OMIM:218000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Short stature, Increased variability in muscle fiber d... |
OMIM:619065 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Retrognathia, Enamel hypoplasia, Increased variability in muscle fiber diameter |
OMIM:617915 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Prominent nasal bridge, High palate, Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:300676 |
| Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Short nose, Anteverted nares, Narrow nasal ridge, Prominence of the premaxilla |
OMIM:137550 |
| Stickler Syndrome Type 1 |
|
Short nose, Hypoplasia of the maxilla, Cleft palate |
ORPHA:90653 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Retrocollis, Distal amyotrophy, Muscle fiber atrophy, Skeletal muscle atrophy, Cachexia, Lower-li... |
ORPHA:300605 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, High palate, Cleft palate |
OMIM:246560 |
| Cap Myopathy |
|
Lower limb amyotrophy, Poor head control, Fatiguable weakness of proximal limb muscles, Lower lim... |
ORPHA:171881 |
| Amyotrophic Lateral Sclerosis 21 |
|
Bulbar palsy, Shoulder girdle muscle weakness, Distal lower limb muscle weakness, Hand muscle wea... |
OMIM:606070 |
| Hypomandibular Faciocranial Dysostosis |
|
Malar flattening, Aglossia, Choanal stenosis, Micrognathia, Hypoplasia of the maxilla |
OMIM:241310 |
| Mandibulofacial Dysostosis With Alopecia |
|
Trismus, Cleft palate, Glossoptosis, Wide nasal bridge, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:616367 |
| Juvenile Dermatomyositis |
|
Skin rash, Arthritis, Myositis, Pericarditis, Calcinosis |
ORPHA:93672 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Cachexia, Weight loss |
ORPHA:1979 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Knee flexion contracture, EMG: myopathic abnormalities, Cachexia, Hip contracture, Severe failure... |
ORPHA:371364 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Skeletal muscle atrophy, Muscle weak... |
OMIM:616867 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Mandibular prognathia, Short stature, Hypoplasia of the maxilla |
OMIM:601216 |
| Keipert Syndrome |
|
Prominent nasal bridge, Depressed nasal bridge, Short stature, Hypoplasia of the maxilla |
ORPHA:2662 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Proximal muscle weakness, Centrally nucleated skeletal mus... |
ORPHA:401768 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Short nose, Dysphagia, Thick nasal alae, Micrognathia, Meckel diverticulum |
ORPHA:163961 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Behçet Disease |
|
Optic neuritis, Increased inflammatory response, Endocarditis, Orchitis, Recurrent aphthous stoma... |
ORPHA:117 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Malar flattening, Short nose, Narrow naris, Hypoplasia of the maxilla |
OMIM:122880 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Myopathy, Lower limb muscle weakness, EMG: myopathic abnormalities, Proximal muscle weakness, Fat... |
ORPHA:397744 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Steatorrhea, Decreased intestinal transit time, Intestinal ... |
OMIM:615237 |
| Acrodysostosis |
|
Cryptorchidism, Short nose, Mandibular prognathia, Short stature, Anteverted nares, Delayed erupt... |
ORPHA:950 |
| Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Malar flattening, Short nose, Mandibular prognathia, Intr... |
ORPHA:439822 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Poor head control, Increased variability in muscle fiber diameter |
OMIM:613752 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, Short stature, EMG: myopathic abnormalities, Fatty replacemen... |
ORPHA:52430 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Type 1 muscle fiber predominance, Respiratory insufficie... |
OMIM:254090 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Malar flattening, Short nose, Short stature, Cleft palate, Micrognathia, Hypoplasia of the maxilla |
ORPHA:79113 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myopathy, Gowers sign, Pelvic girdle muscle weakness, Increased variability in muscle fiber diame... |
ORPHA:119 |
| Spondylospinal Thoracic Dysostosis |
|
Arthrogryposis multiplex congenita, Hypoplasia of the maxilla, Micrognathia |
OMIM:601809 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Congenital diaphragmatic hernia |
OMIM:166300 |
| Aarskog-Scott Syndrome |
|
Cryptorchidism, Short stature, Anteverted nares, Cleft palate, Delayed eruption of teeth, Wide na... |
ORPHA:915 |
| Trigonocephaly 1 |
|
Short nose, Meckel diverticulum, Wide nasal bridge, High, narrow palate |
OMIM:190440 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Weakness of facial musculature, Respiratory insufficiency due to muscle weakness, Muscle fiber at... |
OMIM:258450 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption |
OMIM:221400 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Cryptorchidism, Prominent nasal bridge, Malar flattening, Short statur... |
OMIM:300978 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| Lujan-Fryns Syndrome |
|
High palate, Prominent nasal bridge, Micrognathia, Macroorchidism, Hypoplasia of the maxilla |
ORPHA:776 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Anteriorly placed anus, Duodenal atresia, Malabsorption, Jejunal atresia, ... |
OMIM:615710 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Narrow nasal base, Decreased testicular size, Elevated circulating follicle stimulating hormone l... |
ORPHA:3044 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Steatorrhea, Fat malabsorption, Growth delay |
ORPHA:309108 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Flexion contracture, Facial palsy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:616470 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Increased size of the mandible, Intestina... |
OMIM:300048 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Majeed Syndrome |
|
Flexion contracture, Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Chronic sinusitis, Protein-losing enteropathy |
OMIM:613502 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia |
OMIM:312750 |
| Atelosteogenesis, Type Iii |
|
Malar flattening, Rhizomelia, Cleft palate, Micrognathia, Depressed nasal bridge, Hypoplasia of t... |
OMIM:108721 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Bulbous nose, Hypoplasia of the maxilla |
OMIM:618737 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Intestinal hypoplasia, Duodenal atresia, Hypoplasia of the gallbladder, Je... |
OMIM:601346 |
| Cohen Syndrome |
|
Delayed puberty, Prominent nasal bridge, Decreased response to growth hormone stimulation test, S... |
OMIM:216550 |
| Marshall Syndrome |
|
High palate, Hypoplastic frontal sinuses, Malar flattening, Short nose, Short stature, Anteverted... |
ORPHA:560 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Duodenal stenosis, Micrognathia |
ORPHA:2547 |
| Primary Sjögren Syndrome |
|
Glomerulonephritis, Optic neuritis, Chronic active hepatitis, Chronic hepatitis, Tubulointerstiti... |
ORPHA:289390 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Mandibular prognathia, Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla |
OMIM:601499 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Malar flattening, Anteverted nares, Wide nasal bridge, Depressed nasal ridge, Prominence of the p... |
ORPHA:2412 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ophthalmoplegia, Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Cryptorchidism, Prominent nasal bridge, Short stature, Cleft palate, Microretrognath... |
ORPHA:1307 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Steatorrhea, Choanal atresia, Villous atrophy, Abnormal large intest... |
ORPHA:92050 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Cryptorchidism, Testicular atrophy, Elevated circulating follicle stimulating ho... |
OMIM:305400 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short nose, Short stature, Wide nose, Cleft palate, Hypoplasia of the maxilla |
OMIM:614261 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Long nose, Hypoplasia of teeth, Underdeveloped nasal alae, Short stature, Hypoplasia of the prima... |
OMIM:257850 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Malar flattening, Choanal atresia, Hypoplasia of the maxilla, Convex nasal ridge |
ORPHA:93262 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Muscle fiber atrophy, Muscle weaknes... |
OMIM:616866 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Intrauterine growth retardation, Short stature, Hypoplasia of the maxilla |
OMIM:608154 |
| 8Q22.1 Microdeletion Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Wide nasal bridge, Depressed nasal ridge, Abnormal n... |
ORPHA:178303 |
| Pfeiffer Syndrome |
|
High palate, Short nose, Choanal atresia, Mandibular prognathia, Choanal stenosis, Depressed nasa... |
OMIM:101600 |
| Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Breast hypoplasia, Intrauterine growth retardation, Short stature, Birth length l... |
OMIM:613804 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased circulating prolactin concentration, Gowers sign, Weakness of facial musculature, Incre... |
ORPHA:502423 |
| Cleft Velum |
|
Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Cleft soft palate, Hypoplasia of the max... |
ORPHA:99772 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Neonatal death, Nemaline bodies, Increased variability in mus... |
OMIM:619334 |
| Mohr Syndrome |
|
Broad nasal tip, High palate, Malar flattening, Bifid nasal tip, Short stature, Cleft palate, Bif... |
OMIM:252100 |
| Pycnodysostosis |
|
High palate, Rhizomelia, Persistence of primary teeth, Intrauterine growth retardation, Decreased... |
ORPHA:763 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:167730 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Decreased testicular size, Cryptorchidism, Recurrent upper respirat... |
OMIM:300534 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Rhabdomyolysis, Testicular atrophy, Progressive muscle weakness, Neck flexor weakness, Progressiv... |
OMIM:157640 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge |
ORPHA:1540 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Congenital Myopathy 19 |
|
Cryptorchidism, Depressed nasal ridge, Respiratory insufficiency due to muscle weakness, Skeletal... |
OMIM:618578 |
| Dysostosis, Stanescu Type |
|
Macroglossia, Abnormal nasal morphology, Short stature, Narrow nasal bridge, Carious teeth, Conve... |
ORPHA:1798 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Hematochezia, Malabsorption, Steatorrhea, Protein-losi... |
ORPHA:2070 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
| Aicardi-Goutières Syndrome |
|
Arthritis, Chilblains, Multiple joint contractures, Myositis, Panniculitis |
ORPHA:51 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules |
OMIM:619445 |
| Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Obesity |
ORPHA:813 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:397973 |
| Vascular Hyalinosis |
|
Malabsorption, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
| Crouzon Syndrome |
|
Narrow palate, Choanal atresia, Hypoplasia of the maxilla, Convex nasal ridge |
ORPHA:207 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Anteverted nares, Protein-losing enteropathy, Hydrocele testis |
OMIM:618154 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Absent pubertal growth spurt, Short stature, Congenital diaphragmatic hernia |
ORPHA:438134 |
| Rapp-Hodgkin Syndrome |
|
Bifid uvula, Supernumerary nipple, Underdeveloped nasal alae, Taurodontia, Short stature, Decreas... |
OMIM:129400 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Rhabdomyolysis, Myopathy, Skeletal muscle atrophy, Ophthalmoparesis, Distal muscle weakness, Musc... |
OMIM:255125 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Failure to thrive |
ORPHA:217346 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Broad nasal tip, Gastroesophageal reflux, Short nose, Short columella, Thick nasal alae, Depresse... |
ORPHA:79345 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Depressed nasal tip, Abnormality of cartilage of external ear, Severe postnatal growth retardatio... |
ORPHA:2399 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Broad nasal tip, Cryptorchidism, Mandibular prognathia, Intrauterine growth retardation, Short st... |
OMIM:101800 |
| Myopathy, Mitochondrial, And Ataxia |
|
Increased circulating prolactin concentration, Distal amyotrophy, Mandibular prognathia, Short st... |
OMIM:617675 |
| Xp22.13P22.2 Duplication Syndrome |
|
Broad nasal tip, Polycystic ovaries, Mandibular prognathia, Short stature, Flared nostrils, Conge... |
ORPHA:284180 |
| Cowden Syndrome 5 |
|
Goiter, High palate, Hydrocele testis, Hamartomatous polyposis, Ovarian cyst, Micrognathia, Furro... |
OMIM:615108 |
| Native American Myopathy |
|
Camptodactyly, Cryptorchidism, Muscle fiber atrophy, Skeletal muscle atrophy, Short stature, Musc... |
ORPHA:168572 |
| Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
| Distal Xq28 Microduplication Syndrome |
|
Broad nasal tip, Short stature, Recurrent upper respiratory tract infections, Epistaxis, Generali... |
ORPHA:293939 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Thyroiditis, Abnormality of the extraoc... |
ORPHA:79078 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Skeletal muscle atrophy, Short stature, Wide nose, Advanced eruption o... |
ORPHA:192 |
| Andersen-Tawil Syndrome |
|
Episodic flaccid weakness, Persistence of primary teeth, Short stature, Micrognathia, Muscle weak... |
ORPHA:37553 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Fiber type grouping, Myopathy, Weakness of facial musculature, Progressive external ophthalmopleg... |
OMIM:607459 |
| Infantile Krabbe Disease |
|
Shoulder girdle muscle weakness, Cachexia, Failure to thrive |
ORPHA:206436 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Long nose, High palate, Prominent nasal bridge, Narrow nose, Narrow nasal bridge, Micrognathia, M... |
OMIM:309520 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Distal amyotrophy, Cachexia, Ragged-red muscle fibers, Weight loss |
OMIM:603041 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Cryptorchidism, Short stature, Micrognathia, Congenital diaphragmatic hernia |
ORPHA:1166 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
| Trichothiodystrophy 3, Photosensitive |
|
Pyloric stenosis, Intrauterine growth retardation, Short stature, Bilateral cryptorchidism, Cario... |
OMIM:616395 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Choanal atresia, Short stature, Cleft palate, Aplastic zygomatic arch, Micrognathia... |
OMIM:616462 |
| Elsahy-Waters Syndrome |
|
Bifid uvula, Supernumerary tooth, Bilateral cryptorchidism, Anal stenosis, Malar flattening, Bifi... |
OMIM:211380 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
High palate, Antegonial notching of mandible, Malar flattening, Persistence of primary teeth, Sho... |
OMIM:170390 |
| 13Q12.3 Microdeletion Syndrome |
|
Camptodactyly, Cryptorchidism, Low insertion of columella, Malar flattening, Underdeveloped nasal... |
ORPHA:412035 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Colitis, Intrauterine growth retardation, Wide nasal bridge, Depressed nasal bridge |
OMIM:614602 |
| Lethal Congenital Contracture Syndrome 9 |
|
Flexion contracture, Abnormality of the diaphragm, Myopathy, Elbow extension contracture, Muscle ... |
OMIM:616503 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Malar flattening, Absent extraocular muscles, Short stature, Hypoplasia of the maxilla |
OMIM:109120 |
| Cowden Syndrome 6 |
|
Goiter, High palate, Hydrocele testis, Hamartomatous polyposis, Ovarian cyst, Micrognathia, Furro... |
OMIM:615109 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Myopathy, Polycystic ovaries, Skeletal muscle hypertrophy, Advanced eruption of teeth, Abnormalit... |
ORPHA:2348 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Ileal atresia, Hematochezia, Duodenal atresia, Rectal atresia, Jejunal ... |
OMIM:243150 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Meier-Gorlin Syndrome 5 |
|
Cryptorchidism, Gastroesophageal reflux, Submucous cleft hard palate, Intrauterine growth retarda... |
OMIM:613805 |
| Apert Syndrome |
|
Esophageal atresia, Bifid uvula, Choanal atresia, Mandibular prognathia, Cleft palate, Narrow pal... |
ORPHA:87 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Retrognathia, Conical incisor, Malar flattening, Protein-losing enteropathy, Narr... |
OMIM:235510 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Cachexia, Obesity |
ORPHA:85293 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Retrognathia, Anteverted nares, Micrognathia, Flexion contracture, Depressed nas... |
OMIM:608149 |
| Craniolenticulosutural Dysplasia |
|
High palate, Prominent nasal bridge, Hypoplasia of teeth, Short stature, Wide nose, Delayed erupt... |
ORPHA:50814 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1969 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Distal amyotrophy, Skeletal myopathy, Knee flexion contracture, Ske... |
ORPHA:3208 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
| Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Distal amyotrophy, Respiratory insufficiency due to muscle weakness, EMG: my... |
OMIM:164310 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Anteverted nares |
ORPHA:228396 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Limb hypertonia, Skeletal muscle atrophy, Anteverted nares, Bulbous nose, Flexion contracture, Hy... |
ORPHA:481152 |
| Van Maldergem Syndrome 2 |
|
High palate, Cryptorchidism, Anteriorly placed anus, Malar flattening, Hypoplastic nipples, Micro... |
OMIM:615546 |
| Van Maldergem Syndrome 1 |
|
Anal atresia, High palate, Anteriorly placed anus, Malar flattening, Growth delay, Dental maloccl... |
OMIM:601390 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Supernumerary nipple, Bilateral choanal atresia, Cleft palate, Wide nasal bridge, Hypoplasia of t... |
OMIM:106260 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Nager Syndrome |
|
Abnormal nasal morphology, Cleft palate, Micrognathia, Hypoplasia of the zygomatic bone, Hypoplas... |
ORPHA:245 |
| Cerebrofacioarticular Syndrome |
|
Bilateral choanal atresia/stenosis, Anteriorly placed anus, Short stature, Wide nasal bridge, Mic... |
ORPHA:314679 |
| Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption |
OMIM:607748 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Cryptorchidism, Intrauterine growth retardation, Neonatal death |
OMIM:608104 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short nose, Talon cusp, Short stature, Growth delay, Micrognathia, Hypoplasia of the maxilla |
ORPHA:363417 |
| Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased muscle glycogen content, Muscle weakness, Increased variability in musc... |
OMIM:232800 |
| Oculoskeletodental Syndrome |
|
Macroglossia, Cryptorchidism, Protein-losing enteropathy, Short stature, Broad columella, Wide na... |
OMIM:618440 |
| Fetal Alcohol Syndrome |
|
Short nose, Intrauterine growth retardation, Short stature, Anteverted nares, Congenital diaphrag... |
ORPHA:1915 |
| Malan Syndrome |
|
Retrognathia, Short nose, Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption... |
OMIM:614753 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, High palate, Cryptorchidism, Retrognathia, Malar flattening, Abnormal d... |
ORPHA:861 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Weight loss |
OMIM:188580 |
| Cardioacrofacial Dysplasia 1 |
|
