| Myositis |
|
Myositis |
OMIM:160750 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia, Distal amyotrophy, Nonprogressive muscular atrophy |
ORPHA:1216 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Muscular dystrophy, Muscle eosinophilia, Myositis, Facial palsy, Scapular winging, Proximal amyot... |
OMIM:253600 |
| Aids Wasting Syndrome |
|
Cachexia, Skeletal muscle atrophy, Weight loss |
ORPHA:90081 |
| Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Myositis, Calf muscle hypertrophy, Skeletal muscle atrophy, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Myositis, Rimmed vacuoles, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Skel... |
OMIM:615422 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Distal amyotrophy,... |
OMIM:618655 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Muscle fiber splitting, Internally nucleated skeletal muscle fibers, Necrotizing myopathy, Calf m... |
ORPHA:178464 |
| Gne Myopathy |
|
Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Abnor... |
ORPHA:602 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Hip flexor weakness, Reduced maximal inspiratory pressure, Facial hypotonia, Autophagic vacuoles,... |
ORPHA:266 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Rimmed vacuoles, Facial palsy, Scapular winging, EMG... |
OMIM:617158 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Distal amyotrophy, Distal muscle weakness, Short stature, Increased variability in muscle fiber d... |
OMIM:619042 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Calf muscle hypertrophy, Muscle fiber necrosis, Increased variability in muscle fiber diameter, P... |
OMIM:618848 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Accumulation of muscle fiber desmin, Neck muscle weakness, Muscle fiber inclusion bodies, Facial ... |
ORPHA:399058 |
| Focal Myositis |
|
Myositis |
ORPHA:48918 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 9 |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... |
OMIM:620402 |
| Oculopharyngodistal Myopathy 2 |
|
External ophthalmoplegia, Bulbar palsy, Rimmed vacuoles, EMG: myopathic abnormalities, Distal mus... |
OMIM:618940 |
| Immune-Mediated Necrotizing Myopathy |
|
Myocarditis, Myositis, Skin rash, Scapular winging, EMG: myopathic abnormalities, Muscle fiber ne... |
ORPHA:206569 |
| Papa Syndrome |
|
Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increased inflammatory response |
ORPHA:69126 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Muscular dystrophy, Calf muscle pseudohypertrophy, Gowers sign, Facial palsy, EMG: myopathic abno... |
OMIM:254110 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Gowers sign, Wrist flexion contracture, Nemaline bodies, Limb-girdle muscle weakness, Increased v... |
OMIM:620386 |
| Myopathy, Sarcoplasmic Body |
|
Sarcoplasmic bodies, Weakness of the intrinsic hand muscles, Axial muscle weakness, Increased var... |
OMIM:620286 |
| Tibial Muscular Dystrophy |
|
Distal upper limb muscle weakness, Ankle weakness, Rimmed vacuoles, EMG: myopathic abnormalities,... |
ORPHA:609 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Weak extraocular muscles, Abnormal Z disk morphology... |
OMIM:618654 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:619324 |
| Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus... |
OMIM:301075 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal upper limb amyotrophy, Muscular dystrophy, Proximal muscle weakness in upper limbs, Dist... |
OMIM:601954 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Rimmed vacuoles, Scapular winging, Abdominal wall muscle... |
OMIM:619733 |
| Inclusion Body Myositis |
|
Inflammatory myopathy, Ragged-red muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Proxim... |
ORPHA:611 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Rimmed vacuoles, Abdominal wall muscle weakness, Increased variabi... |
OMIM:615424 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Ankle flexion contracture, Gowers sign, Calf muscle hypertrophy, Scapular winging, EMG: myopathic... |
OMIM:608099 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Poor head control, Increased variability in muscle fiber diameter, Respiratory insufficiency due ... |
OMIM:300717 |
| Spinal Muscular Atrophy, Type Iv |
|
Calf muscle hypertrophy, Rimmed vacuoles, Spinal muscular atrophy, Muscle fiber necrosis, Increas... |
OMIM:271150 |
| Myopathy, Myofibrillar, 3 |
|
Muscle fiber splitting, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myofibril... |
OMIM:609200 |
| Eosinophilic Fasciitis |
|
Myositis, Arthritis, Muscular edema, Fasciitis |
ORPHA:3165 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Muscle fiber splitting, Ankle flexion contracture, Calf muscle hypertrophy, Rimmed vacuoles, Dist... |
OMIM:617760 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Neck muscle weakness, Muscle fiber inclusion bodies, Generalized muscle weakness, Scapular wingin... |
OMIM:605637 |
| Congenital Myopathy 14 |
|
Neck muscle weakness, Knee flexion contracture, Generalized muscle weakness, Elbow flexion contra... |
OMIM:618414 |
| Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Ankle flexion contracture, Generalized muscle weakness, Central core regions in muscle fibers, Ne... |
OMIM:117000 |
| Tubular Aggregate Myopathy |
|
Fatigable weakness, Muscle fiber tubular inclusions, EMG: myopathic abnormalities, Increased vari... |
ORPHA:2593 |
| Myofibrillar Myopathy 11 |
|
Type 1 muscle fiber predominance, Gowers sign, Calf muscle hypertrophy, EMG: myopathic abnormalit... |
OMIM:619178 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Muscle fiber splitting, Diaphragmatic weakness, Calf muscle hypertrophy, Rimmed vacuoles, Scapula... |
OMIM:603689 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Myopathy, Scapulohumeroperoneal |
|
Progressive muscle weakness, Scapular winging, Facial palsy, Nemaline bodies, Increased variabili... |
OMIM:616852 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Myositis, Panniculitis, Flexion contracture, Skeletal muscle atrophy |
OMIM:619183 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Muscle fiber splitting, Poor head control, Fatigable weakness, Facial palsy, Limb muscle weakness... |
OMIM:616313 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Gowers sign, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle weakness, Pr... |
OMIM:612937 |
| Adult-Onset Nemaline Myopathy |
|
Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn... |
ORPHA:171442 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Muscle fiber splitting, Scapular winging, Abdominal wall muscle weakness, Increased variability i... |
OMIM:618129 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Muscular dystrophy, EMG: myopathic abnormalities, Distal muscle weakness, Increased variability i... |
OMIM:608807 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, N... |
OMIM:619566 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Cachexia, Myopathy, Skeletal muscle atrophy |
ORPHA:157973 |
| Bethlem Myopathy 2 |
|
Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture, Muscle wea... |
OMIM:616471 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Frontalis muscle weakness, Facial palsy, Short stature, Type 1 fibers relatively smaller than typ... |
OMIM:300580 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Muscular dystrophy, Torticollis, Gowers sign, Increased variability in muscle fiber diameter, Ske... |
OMIM:613204 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Sca... |
OMIM:300696 |
| Distal Myopathy, Tateyama Type |
|
Neck muscle weakness, Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of th... |
ORPHA:488650 |
| Nemaline Myopathy 2 |
|
Sternocleidomastoid amyotrophy, Respiratory insufficiency due to muscle weakness, Muscle fiber sp... |
OMIM:256030 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Poor head control, Generalized muscle weakness, Nemaline bodies, Increased variability in muscle ... |
OMIM:620265 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Lower limb amyotrophy, Calf muscle hypertrophy, Wrist flexion contracture, Upper limb amyotrophy,... |
ORPHA:206549 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Cachexia, Slender build, Weight loss |
OMIM:613662 |
| Cardiomyopathy, Dilated, 1X |
|
Proximal muscle weakness, Increased variability in muscle fiber diameter, Calf muscle hypertrophy... |
OMIM:611615 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Generalized muscle weakness, Rimmed vacuoles, Skeletal muscle fibrosis, Myofibrillar myopathy, In... |
ORPHA:34516 |
| Pyoderma Gangrenosum |
|
Myositis, Inflammation of the large intestine, Pustule, Rheumatoid arthritis |
ORPHA:48104 |
| Myasthenic Syndrome, Congenital, 14 |
|
Knee flexion contracture, Fatigable weakness, Ragged-red muscle fibers, Gowers sign, Scapular win... |
OMIM:616228 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Skin rash, Erysipelas, Conjunctivitis, Maculopapular exanthema, Oligoarthritis |
OMIM:142680 |
| Myopathy, Distal, Tateyama Type |
|
Calf muscle hypertrophy, Hand muscle weakness, Increased variability in muscle fiber diameter, Ce... |
OMIM:614321 |
| Myopathy, Tubular Aggregate, 1 |
|
External ophthalmoplegia, Weakness of the intrinsic hand muscles, Increased variability in muscle... |
OMIM:160565 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Distal muscle weakness, Increased variability in muscle fiber d... |
OMIM:620235 |
| Zebra Body Myopathy |
|
Muscle fiber splitting, Neck muscle weakness, Torticollis, Gowers sign, Rimmed vacuoles, Autophag... |
ORPHA:97240 |
| Congenital Myopathy 20 |
|
Gowers sign, Scapular winging, Nemaline bodies, Congenital contracture, Increased variability in ... |
OMIM:620310 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Respiratory insufficiency due to... |
OMIM:300718 |
| Idiopathic Camptocormia |
|
Fatty replacement of skeletal muscle, Myelitis, Myositis, EMG: myopathic abnormalities, Proximal ... |
ORPHA:1320 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Increased variability i... |
OMIM:253601 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Distal muscle weakness, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, ... |
OMIM:620542 |
| Graft Versus Host Disease |
|
Gastrointestinal inflammation, Dupuytren contracture, Inflammatory abnormality of the eye, Myosit... |
ORPHA:39812 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Short stature |
ORPHA:2776 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
External ophthalmoplegia, Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle f... |
ORPHA:98905 |
| Congenital Myopathy 3 With Rigid Spine |
|
Muscular dystrophy, Poor head control, Type 1 and type 2 muscle fiber minicore regions, Generaliz... |
OMIM:602771 |
| Congenital Myopathy 10B, Mild Variant |
|
Increased endomysial connective tissue, Neck flexor weakness, Generalized limb muscle atrophy, Ty... |
OMIM:620249 |
| Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Short nose, Mandibular prognathia, Depressed nasal ridge, Hypoplasia... |
ORPHA:1248 |
| Congenital Myopathy 18 |
|
Axial muscle weakness, Increased variability in muscle fiber diameter, Centrally nucleated skelet... |
OMIM:620246 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Gowers sign... |
OMIM:618138 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Ullrich Congenital Muscular Dystrophy |
|
Diaphragmatic weakness, Torticollis, Generalized muscle weakness, Elbow flexion contracture, EMG:... |
ORPHA:75840 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Neck muscle weakness, Distal amyotrophy, Rimmed vacu... |
OMIM:619473 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Muscle fiber splitting, Lower limb amyotrophy, Ragged-red muscle fibers, Rimmed vacuoles, Upper l... |
OMIM:616924 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Muscular dystrophy, Neck muscle weakness, Axial muscle weakness, Increased variability in muscle ... |
OMIM:617066 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Weight loss |
OMIM:612075 |
| Childhood-Onset Nemaline Myopathy |
|
Generalized limb muscle atrophy, Neck muscle weakness, Fatigable weakness of bulbar muscles, Faci... |
ORPHA:171439 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Muscular dystrophy, Gowers sign, Calf muscle hypertrophy, Triceps weakness, Limb-girdle muscle we... |
ORPHA:86812 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Abnormality of jaw muscles, Myositis, Viral infection-in... |
ORPHA:99845 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Muscular dystrophy, Scapular winging, Increased variability in muscle fiber diameter, Centrally n... |
OMIM:612999 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Malar rash, Skin rash, Pustular rash, Pustule, Skeletal muscle atrophy |
OMIM:615934 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Muscular dystrophy, Neck muscle weakness, Increased variability in muscle fiber diameter, Proxima... |
OMIM:614302 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Muscular dystrophy, Ankle flexion contracture, Distal muscle weakness, Increased variability in m... |
OMIM:617072 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Anal atresia, Hypoplasia of the maxilla, Short stature, Decreased testicul... |
ORPHA:93950 |
| Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia, Retrognathia, Micrognathia, Neonatal death, Broad nasal tip, Cry... |
OMIM:615524 |
| Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Diaphragmatic weakness, Diaphragmatic paralysis, Facial palsy, EMG: myopathic ... |
OMIM:614399 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Distal upper limb muscle weakness, Progressive proximal muscle weakness, Muscle fiber necrosis, I... |
OMIM:620138 |
| Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Gowers sign, Calf muscle hypertrophy, Increased ... |
OMIM:613157 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Gowers sign, Muscle fi... |
OMIM:253700 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Delayed puberty, Poor head control, Neck muscle weakness, EMG: myopathic abnormalities, Limb musc... |
ORPHA:486815 |
| Antisynthetase Syndrome |
|
Myocarditis, Myositis, Arthritis, Skin rash, Keratoconjunctivitis sicca |
ORPHA:81 |
| Oculopharyngodistal Myopathy 4 |
|
External ophthalmoplegia, Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Dis... |
OMIM:619790 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Panniculitis, Myositis, Arthritis, Skin rash, Sinusitis, Flexion contracture, Conjunctivitis |
OMIM:617591 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Facial palsy, Skeletal muscle atrophy, Limb muscle weakness |
ORPHA:97229 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs |
ORPHA:1878 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Myositis, Arthritis, Skin rash, Hepatitis, Sinusitis, Septic arthritis, Peritonitis,... |
ORPHA:36234 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Muscular dystrophy, External ophthalmoplegia, Type 1 and type 2 muscle fiber minicore regions, Ge... |
OMIM:255320 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Hypoplasia of the maxil... |
ORPHA:1529 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Gowers sign, Scapular winging, Upper limb... |
ORPHA:353 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized muscle weakness |
ORPHA:238329 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge, Muscle weakness |
OMIM:618302 |
| Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Generalized muscle weakness, Bulbar palsy, Facial palsy, Type 1 fibers relatively smaller than ty... |
OMIM:255310 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Gowers sign, Cryptorchidism, Increased variability in muscle fiber diameter, Centrally nucleated ... |
OMIM:618484 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Anteverted nares, Increased variability in muscle fiber diameter, Micrognathia, Increased intramy... |
OMIM:617228 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Myositis, Arthritis, Skin rash, Sinusitis, Endocarditis, Increased inflammatory resp... |
ORPHA:183 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in upper limbs, Limb muscle weakness, Increased variability in muscle fi... |
OMIM:613954 |
| X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Mandibular prognathia, Bulbous nose, Short stature |
ORPHA:93945 |
| Mcdonough Syndrome |
|
Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:2471 |
| Fusariosis |
|
Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Bronchiectasis, Sinusitis, Keratitis,... |
ORPHA:228119 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... |
OMIM:619079 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Arthritis, Skin rash, Discoid lupus rash, Malar rash, Nephritis |
ORPHA:93552 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscle fiber splitting, Muscular dystrophy, Short stature, Increased variability in muscle fiber ... |
OMIM:226670 |
| Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Gastritis, Myositis, Arthritis, Skin rash, Pericarditis, Keratoconjunctivitis sicca |
ORPHA:809 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Myositis, Thyroiditis, Tubulointerstitial nephritis, Eczematoid dermatitis, Membranous... |
ORPHA:37042 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Generalized muscle weakness, Calf muscle hypertrophy, Increased variability in muscle fiber diame... |
OMIM:611705 |
| Whipple Disease |
|
Myocarditis, Myositis, Arthritis, Pericarditis, Infectious encephalitis, Uveitis |
ORPHA:3452 |
| 20P12.3 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Short stature, Malar flattening, Wide nasal bridge, Depressed nasal br... |
ORPHA:261295 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Skeletal muscle atrophy, Myopathy |
ORPHA:1876 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:226735 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
High palate, Hypoplasia of the maxilla, Decreased testicular size, Short stature, Prominent nasal... |
ORPHA:85279 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Skeletal muscle atrophy |
ORPHA:1933 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Convex nasal ridge, Short stature |
OMIM:156510 |
| Christianson Syndrome |
|
Cachexia, Decreased muscle mass, Arthrogryposis multiplex congenita |
ORPHA:85278 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Hypomimic face, Cachexia, Facial diplegia, Neonatal death, Limb joint contracture, Flexion contra... |
OMIM:618186 |
| Sweet Syndrome |
|
Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Inflammation of the large i... |
ORPHA:3243 |
| Myasthenia Gravis |
|
Myositis, Hashimoto thyroiditis, Hepatitis, Rheumatoid arthritis |
ORPHA:589 |
| Spastic Paraplegia 16, X-Linked |
|
Lower limb amyotrophy, Hypoplasia of the maxilla, Facial hypotonia, Lower limb muscle weakness |
OMIM:300266 |
| Congenital Myopathy 15 |
|
Camptodactyly, Increased variability in muscle fiber diameter, Muscle weakness, Weakness of facia... |
OMIM:620161 |
| Oculopharyngodistal Myopathy |
|
Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim... |
ORPHA:98897 |
| Frontonasal Dysplasia 1 |
|
Short columella, Pectoral muscle hypoplasia/aplasia, Bifid nasal tip, Camptodactyly, Hypoplastic ... |
OMIM:136760 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
| Microsporidiosis |
|
Myocarditis, Prostatitis, Pancreatitis, Cholangitis, Myositis, Thyroiditis, Keratoconjunctivitis,... |
ORPHA:2552 |
| Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption |
OMIM:613291 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
| Typical Nemaline Myopathy |
|
Fatigable weakness of respiratory muscles, Facial diplegia, Facial palsy, Nemaline bodies, Arthro... |
ORPHA:171436 |
| Flynn-Aird Syndrome |
|
Cachexia, Skeletal muscle atrophy |
ORPHA:2047 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Ragged-red muscle fibers, Cachexia, Abnormality of the extraocular muscles, Decreased muscle mass... |
ORPHA:298 |
| Congenital Myopathy 22A, Classic |
|
External ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Gowers sign, Sca... |
OMIM:620351 |
| Lowry-Maclean Syndrome |
|
Short nose, High, narrow palate, Retrognathia, Midgut malrotation, Talon cusp, Choanal atresia, B... |
ORPHA:2409 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cachexia, Hip contracture, Failure to thrive in infancy, Facial hypotonia |
OMIM:616801 |
| Renpenning Syndrome |
|
Cachexia, Skeletal muscle atrophy |
ORPHA:3242 |
| Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Type 2 muscle fiber predominance, Elbow flexion contracture, Z-band... |
OMIM:617114 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia, Myopathy, Skeletal muscle atrophy |
ORPHA:42 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Muscular dystrophy, Myositis, Facial palsy, Muscle fiber atrophy, Flexion contracture, Absent mus... |
ORPHA:258 |
| Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis |
ORPHA:99867 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Pyomyositis |
|
Myositis, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Arthritis, Skin rash, Pericarditis, Erysipelas, Orchitis, Peritonitis, Conjunctivitis, ... |
ORPHA:32960 |
| Myopathic Ehlers-Danlos Syndrome |
|
Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus... |
ORPHA:536516 |
| Myasthenic Syndrome, Congenital, 19 |
|
Poor head control, Retrognathia, Bulbar palsy, Facial palsy, Distal muscle weakness, Axial muscle... |
OMIM:616720 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Increased variability in muscle fiber diameter, Respiratory insufficiency due to muscle weakness,... |
OMIM:616816 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Neonatal death, Generalized muscle weakness |
OMIM:614096 |
| Cleft Lip/Palate |
|
Oral-pharyngeal dysphagia, Peg-shaped maxillary lateral incisors, Bilateral cleft palate, Unilate... |
ORPHA:199306 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... |
OMIM:616812 |
| Amyotrophic Lateral Sclerosis |
|
Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Cachexia, Upper limb mu... |
ORPHA:803 |
| Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Choanal stenosis, Malar flattening, Aglossia |
OMIM:241310 |
| Diaphragmatic Hernia 5, X-Linked |
|
Congenital diaphragmatic hernia, Neonatal death |
OMIM:306950 |
| Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Increased variability in muscle fiber diameter, Centrally ... |
ORPHA:401768 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Progressive distal ... |
ORPHA:397744 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypoplasia of the maxilla, Growth delay, Wide nasal bridge, Depressed nasal bridge |
ORPHA:782 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Myopathy |
OMIM:618992 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retrognathia, Low hanging columella, Mandibular prognathia, Hypoplasia of the maxilla, Micrognath... |
OMIM:620157 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Intestinal malrotation, Short stature, Intrauterine growth retardation, Je... |
ORPHA:1201 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Mandibular prognathia, Prominent nasal bridge, High palate |
OMIM:300676 |
| X-Linked Centronuclear Myopathy |
|
Fatigable weakness of bulbar muscles, Necklace skeletal muscle fibers, Type 1 fibers relatively s... |
ORPHA:596 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, Facial diplegia, Limb muscle weakness, Hypoplasia of the maxilla, Flexion contracture... |
OMIM:218000 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
External ophthalmoplegia, Retrognathia, Anteverted nares, Growth delay, Increased variability in ... |
OMIM:619026 |
| Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip, Prominence of the premaxilla |
OMIM:137550 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Split-Hand/Foot Malformation 3 |
|
Hypoplasia of the maxilla, Cleft palate, High palate, Microretrognathia |
OMIM:246560 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Retrocollis, Lower-limb joint contracture, Cachexia, Distal amyotrophy, Upper-limb joint contract... |
ORPHA:300605 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Increased variability in muscle fiber diameter, Increased intramyocellular lipid d... |
OMIM:619065 |
| Cap Myopathy |
|
Poor head control, Lower limb amyotrophy, Gowers sign, Facial palsy, Increased variability in mus... |
ORPHA:171881 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia, Elbow flexion contracture, EMG: myopathic abnormalities, Hip ... |
ORPHA:371364 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Increased variability in muscle fiber diameter, Retrognathia |
OMIM:617915 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Flexion contracture, Weight loss |
ORPHA:1979 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Short nose, Cleft palate |
ORPHA:90653 |
| Amyotrophic Lateral Sclerosis 21 |
|
Distal lower limb muscle weakness, Bulbar palsy, Rimmed vacuoles, Hand muscle weakness, Distal mu... |
OMIM:606070 |
| Keipert Syndrome |
|
Hypoplasia of the maxilla, Prominent nasal bridge, Depressed nasal bridge, Short stature |
ORPHA:2662 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Flexion contracture, Ske... |
OMIM:616867 |
| Mandibulofacial Dysostosis With Alopecia |
|
Glossoptosis, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Trismus, Wide nasal bridge, ... |
OMIM:616367 |
| Alpha-Heavy Chain Disease |
|
Growth delay, Abnormal small intestine morphology |
ORPHA:100025 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Mandibular prognathia, Short stature, Hypoplasia of the maxilla |
OMIM:601216 |
| Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Arthritis, Skin rash, Pericarditis |
ORPHA:93672 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Myositis, Eczematoid dermatitis, Hepatitis, Minimal change glomerulonephritis |
OMIM:620565 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Secondary Short Bowel Syndrome |
|
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Growth delay, Enterocolitis, Vo... |
ORPHA:95427 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
| Congenital Short Bowel Syndrome |
|
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ... |
OMIM:615237 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Crypt hyperplasia, Villous atrophy |
OMIM:613217 |
| Behçet Disease |
|
Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis, Increased infla... |
ORPHA:117 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Hypoplasia of the maxilla, Malar flattening, Narrow naris, Depressed nasal bridge |
OMIM:122880 |
| Pde4D Haploinsufficiency Syndrome |
|
Postnatal growth retardation, Short nose, Abnormal dental enamel morphology, Mandibular prognathi... |
ORPHA:439822 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita |
OMIM:601809 |
| Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Decreased testicular size, Short stature, Micrognathia, Growth d... |
OMIM:300978 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Poor head control |
OMIM:613752 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Muscular dystrophy, Reduced muscle collagen VI, Torticollis, Facial palsy, Muscle fiber necrosis,... |
OMIM:254090 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short nose, Hypoplasia of the maxilla, Short stature, Micrognathia, Cleft palate, Malar flattening |
ORPHA:79113 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla |
OMIM:166300 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Rimmed vacuoles, EMG: myopathic abnormalities, Distal muscle weakness, Short stature, Increased v... |
ORPHA:52430 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Increased variability in muscle fiber diameter, Macroglossia, Progressive muscle weakness, Skelet... |
OMIM:151800 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Gowers sign, Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic gird... |
ORPHA:119 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Hypoplasia of the maxilla, Short stature, Cleft pala... |
ORPHA:915 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
| Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Retrognathia, Meckel diverticulum, Thick nasal alae, Micrognathia, Dysphagia |
ORPHA:163961 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Lujan-Fryns Syndrome |
|
High palate, Hypoplasia of the maxilla, Micrognathia, Prominent nasal bridge, Macroorchidism |
ORPHA:776 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Narrow nasal base, Cleft ala nasi, Wide nose, Breast aplasia, Mandibular prognathia, Hypoplasia o... |
ORPHA:3044 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Increased size of the mandible, Congenital shortened small intesti... |
OMIM:300048 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities, Muscle fiber necrosis, Dist... |
OMIM:258450 |
| Trigonocephaly 1 |
|
Meckel diverticulum, Short nose, High, narrow palate, Wide nasal bridge |
OMIM:190440 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Majeed Syndrome |
|
Cachexia, Failure to thrive, Flexion contracture, Weight loss |
ORPHA:77297 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Atelosteogenesis, Type Iii |
|
Rhizomelia, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening, Depressed na... |
OMIM:108721 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose |
OMIM:618737 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Chronic sinusitis |
OMIM:613502 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Facial palsy, Flexion contrac... |
OMIM:616470 |
| Primary Sjögren Syndrome |
|
Arteritis, Chronic active hepatitis, Myositis, Optic neuritis, Thyroiditis, Arthritis, Parotitis,... |
ORPHA:289390 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Abnormality of skeletal muscle fiber size, Generalized muscle weakness, Mandibular prognathia, Ne... |
OMIM:620278 |
| Rett Syndrome |
|
Cachexia, Skeletal muscle atrophy |
OMIM:312750 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology |
ORPHA:103907 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... |
OMIM:601346 |
| Cohen Syndrome |
|
Delayed puberty, High, narrow palate, Decreased response to growth hormone stimulation test, Hypo... |
OMIM:216550 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Anteverted nares, Depressed nasal ridge, Malar flattening, Prominence of the premaxilla, Wide nas... |
ORPHA:2412 |
| Marshall Syndrome |
|
Short nose, Anteverted nares, High palate, Hypoplastic frontal sinuses, Hypoplasia of the maxilla... |
ORPHA:560 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Hypoplasia of the maxilla, Short stature, Cleft palate, Prominent nasal bridge, Micr... |
ORPHA:1307 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Short nose, Micrognathia, Duodenal stenosis |
ORPHA:2547 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Increased variability in muscle fiber diameter, Muscle fiber atrophy, Ge... |
OMIM:616866 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Ophthalmoplegia, Myopathy |
OMIM:125250 |
| Cleft Velum |
|
Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Cleft soft palate, Hypoplasia of the max... |
ORPHA:99772 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Convex nasal ridge, Malar flattening, Choanal atresia |
ORPHA:93262 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Natal tooth |
ORPHA:99811 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal bridge |
OMIM:601499 |
| 8Q22.1 Microdeletion Syndrome |
|
Abnormal nostril morphology, Depressed nasal ridge, Hypoplasia of the maxilla, Submucous cleft ha... |
ORPHA:178303 |
| Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy |
ORPHA:702 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Short nose, Anteverted nares, Testicular atrophy, Bilateral cryptorchidism, Hypo... |
OMIM:305400 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short nose, Wide nose, Hypoplasia of the maxilla, Short stature, Cleft palate |
OMIM:614261 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Long nose, Hypoplasia of the primary teeth, Delayed eruption of teeth, Underdeveloped nasal alae,... |
OMIM:257850 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature |
OMIM:608154 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Facial hypotonia, Mandibular prognathia, Hypoplasia of the maxilla, Lower limb hy... |
OMIM:300534 |
| Meier-Gorlin Syndrome 4 |
|
Breast hypoplasia, Hypoplasia of the maxilla, Short stature, Micrognathia, Birth length less than... |
OMIM:613804 |
| Pfeiffer Syndrome |
|
Short nose, Mandibular prognathia, High palate, Choanal atresia, Hypoplasia of the maxilla, Choan... |
OMIM:101600 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation, Absent gall... |
OMIM:615710 |
| Jackson-Weiss Syndrome |
|
Hypoplasia of the maxilla, Convex nasal ridge, Mandibular prognathia |
ORPHA:1540 |
| Orofaciodigital Syndrome Ii |
|
Bifid nasal tip, High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Short statu... |
OMIM:252100 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased muscle glycogen content, Weakness of facial musculature, Gowers sign, EMG: myopathic ab... |
ORPHA:502423 |
| Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth,... |
ORPHA:1798 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Wide nasal bridge, Depressed nasal bridge |
OMIM:167730 |
| Congenital Myopathy 19 |
|
Facial hypotonia, Depressed nasal ridge, Congenital contracture, Micrognathia, Respiratory insuff... |
OMIM:618578 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Acrodysostosis |
|
Short nose, Delayed eruption of teeth, Anteverted nares, Mandibular prognathia, Depressed nasal r... |
ORPHA:950 |
| Pycnodysostosis |
|
Convex nasal ridge, Decreased response to growth hormone stimulation test, Rhizomelia, Disproport... |
ORPHA:763 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Hypoplasia of the maxilla, Enterocolitis, Micrognathia, Decreased pineal volume |
OMIM:301108 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Crouzon Syndrome |
|
Narrow palate, Convex nasal ridge, Choanal atresia, Hypoplasia of the maxilla |
ORPHA:207 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism |
DECIPHER:39 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Neonatal death, Nemaline bodies, Arthrogryposis m... |
OMIM:619334 |
| Silver-Russell Syndrome |
|
Cachexia, Obesity, Decreased muscle mass, Failure to thrive in infancy |
ORPHA:813 |
| Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Microvillus inclusions, Villous atrophy |
OMIM:619445 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Anteverted nares, Protein-losing enteropathy, Hydrocele testis |
OMIM:618154 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Progressive muscle weakness, Ragged-red muscle fibers, Facial palsy, EMG: myopathic abnormalities... |
OMIM:157640 |
| Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Flared nostrils, Mandibular prognathia, Short stature, Broad nas... |
ORPHA:284180 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Postnatal growth retardation, Short nose, Gastroesophageal reflux, Nasal congestion, Thick nasal ... |
ORPHA:79345 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:397973 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia, Absent pubertal growth spurt, Short stature |
ORPHA:438134 |
| Aicardi-Goutières Syndrome |
|
Panniculitis, Myositis, Arthritis, Chilblains, Multiple joint contractures |
ORPHA:51 |
| Rapp-Hodgkin Syndrome |
|
Decreased number of sweat glands, Underdeveloped nasal alae, Hypoplasia of the maxilla, Carious t... |
OMIM:129400 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Cachexia, Distal amyotrophy, Slender build, Weight loss |
OMIM:603041 |
| Dermatomyositis |
|
Myocarditis, Inflammatory myopathy, Myositis, Arthritis, Skin rash, EMG: myopathic abnormalities,... |
ORPHA:221 |
| Congenital Tufting Enteropathy |
|
Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma... |
ORPHA:92050 |
| Distal Xq28 Microduplication Syndrome |
|
Generalized muscle weakness, Hypoplasia of the maxilla, Short stature, Broad nasal tip, Epistaxis... |
ORPHA:293939 |
| 7Q31 Microdeletion Syndrome |
|
Postnatal growth retardation, Torticollis, Hypoplasia of the maxilla, Wide nasal ridge, Skeletal ... |
ORPHA:251061 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Failure to thrive |
ORPHA:217346 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Severe postnatal growth retardation, Depressed nasal tip, Hypoplasia of the maxilla, R... |
ORPHA:2399 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Distal muscle weakness, Increased variability in muscle fiber diameter, Rhabdomyolysis, Skeletal ... |
OMIM:255125 |
| Myopathy, Mitochondrial, And Ataxia |
|
Distal amyotrophy, Mandibular prognathia, Short stature, Increased variability in muscle fiber di... |
OMIM:617675 |
| Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
| Native American Myopathy |
|
Abnormality of skeletal muscle fiber size, Camptodactyly, Congenital contracture, Cryptorchidism,... |
ORPHA:168572 |
| Coffin-Lowry Syndrome |
|
Advanced eruption of teeth, Craniofacial hyperostosis, Delayed eruption of teeth, Wide nose, Ante... |
ORPHA:192 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Long nose, Narrow nasal bridge, High palate, Hypoplasia of the maxilla, Micrognathia, Prominent n... |
OMIM:309520 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
| Infantile Krabbe Disease |
|
Cachexia, Failure to thrive, Shoulder girdle muscle weakness |
ORPHA:206436 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Delayed eruptio... |
OMIM:101800 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Short stature |
ORPHA:1166 |
| Cowden Syndrome 5 |
|
High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, Micrognathia, C... |
OMIM:615108 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Keratoconjunctivitis sicca, Myositis, Thyroiditis, Abnormality of the extraocular muscles, Tubulo... |
ORPHA:79078 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Episodic flaccid weakness, Persistence of primary teeth, Hypoplasia ... |
ORPHA:37553 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Carious teeth, Short stature, Na... |
OMIM:616395 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
External ophthalmoplegia, Generalized muscle weakness, Ragged-red muscle fibers, Scapular winging... |
OMIM:607459 |
| 13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Low insertion of columella, Camptodactyly, Short stature, Malar ... |
ORPHA:412035 |
| Elsahy-Waters Syndrome |
|
Bifid nasal tip, Bifid uvula, Abnormality of the anus, Impacted tooth, Agenesis of incisor, Antev... |
OMIM:211380 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Absent extraocular muscles, Malar flattening, Short stature |
OMIM:109120 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Intestinal obstruction, Hypoplasia of the thymus, Intestinal malrotation, Enteroco... |
OMIM:243150 |
| Lethal Congenital Contracture Syndrome 9 |
|
Abnormality of the diaphragm, Anteverted nares, Wrist flexion contracture, Congenital contracture... |
OMIM:616503 |
| Oculopharyngodistal Myopathy 1 |
|
External ophthalmoplegia, Distal amyotrophy, Rimmed vacuoles, Facial palsy, Autophagic vacuoles, ... |
OMIM:164310 |
| Trichohepatoenteric Syndrome 2 |
|
Colitis, Intrauterine growth retardation, Wide nasal bridge, Depressed nasal bridge, Villous atrophy |
OMIM:614602 |
| Chylomicron Retention Disease |
|
Growth delay, Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes |
OMIM:246700 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Antegonial notching of mandible, High palate, Persistence of primary teeth... |
OMIM:170390 |
| Apert Syndrome |
|
Narrow palate, Ovarian neoplasm, Esophageal atresia, Delayed eruption of teeth, Ectopic anus, Man... |
ORPHA:87 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Eosinophilic Gastroenteritis |
|
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Hematochezia,... |
ORPHA:2070 |
| Meier-Gorlin Syndrome 5 |
|
Gastroesophageal reflux, Hypoplasia of the maxilla, Short stature, Micrognathia, Birth length les... |
OMIM:613805 |
| Cowden Syndrome 6 |
|
High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, Micrognathia, C... |
OMIM:615109 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Anteverted nares, Diastasis recti, Hypoplasia of the maxilla, Micrognathia, Flexion... |
OMIM:608149 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, Lower limb hypertonia, Skeletal m... |
ORPHA:3208 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Retrognathia, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiect... |
OMIM:235510 |
| Annular Pancreas |
|
High intestinal obstruction, Annular pancreas, Duodenal stenosis |
ORPHA:675 |
| Pancreas, Annular |
|
High intestinal obstruction, Annular pancreas, Duodenal stenosis |
OMIM:167750 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Cachexia, Obesity |
ORPHA:85293 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Limb hypertonia, Anteverted nares, Hypoplasia of the maxilla, Flexion contracture, Skeletal muscl... |
ORPHA:481152 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Hypoplasia of the maxilla, Anteverted nares, Microretrognathia |
ORPHA:228396 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertroph... |
ORPHA:2348 |
| Craniolenticulosutural Dysplasia |
|
Wide nose, Delayed eruption of teeth, High palate, Hypoplasia of the maxilla, Carious teeth, Hypo... |
ORPHA:50814 |
| Nager Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Abnormal nasal morphology, Hypoplasia of t... |
ORPHA:245 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Intrauterine growth retardation, Protein-losing enteropathy, Neonatal death, Cryptorchidism |
OMIM:608104 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Skeletal muscle atrophy |
ORPHA:1969 |
| Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Cryptorchidism, Short stature, Broad columella, Macroglossia, Wide na... |
OMIM:618440 |
| Malan Syndrome |
|
Short nose, Retrognathia, Advanced eruption of teeth, Mandibular prognathia, Hyperplasia of the p... |
OMIM:614753 |
| Van Maldergem Syndrome 2 |
|
Hypoplastic nipples, High palate, Hypoplasia of the maxilla, Growth delay, Micrognathia, Malar fl... |
OMIM:615546 |
| Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Overhanging nasal tip |
OMIM:619142 |
| Van Maldergem Syndrome 1 |
|
High palate, Anal atresia, Hypoplasia of the maxilla, Growth delay, Micrognathia, Malar flattenin... |
OMIM:601390 |
| Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
| Recon Progeroid Syndrome |
|
Narrow nasal ridge, Anteverted nares, Short stature, Growth delay, Prominent nasal bridge, Skelet... |
OMIM:620370 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short nose, Talon cusp, Hypoplasia of the maxilla, Short stature, Micrognathia, Growth delay |
ORPHA:363417 |
| Cerebrofacioarticular Syndrome |
|
Anal stenosis, Bilateral choanal atresia/stenosis, Hypoplasia of the maxilla, Short stature, Micr... |
ORPHA:314679 |
| Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia, Short nose, Anteverted nares, Short stature, Micrognathia, Intra... |
ORPHA:1915 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Anteverted nares, Abnormality of the diaphragm, Testicular atrophy |
OMIM:601163 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Weight loss |
OMIM:188580 |
| Treacher-Collins Syndrome |
|
Retrognathia, Rectovaginal fistula, Abnormal dental enamel morphology, High palate, Glossoptosis,... |
ORPHA:861 |
| Osteoglophonic Dysplasia |
|
Short nose, Rhizomelia, Delayed eruption of teeth, Anteverted nares, Eruption failure, Mandibular... |
OMIM:166250 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Short stature, Growth delay, Prominent nose, Prominence of the premaxilla, Wide n... |
OMIM:614886 |
| Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Cholelithiasis... |
OMIM:232800 |
| 1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short stature, Growth delay, Broad nasal tip, Depressed nasal br... |
ORPHA:250999 |
| Tarp Syndrome |
|
Meckel diverticulum, Anteverted nares, High palate, Glossoptosis, Micrognathia, Cleft palate, Neo... |
OMIM:311900 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia, Myopathy, Skeletal muscle atrophy |
ORPHA:109 |
| Carpenter Syndrome 1 |
|
Camptodactyly, Persistence of primary teeth, Hypoplasia of the maxilla, Short stature, Micrognath... |
OMIM:201000 |
| Crouzon Syndrome |
|
Deviated nasal septum, Mandibular prognathia, High palate, Hypoplasia of the maxilla, Dysgerminoma |
OMIM:123500 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
| Cowden Syndrome 1 |
|
High palate, Furrowed tongue, Hamartomatous polyposis, Hypoplasia of the maxilla, Micrognathia, C... |
OMIM:158350 |
| Tetrasomy 9P |
|
Myositis, Pericarditis, Arthritis, Glue ear |
ORPHA:3310 |
| 3Mc Syndrome 2 |
|
Postnatal growth retardation, Torticollis, Hypoplasia of the musculature, Diastasis recti, Depres... |
OMIM:265050 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Shoulder flexion contracture, Cachexia, Skeletal muscle hypertrophy, ... |
ORPHA:800 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
| Meier-Gorlin Syndrome 3 |
|
Breast hypoplasia, Gastroesophageal reflux, Hypoplasia of the maxilla, Short stature, Micrognathi... |
OMIM:613803 |
| Alg1-Cdg |
|
Protein-losing enteropathy, Abnormality of the gastrointestinal tract |
ORPHA:79327 |
| Barber-Say Syndrome |
|
Wide nose, Delayed eruption of teeth, Anteverted nares, Mandibular prognathia, Hypoplastic nipple... |
OMIM:209885 |
| Xfe Progeroid Syndrome |
|
Cachexia, Failure to thrive |
OMIM:610965 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Micrognathia, Cleft palate,... |
OMIM:235255 |
| Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
| Saethre-Chotzen Syndrome |
|
Narrow palate, Hypoplasia of the maxilla, Short stature, Cleft palate, Prominent nasal bridge, Co... |
ORPHA:794 |
| Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Bifid uvula, Bulbous nose, Wide nasal bridge, Depressed nasal bridge, Villous atrophy |
OMIM:601110 |
| Premature Aging Syndrome, Penttinen Type |
|
Short nose, Retrognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Aplasia of the na... |
OMIM:601812 |
| Alg6-Cdg |
|
Protein-losing enteropathy, Macroglossia |
ORPHA:79320 |
| Martsolf Syndrome 1 |
|
High palate, Hypoplasia of the maxilla, Short stature, Micrognathia, Broad nasal tip, Cryptorchid... |
OMIM:212720 |
| Cohen Syndrome |
|
Delayed puberty, High, narrow palate, Hypoplasia of the maxilla, Short stature, Micrognathia, Hyp... |
ORPHA:193 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Optic Atrophy 11 |
|
Short stature, Increased variability in muscle fiber diameter, Fiber type grouping, Facial diplegia |
OMIM:617302 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Knee flexion contracture, Elbow flexion contracture, Increased variabi... |
OMIM:619461 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... |
ORPHA:79076 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Anteverted nares, Short stature, Camptodactyly of finger, Malar ... |
ORPHA:1488 |
| Nablus Mask-Like Facial Syndrome |
|
Short nose, Retrognathia, Anteverted nares, Hypoplastic nipples, Camptodactyly, Hypoplasia of the... |
OMIM:608156 |
| Pancreatic Colipase Deficiency |
|
Steatorrhea, Fat malabsorption, Cholelithiasis |
ORPHA:309108 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postnatal growth retardation, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palat... |
ORPHA:1655 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Postnatal growth retardation, Short nose, Decreased response to growth hormone stimulation test, ... |
OMIM:213980 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Hypoplasia of the thymus, Increased variability in muscle fiber diameter, Micrognath... |
OMIM:617022 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Short stature |
ORPHA:2095 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Long nose, Short nose, Camptodactyly, Short stature, Carious tee... |
OMIM:617602 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption |
OMIM:607748 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Intrauterine growth retardation, Cryptorchidism, W... |
ORPHA:2075 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Frontorhiny |
|
Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Cleft palate, Hypop... |
ORPHA:391474 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss |
ORPHA:2221 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Muscular dystrophy, Generalized muscle weakness, Skeletal muscle hypertrophy, Increased variabili... |
OMIM:613327 |
| Trisomy 18 |
|
Congenital diaphragmatic hernia, Cachexia, Camptodactyly of finger |
ORPHA:3380 |
| Cat Eye Syndrome |
|
Rectal fistula, Anal stenosis, Meckel diverticulum, Anal atresia, Intestinal malrotation, Short s... |
OMIM:115470 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankle flexion contracture, Delayed eruption of teeth, Narrow nasal bridge, Wrist flexion contract... |
OMIM:259600 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Congenital diaphragmatic hernia, Progressive muscle weakness, Short stature, Joint contracture, A... |
OMIM:615919 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Calf muscle pseudohypertr... |
ORPHA:79083 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Villous atrophy |
OMIM:602579 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Thymus hyperplasia, Intrauterine growth retardation |
ORPHA:563609 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short nose, Short stature, Growth delay, Micrognathia, Prominent... |
ORPHA:251071 |
| Holoprosencephaly 9 |
|
Short nose, Agenesis of incisor, Decreased response to growth hormone stimulation test, Single na... |
OMIM:610829 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hamartomatous stomach polyps, Rectal polyp... |
ORPHA:2929 |
| Glycogen Storage Disease Xii |
|
Muscle fiber splitting, Delayed puberty, Cholelithiasis, Short stature, Increased variability in ... |
OMIM:611881 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Short stature, Fat malabsorption, Epistaxis, Cholelithiasis |
OMIM:211600 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Knee flexion contracture, Gowers sign, Mandibular prognathia, Anteverted nares, Camptodactyly, Bi... |
OMIM:617402 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Anteverted nares, Camptodactyly, Abdominal wall muscle weakness, Hypoplasia of the maxilla, Micro... |
OMIM:182212 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Hypoplasia of the maxilla, Prominent nasal bridge, Bulbous nose, Wide nasa... |
OMIM:609460 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Mungan Syndrome |
|
Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum |
OMIM:611376 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Proximal muscle weaknes... |
ORPHA:70595 |
| Hypohidrotic Ectodermal Dysplasia |
|
Breast aplasia, Anteverted nares, Sinusitis, Hypoplasia of the maxilla, Xerostomia |
ORPHA:238468 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Myopathy, Depressed nasal bridge |
OMIM:604377 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Duodenitis, Villous atrophy |
OMIM:614328 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... |
ORPHA:90291 |
| Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Choanal atresia, Short stature, G... |
OMIM:613309 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Short nose, Underdeveloped nasal alae, Hypoplastic nipples, Absent nipple, Aplasia/Hypoplastia of... |
OMIM:305100 |
| Nijmegen Breakage Syndrome |
|
Cachexia, Rhabdomyosarcoma, Skeletal muscle atrophy |
ORPHA:647 |
| Ear-Patella-Short Stature Syndrome |
|
Retrognathia, High, narrow palate, Breast aplasia, Mandibular aplasia, Hypoplasia of the maxilla,... |
ORPHA:2554 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Poor head control |
OMIM:615595 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Van Den Ende-Gupta Syndrome |
|
Camptodactyly of 2nd-5th fingers, Underdeveloped nasal alae, Elbow flexion contracture, Camptodac... |
OMIM:600920 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
| Angelman Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Macroglossia, Protruding tongue |
OMIM:105830 |
| Lysosomal Acid Lipase Deficiency |
|
Cachexia, Failure to thrive, Weight loss |
ORPHA:275761 |
| Tarp Syndrome |
|
Anteverted nares, Glossoptosis, Cryptorchidism, Micrognathia, Cleft palate, Abnormal duodenum mor... |
ORPHA:2886 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Bilateral choanal atresia, Hypoplasia of the maxilla, Cleft palate, Supernumerary nipple, Wide na... |
OMIM:106260 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Camptodactyly, Hypoplasia of the maxilla, Severe short stature, Malar flat... |
OMIM:231070 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Anorectal anomaly, Abnormal testis morphology, Tracheoesophageal fistul... |
ORPHA:1775 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Refractory Celiac Disease |
|
Protein-losing enteropathy, Jejunitis, Villous atrophy |
ORPHA:398063 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Ca... |
ORPHA:306542 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Generalized muscle weakness |
OMIM:619424 |
| Seckel Syndrome 9 |
|
Congenital diaphragmatic hernia, Short stature, Micrognathia, Intrauterine growth retardation, Co... |
OMIM:616777 |
| Colonic Atresia |
|
Peptic ulcer, Duodenal stenosis, Colonic atresia |
ORPHA:1198 |
| Anaplastic Thyroid Carcinoma |
|
Abnormal skeletal muscle morphology, Weight loss |
ORPHA:142 |
| Weill-Marchesani Syndrome 1 |
|
Narrow palate, Proportionate short stature, Short stature, Hypoplasia of the maxilla, Depressed n... |
OMIM:277600 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Shprintzen-Goldberg Syndrome |
|
Retrognathia, Anteverted nares, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia,... |
ORPHA:2462 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Greenberg Dysplasia |
|
Stillbirth, Retrognathia, Rhizomelia, Disproportionate short-limb short stature, Depressed nasal ... |
OMIM:215140 |
| Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance |
OMIM:619173 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Mandibular prognathia, Hypoplasia of the maxilla, Bifid uvula, Cleft p... |
ORPHA:2588 |
| Camurati-Engelmann Disease |
|
Cachexia, Slender build, Facial palsy, Skeletal muscle atrophy |
ORPHA:1328 |
| Cockayne Syndrome |
|
Limb hypertonia, Cachexia, Congenital contracture, Skeletal muscle atrophy, Contractures of the l... |
ORPHA:191 |
| Rubinstein-Taybi Syndrome 1 |
|
Retrognathia, Narrow palate, Hepatic hemangioma, Talon cusp, Short stature, Cleft palate, Short c... |
OMIM:180849 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Serkal Syndrome |
|
Malrotation of small bowel, Growth delay |
ORPHA:139466 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Short stature, Micrognathia, Neonatal death, Severe short statur... |
OMIM:601186 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Zttk Syndrome |
|
Short nose, Intestinal atresia, High palate, Intrauterine growth retardation, Hypoplasia of the m... |
OMIM:617140 |
| Visceral Myopathy 1 |
|
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc... |
OMIM:155310 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm |
ORPHA:2140 |
| Immunodeficiency 31C |
|
Delayed puberty, Protein-losing enteropathy, Gastrointestinal eosinophilia, Short stature, Growth... |
OMIM:614162 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Abnormal dentin morphology, Unilateral cleft palate, Absent nipple, Hypopl... |
ORPHA:1299 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
| Ablepharon Macrostomia Syndrome |
|
Breast hypoplasia, Anteverted nares, Underdeveloped nasal alae, Hypoplasia of the maxilla, Campto... |
ORPHA:920 |
| Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Weight loss |
OMIM:180300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Muscular dystrophy, Increased variability in muscle fiber diameter, Poor head control |
OMIM:616538 |
| Graves Disease |
|
Weight loss |
OMIM:275000 |
| Scedosporiosis |
|
Sinusitis, Abnormal jejunum morphology |
ORPHA:449280 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Short stature, Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
| Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss, Proximal muscle weakness in lower limbs |
ORPHA:905 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Fraser Syndrome 1 |
|
Cleft ala nasi, Wide nose, Underdeveloped nasal alae, Midline nasal groove, Cleft palate, Choanal... |
OMIM:219000 |
| Stickler Syndrome |
|
Short nose, Advanced eruption of teeth, Gastroesophageal reflux, Short hard palate, Abnormal dent... |
ORPHA:828 |
| Myhre Syndrome |
|
Skeletal muscle hypertrophy, Mandibular prognathia, Camptodactyly, Hypoplasia of the maxilla, Gen... |
OMIM:139210 |
| Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Absence of Stensen duct, Rectovaginal fist... |
OMIM:129900 |
| Netherton Syndrome |
|
Chronic rhinitis, Recurrent infection of the gastrointestinal tract, Intestinal atresia, Allergic... |
OMIM:256500 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Decreased response to growth hormone stimulation test, Anal stenosis, Absence of Stensen duct, Hy... |
OMIM:604292 |
| Bartsocas-Papas Syndrome 1 |
|
Short nose, Anal stenosis, Anal atresia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Mic... |
OMIM:263650 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Micrognathia, Hematochezia, Recurrent upper respiratory tract infecti... |
OMIM:618183 |
| Fryns Syndrome |
|
Stillbirth, Aganglionic megacolon, Esophageal atresia, Meckel diverticulum, Anteverted nares, Ana... |
OMIM:229850 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Intestinal malr... |
ORPHA:210122 |
| Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Postnatal growth retardation, Retrognathia, Wide nose, Anteverted nares, Mandibular prognathia, H... |
ORPHA:96334 |
| Marshall-Smith Syndrome |
|
Short mandibular rami, Short nose, Retrognathia, Anteverted nares, Glossoptosis, High palate, Cho... |
OMIM:602535 |
| Saethre-Chotzen Syndrome |
|
Narrow palate, Long nose, Hypoplasia of the maxilla, Cleft of chin, Short stature, Cleft palate, ... |
OMIM:101400 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Hypoplasia of the musculature, Mandibular prognathia, Hypoplasia of the maxilla, Camptodactyly of... |
ORPHA:1101 |
| Marfan Syndrome |
|
Cachexia, Slender build, Skeletal muscle atrophy |
ORPHA:558 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Short nose, High palate, Cleft palate, Microretrognathia, Malrotation of small bowel, Cryptorchid... |
ORPHA:2953 |
| Meier-Gorlin Syndrome 1 |
|
Breast hypoplasia, Gastroesophageal reflux, High palate, Hypoplasia of the maxilla, Micrognathia,... |
OMIM:224690 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplasia of the small intestine, Short nose, Pancreatic fibrosis, Hypoplastic colon |
OMIM:200995 |
| Oromandibular Dystonia |
|
Torticollis, Weight loss |
ORPHA:93958 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Steatorrhea, Fat malabsorption |
ORPHA:79303 |
| Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Abnormal small... |
ORPHA:90362 |
| Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
| Whim Syndrome |
|
Sinusitis, Abnormal small intestine morphology, Parotitis, Recurrent upper respiratory tract infe... |
ORPHA:51636 |
| Microphthalmia With Limb Anomalies |
|
High palate, Hypoplasia of the maxilla, Short stature, Micrognathia, Cleft palate, Hypoplasia of ... |
ORPHA:1106 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Intrauterine growth reta... |
ORPHA:2470 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Microvillus Inclusion Disease |
|
Abnormal small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Craniosynostosis And Dental Anomalies |
|
Narrow palate, Supernumerary tooth, Wide nose, Delayed eruption of teeth, Mandibular prognathia, ... |
OMIM:614188 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Decreased response to growth hormone stimulation test, Anal stenosis, Anal atresia, Hypoplasia of... |
OMIM:180500 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Retrognathia, Annular pancreas, Esophageal atresia, Meckel diverticulum, Congenital shortened sma... |
OMIM:265380 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Floating-Harbor Syndrome |
|
Long nose, Gastroesophageal reflux, Narrow nasal bridge, Low hanging columella, Persistence of pr... |
ORPHA:2044 |
| Weill-Marchesani Syndrome 2 |
|
Narrow palate, High palate, Proportionate short stature, Hypoplasia of the maxilla, Short stature... |
OMIM:608328 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Leishmaniasis |
|
Weight loss |
ORPHA:507 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy, Esophageal varix, Pancreatic cysts, Depr... |
ORPHA:731 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Congenital diaphragmatic hernia, Retrognathia, Elbow flexion contracture |
OMIM:618022 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Trisomy 8P |
|
Short nose, Retrognathia, Annular pancreas, Anteverted nares, Bifid uvula, Cleft palate, Recurren... |
ORPHA:264450 |
| Perlman Syndrome |
|
Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Micrognathia, Cryp... |
OMIM:267000 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Chylomicron Retention Disease |
|
Growth delay, Steatorrhea, Fat malabsorption |
ORPHA:71 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Loeffler Endocarditis |
|
Weight loss, Left ventricular hypertrophy |
ORPHA:75566 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Short nose, High palate, Intestinal malrotation, Cleft palate, Abnormal duodenum morphology, Micr... |
OMIM:601776 |
| Mullegama-Klein-Martinez Syndrome |
|
Congenital diaphragmatic hernia, Facial palsy, Short stature, Micrognathia, Prominent nose, Bulbo... |
OMIM:301022 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Failure to thrive, Weight loss, Aplasia/Hypoplasia of the abdominal wall... |
ORPHA:354 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
| Mosaic Trisomy 16 |
|
Abnormality of the nose, Abnormality of the gastrointestinal tract, Meckel diverticulum, Craniofa... |
ORPHA:1708 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss |
ORPHA:79242 |
| Polymyositis |
|
Abnormal muscle fiber morphology, Weight loss |
ORPHA:732 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Knee flexion contracture, Weakness of facial musculature, Hypoplasia o... |
ORPHA:2020 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Abnormal duodenum morphology, Abnormal stomach morphology, Intussusc... |
ORPHA:512 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Breast aplasia, High palate, Choanal atresia, Anal atresia, Short stature, Growth ... |
OMIM:617063 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia |
ORPHA:2072 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Acholic stools, Steatorrhea, Fat malabsorption |
OMIM:607765 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Muscular dystrophy, Skeletal muscle hypertrophy, Congenital contracture, Increased variability in... |
OMIM:613150 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Primrose Syndrome |
|
Delayed puberty, Increased size of the mandible, Anteverted nares, Distal amyotrophy, Calcificati... |
OMIM:259050 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Distal Deletion 19P |
|
Hypoplasia of the maxilla, Cleft palate |
ORPHA:96129 |
| Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Short nose, Retrognathia, Bilateral choanal atresia, Anteverted nares, Aplastic zygomatic arch, H... |
OMIM:616462 |
| Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, High palate, Choanal... |
ORPHA:84 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Bile duct proliferation |
ORPHA:79302 |
| Singleton-Merten Syndrome 1 |
|
Hypoplasia of the tooth germ, Eruption failure, Hypoplasia of the maxilla, Tendon rupture, Muscle... |
OMIM:182250 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Ragged-red muscle fibers, Growth delay, Increased variability in muscle fiber diameter, Rhabdomyo... |
ORPHA:17 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Gerstmann-Straussler Disease |
|
Weight loss, Lower limb muscle weakness |
OMIM:137440 |
| Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Gastritis, Melena, Nasal congestion, Sinusitis, Enteroc... |
ORPHA:73263 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Retrognathia, Hypoplasia of the diaphragm, Micrognathia, Neonata... |
OMIM:614437 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
| Diaphragmatic Hernia 2 |
|
Congenital diaphragmatic hernia, Agenesis of the diaphragm |
OMIM:222400 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Proteus Syndrome |
|
Cachexia, Decreased muscle mass, Myofibrillar myopathy |
ORPHA:744 |
| Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Pancreatic hypoplasia |
ORPHA:1666 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Short nose, Gastroesophageal reflux, Intrauterine growth retardation, Proportionate short stature... |
ORPHA:500150 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
| Genitopatellar Syndrome |
|
Anal stenosis, Wide nose, Delayed eruption of teeth, Anal atresia, Prominent nose, Micrognathia, ... |
OMIM:606170 |
| Aicardi-Goutieres Syndrome 9 |
|
Left ventricular hypertrophy, Failure to thrive, Weight loss, Lower limb hypertonia |
OMIM:619487 |
| Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
| Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Weight loss |
ORPHA:465508 |
| Aicardi Syndrome |
|
Postnatal growth retardation, Anteverted nares, Cleft palate, Hepatoblastoma, Prominence of the p... |
OMIM:304050 |
| Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Aicardi Syndrome |
|
Delayed puberty, Intestinal polyposis, Gastroesophageal reflux, Cleft palate, Hepatoblastoma, Pro... |
ORPHA:50 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... |
ORPHA:141127 |
| Syndromic Diarrhea |
|
Gastritis, Colitis, Hypoplasia of the thymus, Intrauterine growth retardation, Short stature, Hep... |
ORPHA:84064 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Wolf-Hirschhorn Syndrome |
|
Gastroesophageal reflux, Severe postnatal growth retardation, Intrauterine growth retardation, Sh... |
OMIM:194190 |
| Thyrotoxic Periodic Paralysis |
|
Obesity, Rhabdomyolysis, Weight loss, Increased intramyocellular lipid droplets, Abnormal muscle ... |
ORPHA:79102 |
| Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Weight loss, Lower limb muscle weakness |
ORPHA:370348 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
| Cystic Echinococcosis |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:400 |
| Hydrolethalus Syndrome 1 |
|
Stillbirth, Midline defect of the nose, Adrenal gland dysgenesis, Micrognathia, Bifid nose, Intra... |
OMIM:236680 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia, Myocardial calcification |
ORPHA:75565 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Myopathy, Weight loss |
ORPHA:85450 |
| Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Postnatal growth retardation, Rhizomelia, Disproportionate short-limb short... |
OMIM:261540 |
| Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Anteverted nares, Short stature, Micrognathia, Cleft palate, Malar flattenin... |
OMIM:274000 |
| Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:212750 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
| Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Delayed puberty, Abnormal intestine morphology, Esophageal carcinoma, Enterocolitis, Short statur... |
ORPHA:391487 |
| Norrie Disease |
|
Cachexia, Failure to thrive |
ORPHA:649 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
| Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
| Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
| Al Amyloidosis |
|
Macroglossia, Weight loss |
ORPHA:85443 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
| Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Familial Colorectal Cancer Type X |
|
Flexion contracture, Weight loss |
ORPHA:440437 |
| Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
| Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
| Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Hereditary Late-Onset Parkinson Disease |
|
Hypomimic face, Weight loss |
ORPHA:411602 |
| Giant Cell Arteritis |
|
Weight loss |
ORPHA:397 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:199299 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Lower-limb joint contracture, Failure to thrive, Arthrogryposis multiplex congenita, Weight loss |
ORPHA:99885 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Weight loss |
OMIM:301310 |
| Viss Syndrome |
|
Retrognathia, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysphagia, Chronic... |
OMIM:619472 |
| Alveolar Echinococcosis |
|
Abnormal skeletal muscle morphology, Abnormality of the diaphragm, Weight loss |
ORPHA:284 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
| Adult-Onset Still Disease |
|
Weight loss |
ORPHA:829 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Single naris, Choanal atresia, Micrognathia, Adrenal gland agenesis |
OMIM:273395 |
| Liver Disease, Severe Congenital |
|
Protein-losing enteropathy, Chronic gastritis, Narrow nasal ridge, Pancreatic hypoplasia, Biliary... |
OMIM:619991 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow palate, Short nose, Meckel diverticulum, Anteverted nares, Mandibular prognathia, Exaggera... |
OMIM:312870 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
| Neuroblastoma |
|
Weight loss |
ORPHA:635 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss |
ORPHA:20 |
| Mucolipidosis Type Ii |
|
Diastasis recti, Left ventricular hypertrophy, Hip contracture, Weight loss, Knee flexion contrac... |
ORPHA:576 |
| Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
| Insulin-Resistance Syndrome Type B |
|
Increased body weight, Decreased body weight, Abnormality of body weight, Weight loss |
ORPHA:2298 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Small bowel diverticula, Intrauterine growth retardation |
ORPHA:90349 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
| Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
| Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
| Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
| Cystinosis, Nephropathic |
|
Failure to thrive, Skeletal muscle atrophy, Weight loss, Failure to thrive in infancy, Myopathy |
OMIM:219800 |
| Rat-Bite Fever |
|
Tendonitis, Weight loss |
ORPHA:31205 |
| Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
| Caroli Disease |
|
Weight loss |
ORPHA:53035 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Weight loss |
ORPHA:95409 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
| Castleman Disease |
|
Weight loss |
ORPHA:160 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Weight loss |
ORPHA:85408 |
| Q Fever |
|
Weight loss |
ORPHA:781 |
| Primary Sclerosing Cholangitis |
|
Generalized amyotrophy, Weight loss |
ORPHA:171 |
| Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
| Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
| Autosomal Dominant Cutis Laxa |
|
Intrauterine growth retardation, Postnatal growth retardation, Small bowel diverticula |
ORPHA:90348 |
| Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
| Erdheim-Chester Disease |
|
Weight loss |
ORPHA:35687 |
| Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
| Aicardi-Goutieres Syndrome 7 |
|
Limb hypertonia, Weight loss |
OMIM:615846 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
| Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
| Choreoacanthocytosis |
|
Distal amyotrophy, Muscle fiber atrophy, Peroneal muscle atrophy, Weight loss, Myopathy |
ORPHA:2388 |
| Addison Disease |
|
Failure to thrive, Weight loss |
ORPHA:85138 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
| Lynch Syndrome |
|
Flexion contracture, Weight loss |
ORPHA:144 |
| Brucellosis |
|
Failure to thrive, Small for gestational age, Weight loss |
ORPHA:1304 |
| Ppoma |
|
Weight loss |
ORPHA:97278 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Craniofacial Microsomia 1 |
|
Branchial anomaly, Maxillozygomatic hypoplasia, Hypoplasia of the maxilla, Micrognathia, Hypoplas... |
OMIM:164210 |
| Tsh-Secreting Pituitary Adenoma |
|
Weight loss |
ORPHA:91347 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:900 |
| Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
| Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
| Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
| Vipoma |
|
Weight loss |
ORPHA:97282 |
| Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
| Grfoma |
|
Weight loss |
ORPHA:97261 |
| Glucagonoma |
|
Weight loss |
ORPHA:97280 |
| Plague |
|
Hematemesis, Glossitis, Inflammation of the large intestine, Enterocolitis, Ileitis |
ORPHA:707 |
| Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
| Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Disproportionate short-trunk short stature |
OMIM:300106 |
| Nocardiosis |
|
Weight loss |
ORPHA:31204 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased body weight, Proximal amyotrophy, Weight loss, Abdominal obesity, Truncal obesity |
ORPHA:99889 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Multiple Endocrine Neoplasia Type 1 |
|
Weight loss |
ORPHA:652 |
| Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
| Chronic Graft Versus Host Disease |
|
Flexion contracture, Weight loss |
ORPHA:99921 |
| Kikuchi-Fujimoto Disease |
|
Weight loss |
ORPHA:50918 |
| Systemic Lupus Erythematosus |
|
Weight loss |
ORPHA:536 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
| Sarcoidosis |
|
Facial palsy, Weight loss |
ORPHA:797 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
| African Trypanosomiasis |
|
Weight loss |
ORPHA:3385 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
| Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
