Myositis |
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Myositis |
OMIM:160750 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
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Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
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Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... |
OMIM:253600 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
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Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs |
ORPHA:565899 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
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Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
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Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... |
OMIM:618655 |
Gne Myopathy |
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Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Hereditary Myopathy With Early Respiratory Failure |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... |
ORPHA:178464 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
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Skeletal muscle atrophy, Spinal muscular atrophy |
OMIM:182970 |
Myopathy, Distal, With Rimmed Vacuoles |
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Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Spinal Muscular Atrophy, Infantile, James Type |
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Hip contracture, Distal muscle weakness, Short stature, Distal amyotrophy, Type 1 muscle fiber pr... |
OMIM:619042 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
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Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... |
OMIM:618848 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
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Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
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Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... |
ORPHA:266 |
Focal Myositis |
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Myositis |
ORPHA:48918 |
Oculopharyngodistal Myopathy 2 |
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Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... |
OMIM:618940 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:619324 |
Immune-Mediated Necrotizing Myopathy |
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Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Myocarditis, Proximal muscle weak... |
ORPHA:206569 |
Papa Syndrome |
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Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
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Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness, Facial palsy, ... |
OMIM:254110 |
Myopathy, Sarcoplasmic Body |
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Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:620286 |
Progressive Nodular Histiocytosis |
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Cachexia |
ORPHA:158022 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
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Hip contracture, Neck flexor weakness, Elbow contracture, Ankle contracture, Proximal muscle weak... |
OMIM:620386 |
Congenital Myopathy 8 |
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Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... |
OMIM:618654 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
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Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Inclusion Body Myositis |
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Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... |
ORPHA:611 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... |
OMIM:619733 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
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Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... |
OMIM:615424 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
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Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... |
OMIM:613204 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
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Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... |
OMIM:608099 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
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Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... |
OMIM:300717 |
Spinal Muscular Atrophy, Type Iv |
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Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Congenital Myopathy 6 With Ophthalmoplegia |
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Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal muscle weakness... |
OMIM:605637 |
Eosinophilic Fasciitis |
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Arthritis, Fasciitis, Muscular edema, Myositis |
ORPHA:3165 |
Tibial Muscular Dystrophy |
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Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
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Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617760 |
Congenital Myopathy 14 |
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Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... |
OMIM:618414 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
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Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... |
OMIM:117000 |
Tubular Aggregate Myopathy |
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Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... |
ORPHA:2593 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
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Cachexia |
ORPHA:1144 |
Myopathy, Scapulohumeroperoneal |
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Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
Meckel Diverticulum |
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Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
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Protein-losing enteropathy |
OMIM:613793 |
Mulibrey Nanism |
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Cachexia |
ORPHA:2576 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
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Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... |
OMIM:616313 |
Myofibrillar Myopathy 11 |
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Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Z-band streami... |
OMIM:619178 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Skeletal muscle atrophy, Myositis, Flexion contracture, Panniculitis |
OMIM:619183 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
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Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... |
OMIM:603689 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
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Proximal muscle weakness, Gowers sign, Myopathy, Limb-girdle muscular dystrophy, Increased variab... |
OMIM:612937 |
Multicentric Reticulohistiocytosis |
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Cachexia |
ORPHA:139436 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
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Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... |
OMIM:608807 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... |
OMIM:618129 |
Bethlem Myopathy 2 |
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Scapular winging, Proximal muscle weakness, Flexion contracture, Myopathy, Increased variability ... |
OMIM:616471 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Short stature, Facial palsy, Micrognathia, Respiratory insufficiency due to muscle weakness, Myop... |
OMIM:300580 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
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Skeletal muscle atrophy, Flexion contracture, Myopathy, Cachexia |
ORPHA:157973 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... |
OMIM:300696 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Adult-Onset Nemaline Myopathy |
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Neck flexor weakness, Micrognathia, Respiratory insufficiency due to muscle weakness, Flexion con... |
ORPHA:171442 |
Nemaline Myopathy 2 |
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Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
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Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... |
OMIM:620265 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
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Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Distal Myopathy, Tateyama Type |
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Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... |
ORPHA:488650 |
Pyoderma Gangrenosum |
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Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
Cardiomyopathy, Dilated, 1X |
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Calf muscle hypertrophy, Gowers sign, Increased variability in muscle fiber diameter, Proximal mu... |
OMIM:611615 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... |
ORPHA:34516 |
Rhabdomyolysis, Susceptibility To, 1 |
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Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... |
OMIM:620235 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
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Ragged-red muscle fibers, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Myasthenic Syndrome, Congenital, 14 |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Gowers... |
OMIM:616228 |
Periodic Fever, Familial, Autosomal Dominant |
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Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas |
OMIM:142680 |
Myopathy, Distal, Tateyama Type |
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Neck flexor weakness, Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic... |
OMIM:614321 |
Zebra Body Myopathy |
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Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness,... |
ORPHA:97240 |
Myopathy, Tubular Aggregate, 1 |
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Proximal muscle weakness, External ophthalmoplegia, Flexion contracture, Type 2 muscle fiber atro... |
OMIM:160565 |
Idiopathic Camptocormia |
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Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... |
ORPHA:1320 |
Congenital Myopathy 20 |
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Skeletal muscle atrophy, Scapular winging, Depressed nasal bridge, Elbow contracture, Micrognathi... |
OMIM:620310 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... |
OMIM:300718 |
Graft Versus Host Disease |
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Skeletal muscle atrophy, Fasciitis, Myositis, Dupuytren contracture, Maculopapular exanthema, Pne... |
ORPHA:39812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Increased variability in m... |
OMIM:253601 |
Diencephalic Syndrome |
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Cachexia, Decreased body weight |
ORPHA:1672 |
Congenital Myopathy 18 |
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Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... |
OMIM:620246 |
Oculopharyngodistal Myopathy 3 |
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Internally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased variability in muscle fib... |
OMIM:619473 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
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Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... |
ORPHA:98905 |
Congenital Muscular Dystrophy, Ullrich Type |
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Torticollis, Micrognathia, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion c... |
ORPHA:75840 |
Congenital Myopathy 10B, Mild Variant |
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Neck flexor weakness, Elbow contracture, Proximal muscle weakness, Fatty replacement of skeletal ... |
OMIM:620249 |
Moynahan Syndrome |
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Cachexia |
ORPHA:2574 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
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Proximal muscle weakness, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy,... |
OMIM:616924 |
Maxillonasal Dysplasia |
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Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... |
ORPHA:1248 |
Congenital Myopathy 3 With Rigid Spine |
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Poor head control, Short stature, Facial palsy, Neck flexor weakness, Centrally nucleated skeleta... |
OMIM:602771 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
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Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Genetic Recurrent Myoglobinuria |
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Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Abnorm... |
ORPHA:99845 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Hypoplasia of the maxilla, Short stature, Broad nasal tip |
ORPHA:2776 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... |
OMIM:612999 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... |
OMIM:618138 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
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Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:617066 |
Pulmonary Blastoma |
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Weight loss |
ORPHA:64741 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle muscle weakness... |
ORPHA:86812 |
Tuberculosis |
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Weight loss |
ORPHA:3389 |
Childhood-Onset Nemaline Myopathy |
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Scapular winging, Micrognathia, Respiratory insufficiency due to muscle weakness, Fatigable weakn... |
ORPHA:171439 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Skeletal muscle atrophy, Myositis, Skin rash, Pustule, Pustular rash, Malar rash |
OMIM:615934 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
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Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Muscular dystrophy, Neck ... |
OMIM:614302 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... |
OMIM:620138 |
Congenital Myopathy 10A, Severe Variant |
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Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... |
OMIM:614399 |
Microphthalmia, Syndromic 12 |
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Congenital diaphragmatic hernia, Broad nasal tip, Micrognathia, Cryptorchidism, Wide nasal bridge... |
OMIM:615524 |
Congenital Myopathy 1B, Autosomal Recessive |
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Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
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Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Decreased testicular size, Anal ... |
ORPHA:93950 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
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Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... |
OMIM:613157 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
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Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617072 |
Isaacs Syndrome |
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Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
Oculopharyngodistal Myopathy 4 |
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Distal muscle weakness, Autophagic vacuoles, Fatty replacement of skeletal muscle, External ophth... |
OMIM:619790 |
Riboflavin Transporter Deficiency |
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Skeletal muscle atrophy, Limb muscle weakness, Facial palsy, Cachexia |
ORPHA:97229 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis |
OMIM:617591 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Respi... |
ORPHA:486815 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
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Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... |
OMIM:253700 |
Hemifacial Hyperplasia |
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Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Craniofacial-Deafness-Hand Syndrome |
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Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Depress... |
ORPHA:1529 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
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Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Gowers sign, Achilles tend... |
ORPHA:353 |
Antisynthetase Syndrome |
|
Myocarditis, Keratoconjunctivitis sicca, Myositis, Skin rash |
ORPHA:81 |
Severe X-Linked Mitochondrial Encephalomyopathy |
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Skeletal muscle atrophy, Generalized muscle weakness, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
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Hypoplasia of the maxilla, Wide nasal bridge, Muscle weakness |
OMIM:618302 |
Bile Acid Malabsorption, Primary, 1 |
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Growth delay, Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... |
OMIM:255310 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Tubul... |
ORPHA:183 |
Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca |
ORPHA:809 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... |
ORPHA:37042 |
Mcdonough Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia |
ORPHA:2471 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Bulbous nose, Left ventricular noncompact... |
OMIM:617228 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Short stature, Carious teeth, Motheaten muscle fibers, Muscular dystrophy, Increased variability ... |
OMIM:226670 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis |
ORPHA:93552 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Gowers sign, Cryptorchidism... |
OMIM:618484 |
20P12.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Wide nasal bridge, Malar flatte... |
ORPHA:261295 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... |
OMIM:611705 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Short stature |
ORPHA:93945 |
Whipple Disease |
|
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis |
ORPHA:3452 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1933 |
Christianson Syndrome |
|
Arthrogryposis multiplex congenita, Decreased muscle mass, Cachexia |
ORPHA:85278 |
Myasthenia Gravis |
|
Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis |
ORPHA:589 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Short stature, Convex nasal ridge |
OMIM:156510 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Neonatal death, Arthrogry... |
OMIM:618186 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... |
ORPHA:2552 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Facial hypotonia, Lower limb muscle weakness, Lower limb amyotrophy |
OMIM:300266 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidism, High palate, De... |
ORPHA:85279 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypoplastic frontal sinuses, Wide na... |
OMIM:136760 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Typical Nemaline Myopathy |
|
Neck flexor weakness, Facial palsy, Micrognathia, Fatigable weakness of distal limb muscles, Limb... |
ORPHA:171436 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... |
ORPHA:258 |
Alpha-Heavy Chain Disease |
|
Growth delay, Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:2047 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Thymoma |
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Rheumatoid arthritis, Myositis, Glomerulonephritis, Ulcerative colitis |
ORPHA:99867 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
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Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
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Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight loss, Abnormality of the extrao... |
ORPHA:298 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:3242 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct... |
ORPHA:32960 |
Congenital Myopathy 22A, Classic |
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Hip contracture, Scapular winging, Micrognathia, Centrally nucleated skeletal muscle fibers, Gowe... |
OMIM:620351 |
Lowry-Maclean Syndrome |
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Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ... |
ORPHA:2409 |
Myopathy, Myofibrillar, 7 |
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Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Pyomyositis |
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Recurrent cutaneous abscess formation, Myositis |
ORPHA:764 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Skeletal muscle atrophy, Distal arthrogryposis, Myopathy, Cachexia |
ORPHA:42 |
Myasthenic Syndrome, Congenital, 19 |
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Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Micrognathia, Proximal mus... |
OMIM:616720 |
Myopathic Ehlers-Danlos Syndrome |
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Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Combined Oxidative Phosphorylation Deficiency 8 |
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Neonatal death, Increased variability in muscle fiber diameter, Generalized muscle weakness |
OMIM:614096 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Hypotonia, Infantile, With Psychomotor Retardation |
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Respiratory insufficiency due to muscle weakness, Myopathy, Increased variability in muscle fiber... |
OMIM:616816 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
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Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... |
OMIM:616812 |
Idiopathic Achalasia |
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Weight loss |
ORPHA:930 |
Hernia, Anterior Diaphragmatic |
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Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Cardiomyopathy, Dilated, 3B |
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Increased variability in muscle fiber diameter |
OMIM:302045 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
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Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Wide nasal bridg... |
OMIM:620157 |
X-Linked Centronuclear Myopathy |
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Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... |
ORPHA:596 |
Secondary Short Bowel Syndrome |
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Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
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Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Small Bowel Atresia |
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Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Intrauterine growt... |
ORPHA:1201 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
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Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Wide nasal bridge, Limb ... |
OMIM:218000 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
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Anteverted nares, External ophthalmoplegia, Flexion contracture, Growth delay, Increased variabil... |
OMIM:619026 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
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Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge |
OMIM:300676 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
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Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Melanocytic Nevus Syndrome, Congenital |
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Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
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Increased variability in muscle fiber diameter, Short stature, Increased intramyocellular lipid d... |
OMIM:619065 |
Stickler Syndrome Type 1 |
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Hypoplasia of the maxilla, Short nose, Cleft palate |
ORPHA:90653 |
Split-Hand/Foot Malformation 3 |
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Microretrognathia, Hypoplasia of the maxilla, High palate, Cleft palate |
OMIM:246560 |
Axenfeld-Rieger Syndrome |
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Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Growth delay |
ORPHA:782 |
Juvenile Amyotrophic Lateral Sclerosis |
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Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Distal amyotrophy, Lower-limb jo... |
ORPHA:300605 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
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Increased variability in muscle fiber diameter, Enamel hypoplasia, Retrognathia |
OMIM:617915 |
Hypomandibular Faciocranial Dysostosis |
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Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening |
OMIM:241310 |
Mandibulofacial Dysostosis With Alopecia |
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Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b... |
OMIM:616367 |
Cap Myopathy |
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Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... |
ORPHA:171881 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
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Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... |
ORPHA:371364 |
Juvenile Dermatomyositis |
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Calcinosis, Myositis, Pericarditis, Skin rash, Arthritis |
ORPHA:93672 |
Amyotrophic Lateral Sclerosis 21 |
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Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea... |
OMIM:606070 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
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Flexion contracture, Cachexia, Weight loss |
ORPHA:1979 |
Keipert Syndrome |
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Hypoplasia of the maxilla, Depressed nasal bridge, Prominent nasal bridge, Short stature |
ORPHA:2662 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
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Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Isolated Congenital Hypoglossia/Aglossia |
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Weight loss |
ORPHA:141152 |
Dental Anomalies And Short Stature |
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Mandibular prognathia, Hypoplasia of the maxilla, Short stature, Amelogenesis imperfecta |
OMIM:601216 |
Proximal Myopathy With Extrapyramidal Signs |
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Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Ophthalmoplegia, Increased ... |
ORPHA:401768 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Retrognathia, Dysphagia, Short nose, Meckel diverticulum |
ORPHA:163961 |
Idiopathic Bronchiectasis |
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Cachexia |
ORPHA:60033 |
Undifferentiated Pleomorphic Sarcoma |
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Weight loss |
ORPHA:2023 |
Craniofacial-Deafness-Hand Syndrome |
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Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
Behçet Disease |
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Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
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Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
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Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Congenital Short Bowel Syndrome |
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Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Progressive distal muscle weakness, Proximal muscle weakness, Fatty replacement of skeletal muscl... |
ORPHA:397744 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Short stature, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening, Short nose |
ORPHA:79113 |
Acrodysostosis |
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Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Short... |
ORPHA:950 |
Ullrich Congenital Muscular Dystrophy 1 |
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Torticollis, Reduced muscle collagen VI, Facial palsy, Proximal muscle weakness, Respiratory insu... |
OMIM:254090 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Increased variability in muscle fiber diameter, Poor head control |
OMIM:613752 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:601809 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Distal muscle weakness, Short stature, Proximal muscle weakness, Fatty replacement of skeletal mu... |
ORPHA:52430 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nasal tip, Depressed nasal bridge, Abnormal dental enamel morpho... |
ORPHA:439822 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Hypoplasia of the maxilla, Congenital diaphragmatic hernia, Micrognathia |
OMIM:166300 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
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Gowers sign, Calf muscle hypertrophy, Myopathy, Pelvic girdle muscle weakness, Increased variabil... |
ORPHA:119 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Trigonocephaly 1 |
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High, narrow palate, Short nose, Meckel diverticulum, Wide nasal bridge |
OMIM:190440 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Aarskog-Scott Syndrome |
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Delayed eruption of teeth, Anteverted nares, Short stature, Hypoplasia of the maxilla, Cryptorchi... |
ORPHA:915 |
Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Short stature, Prominent nasal bridge, Congenital diaphragmatic hernia... |
OMIM:300978 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Facial pal... |
OMIM:258450 |
Intestinal Dysmotility Syndrome |
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Failure to thrive, Weight loss |
OMIM:620045 |
Huntington Disease-Like 2 |
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Weight loss |
ORPHA:98934 |
Pancreatic Colipase Deficiency |
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Growth delay, Cholelithiasis, Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anu... |
OMIM:615710 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... |
OMIM:300048 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... |
ORPHA:3044 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Lujan-Fryns Syndrome |
|
Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, High palate, Macroorchidism |
ORPHA:776 |
Agammaglobulinemia 4, Autosomal Recessive |
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Chronic sinusitis, Protein-losing enteropathy |
OMIM:613502 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Genera... |
OMIM:620278 |
Majeed Syndrome |
|
Failure to thrive, Flexion contracture, Cachexia, Weight loss |
ORPHA:77297 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia |
OMIM:312750 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... |
OMIM:601346 |
Atelosteogenesis, Type Iii |
|
Depressed nasal bridge, Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar ... |
OMIM:108721 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose |
OMIM:618737 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... |
ORPHA:289390 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis, Short nose, Micrognathia |
ORPHA:2547 |
Marshall Syndrome |
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Anteverted nares, Depressed nasal bridge, Short stature, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:560 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Depressed nasal ridge, Wide nasal bridge, Malar f... |
ORPHA:2412 |
Cohen Syndrome |
|
Short stature, Prominent nasal bridge, Decreased response to growth hormone stimulation test, Mic... |
OMIM:216550 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Ophthalmoplegia, Increased variability in muscle fiber diameter |
OMIM:125250 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles |
OMIM:264270 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorchidi... |
ORPHA:1307 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Choanal ... |
ORPHA:92050 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Short stature, Hypoplasia of the maxilla, Cleft palate, Short nose |
OMIM:614261 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge, Choanal atresia |
ORPHA:93262 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Short stature, Micrognathia, Hypoplasia of the maxilla, Long nose, Und... |
OMIM:257850 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Microretrognathia, Spinal muscular atrophy, Flexion contracture, Increased variability in muscle ... |
OMIM:616866 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Intrauterine growth retardation, Short stature |
OMIM:608154 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal bridge |
OMIM:601499 |
8Q22.1 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard palate, Depressed nasal ridge, Wi... |
ORPHA:178303 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Choana... |
OMIM:101600 |
Aarskog-Scott Syndrome |
|
Anteverted nares, Short stature, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:305400 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Short stature, Micrognathia, Proximal muscle weakness, Gowers sign, Increased variability in musc... |
ORPHA:502423 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysph... |
ORPHA:99772 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia |
ORPHA:99811 |
Mohr Syndrome |
|
Depressed nasal bridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, ... |
OMIM:252100 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... |
OMIM:613804 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge |
OMIM:167730 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Pycnodysostosis |
|
Obtuse angle of mandible, Rhizomelia, Decreased response to growth hormone stimulation test, Dela... |
ORPHA:763 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Distal lower limb amyotrophy, Short stature, Prominent nasal bridge, Facia... |
OMIM:300534 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Convex nasal ridge |
ORPHA:1540 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Steatorrhea, Hematoc... |
ORPHA:2070 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis m... |
OMIM:619334 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Short stature, Abnormal dental enamel morphology, Hypoplasia of the maxilla,... |
ORPHA:1798 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:397973 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Arthritis, Panniculitis |
ORPHA:51 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Facial hypotonia, Micrognathia, Respiratory insufficiency due to muscle ... |
OMIM:618578 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Convex nasal ridge, Choanal atresia, Narrow palate |
ORPHA:207 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Total ophthalmoplegia, Skeletal muscle atrophy, Progressive external ophthalmoplegia, Neck flexor... |
OMIM:157640 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia |
ORPHA:438134 |
Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Short stature, Supernumerary nipple, Underdeveloped nasal alae, Hypoplasi... |
OMIM:129400 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Proportionate short stature, Broad nasal tip, Hypoplasia of the maxilla, Postnatal growth retarda... |
ORPHA:79345 |
Xp22.13P22.2 Duplication Syndrome |
|
Mandibular prognathia, Short stature, Congenital diaphragmatic hernia, Broad nasal tip, Recurrent... |
ORPHA:284180 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r... |
ORPHA:2399 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build |
OMIM:603041 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Distal muscle weakness, Rhabdomyolysis, Ophthalmoparesis, Myopathy, Incr... |
OMIM:255125 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, Short stature, Micrognathia, Increased circulating prolactin concentration... |
OMIM:617675 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Congenital diaphragmatic hernia |
DECIPHER:39 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Recurrent upper respiratory... |
ORPHA:293939 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Skeletal muscle atrophy, Antever... |
ORPHA:192 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Thyroiditis, Tubulointerstitial nephritis, Abnormality of the extraocular muscles, Kera... |
ORPHA:79078 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Anteverted nares, Protein-losing enteropathy |
OMIM:618154 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Short stature, Persistence of primary teeth, Hypoplasia of the maxil... |
ORPHA:37553 |
Infantile Krabbe Disease |
|
Failure to thrive, Shoulder girdle muscle weakness, Cachexia |
ORPHA:206436 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla... |
ORPHA:251061 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognath... |
OMIM:616462 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Long nose, ... |
OMIM:309520 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia |
ORPHA:52503 |
Native American Myopathy |
|
Skeletal muscle atrophy, Short stature, Micrognathia, Cryptorchidism, Abnormality of skeletal mus... |
ORPHA:168572 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Mild ... |
OMIM:101800 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Distal muscle we... |
OMIM:607459 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Short stature, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Intrauteri... |
OMIM:616395 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Depressed nasal bridge, Wide nasal bridge, Colitis, Intrauterine growth retardation |
OMIM:614602 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Malar flattening, Short stature, Absent extraocular muscles |
OMIM:109120 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short stature, Short mandibular rami, Persistence of primary teeth, Hypoplasia of the maxilla, Mi... |
OMIM:170390 |
Chylomicron Retention Disease |
|
Growth delay, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Depressed nasal bridge, Anteverted nares, Micrognathia, Centrally nu... |
OMIM:616503 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
13Q12.3 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Cryptorchidism, Low in... |
ORPHA:412035 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex... |
ORPHA:87 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of skeletal muscle fiber size, Polycystic ovaries, Skeletal muscle hypertrophy, Myopa... |
ORPHA:2348 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Cachexia, Obesity |
ORPHA:85293 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Diastasis recti, Micrognathia, Hypoplasia of the maxill... |
OMIM:608149 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Knee flexion contracture, Weight loss, Distal amyotrophy, Skeletal myopa... |
ORPHA:3208 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Depressed nasal bridge, Mild postnatal growth retardation, Cryptorchid... |
OMIM:235510 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteriorly placed anu... |
OMIM:211380 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard pala... |
OMIM:613805 |
Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal muscle weakness, External oph... |
OMIM:164310 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Flexion contr... |
ORPHA:481152 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Short stature, Prominent nasal bridge, Hypoplasia of the ma... |
ORPHA:50814 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Anteverted nares |
ORPHA:228396 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1969 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Supernumerary nipple, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, Bilateral choan... |
OMIM:106260 |
Nager Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morphology, Cleft palate, Hypoplasia of t... |
ORPHA:245 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret... |
OMIM:614753 |
Van Maldergem Syndrome 2 |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclus... |
OMIM:615546 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Van Maldergem Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal bridge, Anteriorly place... |
OMIM:601390 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Growth delay, Short nose |
ORPHA:363417 |
Cerebrofacioarticular Syndrome |
|
Anal stenosis, Short stature, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/... |
ORPHA:314679 |
Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, ... |
OMIM:620370 |
Fetal Alcohol Syndrome |
|
Anteverted nares, Short stature, Congenital diaphragmatic hernia, Micrognathia, Intrauterine grow... |
ORPHA:1915 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Cholelithiasis... |
OMIM:232800 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Neonatal death, Intrauterine growth retardation, Protein-losing enteropathy, Cryptorchidism |
OMIM:608104 |
Oculoskeletodental Syndrome |
|
Short stature, Cryptorchidism, Wide nasal bridge, Macroglossia, Protein-losing enteropathy, Broad... |
OMIM:618440 |
Treacher-Collins Syndrome |
|
Branchial fistula, Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hypoplasia o... |
ORPHA:861 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Overhanging nasal tip |
OMIM:619142 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Weight loss |
OMIM:188580 |
Tarp Syndrome |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Tongue nodules, Glossoptosis, Hi... |
OMIM:311900 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Prominent nose, Wide nasal bridge, Growth delay, Cho... |
OMIM:614886 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Poor head control, Type 1 muscle fiber predominan... |
OMIM:612949 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:109 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Fat malabsorption, Short stature, Epistaxis |
OMIM:211600 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Hypoplasia of the musculature,... |
OMIM:265050 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Anteverted nares, Depress... |
OMIM:166250 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Anteverted nares, Congenital diaphragmatic hernia, Testicular atrophy |
OMIM:601163 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Skeletal muscle... |
ORPHA:800 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
Carpenter Syndrome 1 |
|
Depressed nasal bridge, Short stature, Persistence of primary teeth, Hypoplasia of the maxilla, M... |
OMIM:201000 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Short stature, Congenital diaphragmatic hernia, Underdeveloped nasal alae... |
ORPHA:250999 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Crouzon Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Deviated nasal septum, Dysgerminoma |
OMIM:123500 |
Alg6-Cdg |
|
Macroglossia, Protein-losing enteropathy |
ORPHA:79320 |
Tetrasomy 9P |
|
Arthritis, Myositis, Pericarditis |
ORPHA:3310 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Short stature, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla... |
OMIM:613803 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micrognathia, Cryptorchidism, Pancreatic lymphangiectasis, Wide nasal bridge, Cleft palate, High ... |
OMIM:235255 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, High palate, Bifid uvula |
OMIM:601110 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Absent nipple, Anteverted nares, Mic... |
OMIM:209885 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Short stature, Decreased response to growth... |
OMIM:610829 |
Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Short stature, Hypoplasia of the maxilla, Promine... |
ORPHA:794 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Aplasia of the nasal bone, Flexion contracture of finger, Prominent na... |
OMIM:601812 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Optic Atrophy 11 |
|
Facial diplegia, Short stature, Increased variability in muscle fiber diameter, Fiber type grouping |
OMIM:617302 |
Cooper-Jabs Syndrome |
|
Anteverted nares, Camptodactyly of finger, Congenital diaphragmatic hernia, Short stature, Malar ... |
ORPHA:1488 |
Cohen Syndrome |
|
Short stature, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micrognathia, Hypoplasia... |
ORPHA:193 |
Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Hypoplasia of the maxilla, Cryptorchidism, Wide nasal b... |
OMIM:608156 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Short stature, Decreased response to growth hormone stimulation test... |
OMIM:213980 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Depressed nasal bridge, Short stature, High, narrow palate, Rectal p... |
ORPHA:79076 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Martsolf Syndrome 1 |
|
Depressed nasal bridge, Short stature, Broad nasal tip, Hypoplasia of the maxilla, Micrognathia, ... |
OMIM:212720 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Micrognathia, Increased variability in muscle fiber diameter, Macroglossia, Hypoplas... |
OMIM:617022 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Broad nasal tip, Postnatal growth retardation, Micrognathia, Cryptorchidism, Pancreatic lymphangi... |
ORPHA:1655 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... |
OMIM:619461 |
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 |
|
Short stature, Congenital diaphragmatic hernia, Carious teeth, Long nose, Cryptorchidism, Camptod... |
OMIM:617602 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Frontorhiny |
|
Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Midline nasal groove, Hypop... |
ORPHA:391474 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss |
ORPHA:2221 |
Trisomy 18 |
|
Cachexia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:3380 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Wide nasal bridge, Intrauterine gr... |
ORPHA:2075 |
Glycogen Storage Disease Xii |
|
Short stature, Myopathy, Delayed puberty, Increased variability in muscle fiber diameter, Choleli... |
OMIM:611881 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Polycystic ovaries, Ske... |
ORPHA:79083 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Narrow nasal bridge, Hip contracture, Short stature, Interphalangeal j... |
OMIM:259600 |
Cat Eye Syndrome |
|
Anal stenosis, Short stature, Intestinal malrotation, Micrognathia, Rectal fistula, Rectal atresi... |
OMIM:115470 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia, Progressive muscle ... |
OMIM:615919 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Flexion contracture, Genera... |
OMIM:613327 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Cryptorchid... |
ORPHA:251071 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Anteverted nares, Short stature, Broad nasal tip, Hypoplasia of the maxill... |
OMIM:617402 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Short stature, Hepatocellular carcinoma |
OMIM:601847 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Wide nasa... |
OMIM:609460 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Proximal muscle weaknes... |
ORPHA:70595 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Depressed nasal bridge, Increased variability in muscle fiber diameter |
OMIM:604377 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Esophageal stenosis, Short stature, Malabsorption, Hypoplasia of the ma... |
ORPHA:1775 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Abdominal wall muscle weakness, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Crypto... |
OMIM:182212 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Xerostomia, Breast aplasia |
ORPHA:238468 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Apla... |
OMIM:305100 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Poor head control |
OMIM:615595 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma |
ORPHA:647 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Severe short stature, Hypoplasia of the maxilla, Camptodactyly, Malar flat... |
OMIM:231070 |
Diamond-Blackfan Anemia 10 |
|
Short stature, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Morgagni diaphragm... |
OMIM:613309 |
Ear-Patella-Short Stature Syndrome |
|
Severe short stature, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Cryptorchidis... |
ORPHA:2554 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macroglossia, Protruding tongue |
OMIM:105830 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Tarp Syndrome |
|
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Cleft palate, Glossoptosis, Ab... |
ORPHA:2886 |
Van Den Ende-Gupta Syndrome |
|
Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Underdeveloped nasal alae, Elbow... |
OMIM:600920 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:306542 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Weill-Marchesani Syndrome 1 |
|
Short stature, Depressed nasal bridge, Proportionate short stature, Hypoplasia of the maxilla, Na... |
OMIM:277600 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Postnatal growth retardation, Fat malabsorption, Steatorrhea |
ORPHA:79303 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Seckel Syndrome 9 |
|
Short stature, Congenital diaphragmatic hernia, Micrognathia, Intrauterine growth retardation, Co... |
OMIM:616777 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Slender build, Facial palsy, Cachexia |
ORPHA:1328 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Generalized muscle weakness, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Serkal Syndrome |
|
Growth delay, Malrotation of small bowel |
ORPHA:139466 |
Greenberg Dysplasia |
|
Depressed nasal bridge, Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Costal cartilage cal... |
OMIM:215140 |
Shprintzen-Goldberg Syndrome |
|
Anteverted nares, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Cryptorchidis... |
ORPHA:2462 |
Zttk Syndrome |
|
Absent gallbladder, Depressed nasal bridge, Short stature, Hypoplasia of the maxilla, Submucous c... |
OMIM:617140 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Abnormal skeletal muscle morphology |
ORPHA:142 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Severe short stature, Hypoplasia of the maxilla... |
ORPHA:2588 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Bilateral cryptorch... |
OMIM:180849 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Severe short stature, Short stature, Congenital diaphragmatic hernia, ... |
OMIM:601186 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Weight loss |
OMIM:180300 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Cachexia, Contractures of the large joints, Congenital contracture, Limb... |
ORPHA:191 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy |
OMIM:616538 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Absent nipple, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the ... |
ORPHA:1299 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Ablepharon Macrostomia Syndrome |
|
Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Hyp... |
ORPHA:920 |
Wilson Disease |
|
Proximal muscle weakness in lower limbs, Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Stickler Syndrome |
|
Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridge, Micrognathia, Hypopl... |
ORPHA:828 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Slender build, Cachexia |
ORPHA:558 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Immunodeficiency 31C |
|
Villous atrophy, Short stature, Gastrointestinal eosinophilia, Growth delay, Protein-losing enter... |
OMIM:614162 |
Scedosporiosis |
|
Sinusitis, Abnormal jejunum morphology |
ORPHA:449280 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Depressed nasal bridge, Underdeve... |
OMIM:219000 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Underdeveloped nasal alae, Bilateral cryp... |
OMIM:263650 |
Fryns Syndrome |
|
Microretrognathia, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Ante... |
OMIM:229850 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Annular pancreas, Tracheoesoph... |
ORPHA:210122 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Netherton Syndrome |
|
Villous atrophy, Allergic rhinitis, Chronic rhinitis, Recurrent infection of the gastrointestinal... |
OMIM:256500 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Chylomicron Retention Disease |
|
Growth delay, Fat malabsorption, Steatorrhea |
ORPHA:71 |
Saethre-Chotzen Syndrome |
|
Short stature, Hypoplasia of the maxilla, Long nose, Prominent crus of helix, Cleft of chin, Clef... |
OMIM:101400 |
Myhre Syndrome |
|
Mandibular prognathia, Short stature, Prominent nasal bridge, Hypoplasia of the maxilla, Cryptorc... |
OMIM:139210 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Choanal atresia, Decreased response to ... |
OMIM:129900 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Choanal atresia, Decreas... |
OMIM:604292 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosis, Short nose |
OMIM:200995 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Wide nose, Anteverted nares, Depressed nasal bridge, Short stature, Microg... |
ORPHA:96334 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Acholic stools, Steatorrhea |
OMIM:607765 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption |
OMIM:600955 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Cryptorchidism, Malrotation of small bowel, Cleft palate, Prominent nasolabial... |
ORPHA:2953 |
Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Cleft palate, Birth length less than 3rd... |
OMIM:224690 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Micrognathia, Cryptorchidism, Recurrent upper respiratory tract infections, Hematochezia, Protein... |
OMIM:618183 |
Oromandibular Dystonia |
|
Torticollis, Weight loss |
ORPHA:93958 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Marshall-Smith Syndrome |
|
Microretrognathia, Prominence of the premaxilla, Anteverted nares, Choanal atresia, Depressed nas... |
OMIM:602535 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Bile duct proliferation |
ORPHA:79302 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Anal stenosis, Decreased response to growth hormone stimulation test, Hypoplasia of the maxilla, ... |
OMIM:180500 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Meckel diverticulum, Intestinal malrotation, Micrognathia, Esophageal atresia, Tracheoesophageal ... |
OMIM:265380 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Abnormal small intestine morphology, Sinusitis, Par... |
ORPHA:51636 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the musculature, Hypoplasia of the ... |
ORPHA:1101 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Intrauterine growth retard... |
ORPHA:2470 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Short stature, Micrognathia, Hypoplasia of ... |
ORPHA:1106 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Short statur... |
OMIM:614188 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Micrognathia, Biliary hyperplasia, Pancreatic cy... |
ORPHA:731 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, Short stature, Persistence of primary teeth, Hypoplasia of the maxilla, Celi... |
ORPHA:2044 |
Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Short stature, Proportionate short stature, Hypoplasia of the maxilla, Na... |
OMIM:608328 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Colitis, Recurrent upper respiratory tract infections, Malabsorption |
OMIM:209920 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Retrognathia, Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Trisomy 8P |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Malrotation of small bowel, Recurrent u... |
ORPHA:264450 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Abnormality of the nose, Anteriorly placed anus, Intra... |
ORPHA:1708 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Short stature, Congenital diaphragmatic hernia, Prominent nose, Micrognat... |
OMIM:301022 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Weight loss, Macro... |
ORPHA:354 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Perlman Syndrome |
|
Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the abdomina... |
OMIM:267000 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Abnormality of the gastrointestinal tract, Hypopituitarism, Sinusitis,... |
ORPHA:811 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss |
ORPHA:79242 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contracture, Fle... |
ORPHA:2020 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Postnatal growth retardation, Fat malabsorption, Short stature |
ORPHA:96180 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Short col... |
OMIM:601776 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Polymyositis |
|
Weight loss, Abnormal muscle fiber morphology |
ORPHA:732 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia |
ORPHA:2072 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption |
OMIM:214950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... |
ORPHA:512 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Short stature, Choanal atresia, Cryptorchidism, Cleft palate, Duodenal stenosis, A... |
OMIM:617063 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Calcification of the auricular cartilage, Anteverted na... |
OMIM:259050 |
Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Hiatus hernia, Malabsorption, Cleft palate, G... |
ORPHA:50 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Rhabdomyolysis, Growth de... |
ORPHA:17 |
Singleton-Merten Syndrome 1 |
|
Short stature, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Muscle fiber atrophy, ... |
OMIM:182250 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Cleft palate |
ORPHA:96129 |
Gerstmann-Straussler Disease |
|
Lower limb muscle weakness, Weight loss |
OMIM:137440 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon |
OMIM:155310 |
Fanconi Anemia |
|
Aganglionic megacolon, Choanal atresia, Short stature, Micrognathia, Aplasia/Hypoplasia of the uv... |
ORPHA:84 |
Proteus Syndrome |
|
Myofibrillar myopathy, Decreased muscle mass, Cachexia |
ORPHA:744 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognath... |
OMIM:614437 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
Dextrocardia |
|
Pancreatic hypoplasia, Meckel diverticulum, Intestinal malrotation |
ORPHA:1666 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Sinusitis, Gastritis, Epistaxis, Hematemesis, Enterocolitis, Hematoc... |
ORPHA:73263 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Aicardi-Goutieres Syndrome 9 |
|
Left ventricular hypertrophy, Lower limb hypertonia, Failure to thrive, Weight loss |
OMIM:619487 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Depressed nasal bridge, Proportionate short stature, Hypoplasia of the maxill... |
ORPHA:500150 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Weight loss |
ORPHA:465508 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Wide nose, Prominent nasal bridge, Micrognathia, Promin... |
OMIM:606170 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Lower limb muscle weakness, Weight loss |
ORPHA:370348 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Hiatus hernia, Postnatal growth retardation, Clef... |
OMIM:304050 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Short stature, Wide nasal bridge, Colitis, Hypoplasia of the thymus, ... |
ORPHA:84064 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Wolf-Hirschhorn Syndrome |
|
Short stature, Micrognathia, Cryptorchidism, Malrotation of small bowel, Wide nasal bridge, Cleft... |
OMIM:194190 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Cystic Echinococcosis |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:400 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Stillbirth, Bifid nose, Midline defect of the nose, Adrenal gland dysgenesis, Intra... |
OMIM:236680 |
Tropical Endomyocardial Fibrosis |
|
Cachexia, Myocardial calcification |
ORPHA:75565 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... |
ORPHA:79102 |
Thrombocytopenia-Absent Radius Syndrome |
|
Anteverted nares, Short stature, Micrognathia, Pancreatic cysts, Cleft palate, Malar flattening, ... |
OMIM:274000 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Acholic stools, Fat malabsorption, Bile duct proliferation, Hypopituitarism |
ORPHA:30391 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:212750 |
Peters-Plus Syndrome |
|
Rhizomelia, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Postnatal growth retar... |
OMIM:261540 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Myopathy, Weight loss |
ORPHA:85450 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Short stature, Esophageal carcinoma, Recurrent upper respiratory tract infection... |
ORPHA:391487 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Al Amyloidosis |
|
Macroglossia, Weight loss |
ORPHA:85443 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Hypomimic face |
ORPHA:411602 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Lynch Syndrome |
|
Flexion contracture, Weight loss |
ORPHA:144 |
Giant Cell Arteritis |
|
Weight loss |
ORPHA:397 |
Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Single naris, Adrenal gland agenesis |
OMIM:273395 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Familial Colorectal Cancer Type X |
|
Flexion contracture, Weight loss |
ORPHA:440437 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:199299 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Alveolar Echinococcosis |
|
Weight loss, Abnormality of the diaphragm, Abnormal skeletal muscle morphology |
ORPHA:284 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Anteverted nares, Intestinal malrotation... |
OMIM:312870 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Biliary hyperplasia,... |
OMIM:619991 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Arthrogryposis multiplex congenita, Lower-limb joint contracture, Failure to thrive, Weight loss |
ORPHA:99885 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, High palate, Gastroesophageal reflux, Broad... |
OMIM:619472 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss |
ORPHA:20 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Mucolipidosis Type Ii |
|
Hip contracture, Diastasis recti, Weight loss, Knee flexion contracture, Left ventricular hypertr... |
ORPHA:576 |
Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Intrauterine growth retardation, Severe short stature, Small bowel diverticula |
ORPHA:90349 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss |
ORPHA:29072 |
Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Abetalipoproteinemia |
|
Fat malabsorption, Steatorrhea |
ORPHA:14 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Weight loss |
ORPHA:95409 |
Rat-Bite Fever |
|
Tendonitis, Weight loss |
ORPHA:31205 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Weight loss |
ORPHA:85408 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Failure to thrive in infancy, Myopathy, Weight loss |
OMIM:219800 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
Primary Sclerosing Cholangitis |
|
Generalized amyotrophy, Weight loss |
ORPHA:171 |
Autosomal Dominant Cutis Laxa |
|
Postnatal growth retardation, Intrauterine growth retardation, Small bowel diverticula |
ORPHA:90348 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
Erdheim-Chester Disease |
|
Weight loss |
ORPHA:35687 |
Aicardi-Goutieres Syndrome 7 |
|
Weight loss, Limb hypertonia |
OMIM:615846 |
Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
Addison Disease |
|
Failure to thrive, Weight loss |
ORPHA:85138 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Weight loss, Myopathy, Distal amyotrophy, Muscle fiber atrophy |
ORPHA:2388 |
Dermatomyositis |
|
Inflammatory myopathy, Weight loss |
ORPHA:221 |
Brucellosis |
|
Failure to thrive, Small for gestational age, Weight loss |
ORPHA:1304 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Micrognathia, Hypoplasia of the maxilla, Branchial anomaly, Mal... |
OMIM:164210 |
Tsh-Secreting Pituitary Adenoma |
|
Weight loss |
ORPHA:91347 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:900 |
Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Vipoma |
|
Weight loss |
ORPHA:97282 |
Glucagonoma |
|
Weight loss |
ORPHA:97280 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Disproportionate short-trunk short stature |
OMIM:300106 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased body weight, Weight loss, Proximal amyotrophy, Truncal obesity, Abdominal obesity |
ORPHA:99889 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss |
ORPHA:652 |
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 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
Kikuchi-Fujimoto Disease |
|
Weight loss |
ORPHA:50918 |
Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
Chronic Graft Versus Host Disease |
|
Flexion contracture, Weight loss |
ORPHA:99921 |
Sarcoidosis |
|
Facial palsy, Weight loss |
ORPHA:797 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
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 |