Arthrogryposis, Distal, Type 10 |
|
Camptodactyly of finger, Elbow flexion contracture, Hamstring contractures, Plantar flexion contr... |
OMIM:187370 |
Arthrogryposis, Congenital, Lower Limb, X-Linked |
|
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Gait disturbance, Arthrogry... |
OMIM:300158 |
Osteochondritis Dissecans |
|
Abnormality of the knee, Decreased hip abduction, Quadriceps muscle atrophy, Joint stiffness, Abn... |
ORPHA:2764 |
Panner Disease |
|
Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar... |
ORPHA:97336 |
Osgood-Schlatter Disease |
|
Abnormal patella morphology, Shuffling gait, Irregular proximal tibial epiphyses, Difficulty walk... |
ORPHA:97335 |
Intermittent Hydrarthrosis |
|
Abnormality of the knee, Knee joint hypermobility, Joint swelling, Chondrocalcinosis |
ORPHA:329967 |
Sinding-Larsen-Johansson Disease |
|
Painless fractures due to injury, Joint swelling, Osteochondrosis, Knee pain, Limitation of knee ... |
ORPHA:97337 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci... |
ORPHA:1416 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Waddling gait, Camptodactyly of... |
OMIM:208230 |
Arthrogryposis, Distal, Type 1B |
|
Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac... |
OMIM:614335 |
Genochondromatosis Type 1 |
|
Abnormality of the knee, Multiple enchondromatosis |
ORPHA:85197 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... |
ORPHA:85435 |
Camptodactyly-Tall Stature-Scoliosis-Hearing Loss Syndrome |
|
Abnormality of lower limb joint, Camptodactyly of finger |
ORPHA:85164 |
Tenosynovial Giant Cell Tumor |
|
Abnormality of the knee, Lymphedema, Joint stiffness, Polyarticular arthropathy, Abnormality of t... |
ORPHA:66627 |
Popliteal Cyst |
|
Abnormality of the knee, Joint swelling |
OMIM:175750 |
Mosaic Trisomy 15 |
|
Deviation of finger, Camptodactyly of finger, Abnormality of the hand |
ORPHA:1706 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ... |
ORPHA:1525 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint m... |
ORPHA:1159 |
Camptodactyly 1 |
|
Knee dislocation, Joint subluxation, Camptodactyly of finger |
OMIM:114200 |
Osteochondrosis Of The Tarsal Bone |
|
Antalgic gait, Abnormal tarsal ossification, Pedal edema, Arthritis, Tarsal sclerosis, Tarsal sti... |
ORPHA:563991 |
Legg-Calvé-Perthes Disease |
|
Joint dislocation, Skeletal muscle atrophy, Cartilage destruction, Delayed skeletal maturation, A... |
ORPHA:2380 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Arthrogryposis, Distal, Type 2B2 |
|
Sandal gap, Broad hallux, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Joint swelling, Abnormal tibial metaphysis mo... |
ORPHA:668 |
Digitotalar Dysmorphism |
|
Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger |
OMIM:126050 |
Corpus Callosum, Agenesis Of |
|
Joint contracture of the hand, Camptodactyly |
OMIM:217990 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Joint stiffness, Joint swelling, Digital flexor tenosy... |
OMIM:180300 |
Lethal Congenital Contracture Syndrome 11 |
|
Polyhydramnios, Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilateral ... |
OMIM:617194 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... |
OMIM:615170 |
Metachondromatosis |
|
Multiple enchondromatosis, Abnormal joint morphology, Bowing of the long bones |
OMIM:156250 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Flexion contracture of toe, Spastic gait, Ankle flexion contracture, Knee flexion contracture |
ORPHA:320396 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis... |
ORPHA:93308 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Flattened metatarsal heads, Generalized morning stiffness, Coxa vara, Arthritis, Wri... |
OMIM:208250 |
Distal Arthrogryposis Type 1 |
|
Rocker bottom foot, Camptodactyly of finger, Joint stiffness, Ulnar deviation of finger, Abnormal... |
ORPHA:1146 |
Majeed Syndrome |
|
Osteomyelitis, Delayed skeletal maturation, Flexion contracture, Bone pain, Joint swelling |
OMIM:609628 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi... |
ORPHA:169805 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Ab... |
ORPHA:85408 |
Familial Afibrinogenemia |
|
Joint swelling |
ORPHA:98880 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Clinodactyly of the 5th finger, Short thumb, Overlapping toe, Camptodactyly |
OMIM:618453 |
Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Masa Syndrome |
|
Clinodactyly of the 5th finger, Gait disturbance, Camptodactyly of finger, Hand clenching |
ORPHA:2466 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Hemophilia A |
|
Joint swelling, Abnormality of the elbow, Joint hemorrhage, Intramuscular hematoma |
ORPHA:98878 |
Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... |
ORPHA:3248 |
Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Congenital hip dislocation, Decreased hip abduction, Single transverse palmar cr... |
OMIM:108120 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Diffuse palmoplantar hyperkeratosis, Clubbing, Palmo... |
ORPHA:2199 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Extensor Tendons Of Finger Anomalies |
|
Skeletal muscle atrophy, Camptodactyly of finger, Limitation of joint mobility, Osteoporosis, Mul... |
ORPHA:3294 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Small hypothenar eminence, Dermatoglyphic ridges abnormal, Small thenar eminence... |
OMIM:211960 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Flexi... |
OMIM:617468 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Pleural effusion, Juvenile rheumatoid arthritis |
ORPHA:85414 |
Severe Hemophilia A |
|
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Intramuscular he... |
ORPHA:169802 |
Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Flexion contracture of toe, Camptodactyly of finger, Gait ataxia |
OMIM:619323 |
Wilson Disease |
|
Abnormality of the hand, Bone pain, Proximal muscle weakness in lower limbs, Arthritis, Joint swe... |
ORPHA:905 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d... |
ORPHA:56 |
Stiff Skin Syndrome |
|
Lipodystrophy, Elbow flexion contracture, Limited shoulder movement, Knee flexion contracture, Ca... |
OMIM:184900 |
Congenital Myopathy 15 |
|
Osteopenia, Waddling gait, Polyhydramnios, Fatty replacement of skeletal muscle, Increased variab... |
OMIM:620161 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Mesomelic leg shortening, ... |
OMIM:249710 |
Arthrogryposis, Impaired Intellectual Development, And Seizures |
|
Camptodactyly of finger, Hip dislocation, Knee dislocation, Arthrogryposis multiplex congenita, A... |
OMIM:615553 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Camptodactyly of finger, Shoulder flexion contracture, Rocker bottom foot, Incre... |
OMIM:619110 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Metaphyseal sclerosis, Delayed skeletal maturation, Flat acet... |
ORPHA:2976 |
Adult-Onset Still Disease |
|
Cartilage destruction, Joint swelling, Arthritis |
ORPHA:829 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Camptodactyly of finger |
ORPHA:1325 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... |
ORPHA:1836 |
Lyme Disease |
|
Arthritis, Joint swelling |
ORPHA:91546 |
Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
Pachydermoperiostosis |
|
Osteomyelitis, Edema, Limitation of joint mobility, Bone pain, Osteoporosis, Small hand, Osteolys... |
ORPHA:2796 |
Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlapping finge... |
OMIM:618436 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Flexion contracture, Hyperextensible hand joints, Dysmetria, Ankle c... |
OMIM:275900 |
Farber Disease |
|
Abnormality of the knee, Skeletal muscle atrophy, Abnormality of the hand, Short toe, Abnormality... |
ORPHA:333 |
Blau Syndrome |
|
Camptodactyly of finger, Synovitis, Tendonitis, Arthritis, Joint swelling, Flexion contracture of... |
OMIM:186580 |
20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly |
ORPHA:444051 |
Sillence Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adduc... |
ORPHA:3168 |
Hyperekplexia 4 |
|
Inguinal hernia, Flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, ... |
OMIM:618011 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Joint stiffnes... |
ORPHA:465508 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... |
ORPHA:93311 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys... |
ORPHA:2631 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ... |
ORPHA:916 |
Whistling Face Syndrome, Recessive Form |
|
Inguinal hernia, Shoulder flexion contracture, Elbow flexion contracture, Ulnar deviation of fing... |
OMIM:277720 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Martsolf Syndrome 2 |
|
Overlapping toe, Camptodactyly of finger, Camptodactyly |
OMIM:619420 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Rocker bottom foot, Polyhydramnios, Camptodactyly, Arthrogryposis multip... |
OMIM:618393 |
Autosomal Spastic Paraplegia Type 18 |
|
Hip contracture, Ankle flexion contracture, Neck joint contracture, Inability to walk, Flexion co... |
ORPHA:209951 |
Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... |
ORPHA:1927 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling |
OMIM:612852 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Keipert Syndrome |
|
Joint laxity, Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad th... |
OMIM:301026 |
Perching Syndrome |
|
Joint contracture, Camptodactyly |
OMIM:617055 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Distal arthrogryposis, Talipes equinovarus, Camptodactyly, Knee flexion contracture |
OMIM:618198 |
Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger |
ORPHA:3180 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Polyhydramnios, Wrist swelling, Limitation of joint mobility, Osteolysis... |
ORPHA:2774 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Torticollis, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Campto... |
OMIM:609128 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Bone pain, Osteolysis, Joint swelling, Abn... |
ORPHA:35687 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Waddling gait, Congenital hip dislocation, Left ventricular hypertrophy, Limited e... |
OMIM:300280 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Radioulnar ... |
ORPHA:2741 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovaru... |
OMIM:614815 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widening, Joint swel... |
OMIM:607944 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, Limit... |
OMIM:121050 |
Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia, Short 2nd toe, Tali... |
ORPHA:1326 |
Mixed Connective Tissue Disease |
|
Myositis, Joint stiffness, Xerostomia, Osteolysis, Arthritis, Joint swelling, Avascular necrosis |
ORPHA:809 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Tarsal synostosis, Camptodactyly o... |
ORPHA:2633 |
Partington Syndrome |
|
Flexion contracture, Camptodactyly |
OMIM:309510 |
Reactive Arthritis |
|
Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Arthritis, Joint swelling |
ORPHA:29207 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cubitus valgus, Down-sloping shoulders, Camptodactyly, Knee flexion contracture |
OMIM:619694 |
Moebius Syndrome |
|
Syndactyly, Brachydactyly, Clinodactyly, Split hand, Congenital fibrosis of extraocular muscles, ... |
OMIM:157900 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Polyhydramnios, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist ... |
OMIM:193700 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Joint swelling, Panniculitis, Lipodystrophy |
OMIM:617099 |
Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Clubbing, Joint swelling, Contractures of the... |
ORPHA:96123 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Congenital Myopathy 12 |
|
Arachnodactyly, Polyhydramnios, Akinesia, Jaw contracture, Camptodactyly, Overlapping fingers, Jo... |
OMIM:612540 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Broad hallux, Craniosynostosis, Accelerated skeletal matur... |
OMIM:175700 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Postaxial hand polydactyly, Pectoral muscle hypopl... |
OMIM:136760 |
Pseudodiastrophic Dysplasia |
|
Rhizomelia, Phalangeal dislocation, Elbow dislocation, Talipes equinovarus, Camptodactyly |
OMIM:264180 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix |
OMIM:245650 |
Catifa Syndrome |
|
Inguinal hernia, Gait disturbance, Camptodactyly |
OMIM:618761 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Broad-based gait, Ataxia, Joint contracture of the hand, Camptodactyly, ... |
OMIM:609033 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Persistent open anterior fontanelle, Inguinal hernia, Arachnodactyly, Facial hypoto... |
OMIM:615539 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Flexion contracture, Elbow flexion contracture, Osteoporosis, Deh... |
OMIM:214150 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Short distal ... |
ORPHA:957 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Limited knee flexion, ... |
OMIM:615065 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee osteoarthritis, Osteopor... |
ORPHA:2848 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion contracture, ... |
OMIM:608799 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Avascular necrosis of the capital femoral epiphysis, Arthrogryposis multiplex congenita, Overlapp... |
OMIM:614262 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteolysis involv... |
ORPHA:88630 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Limitation of joint... |
OMIM:224400 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Broad-based gait, Arachnodactyly, Sandal gap, Inability to walk, Flexion contracture, Upper limb ... |
OMIM:617146 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Spina bifida o... |
OMIM:201000 |
Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Osteomyelitis, Flexion contracture, Osteolytic ... |
ORPHA:90291 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Inguinal hernia, Tarsal synostosis, Multiple pterygia, Cranios... |
OMIM:178110 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Camptodactyly |
OMIM:619751 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Inguinal hernia, Metatarsus adductus, Calcaneovalgus deformity, Elbow flexion co... |
OMIM:616266 |
Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Inability to walk, Flexion contracture, Small hand, Narrow pa... |
OMIM:615547 |
Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... |
OMIM:228520 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Hydrops fetali... |
OMIM:265000 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub... |
ORPHA:2804 |
Atelosteogenesis Type Ii |
|
Micromelia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha... |
ORPHA:56304 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Failure to thrive, Hypoglycemia |
OMIM:614736 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Chikungunya |
|
Joint stiffness, Facial edema, Ankle joint effusion, Osteolysis, Synovitis, Pedal edema, Enthesit... |
ORPHA:324625 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Imagawa-Matsumoto Syndrome |
|
Accelerated skeletal maturation, Large hands, Camptodactyly, Umbilical hernia, Clinodactyly |
OMIM:618786 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the phalanges of the ... |
OMIM:618175 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn... |
ORPHA:435938 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Cogniti... |
ORPHA:369873 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Facial palsy, Tapered finger, Elbow flexion contracture, Talipes equinovarus, Radial deviation of... |
OMIM:272430 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal... |
ORPHA:3201 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Osteoporosis, Camptodactyly, Lymphedema |
OMIM:616006 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Rocker bottom foot, Adducted thumb, Hip dislocation, Elbow flexion contr... |
OMIM:610758 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Knee flexion contracture, Femoral bowing, Tibia... |
OMIM:601559 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Gait ataxia, Gait disturbance, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:264350 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Decreased hip abduction, Camptodactyly of fing... |
OMIM:114300 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Ankle flexion contracture, Abnormal circulating porphyrin ... |
ORPHA:100924 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Ataxia, Inability to walk, Macroglossia, Talipes equinovarus, Camptodactyly, Clinodactyly, Brachy... |
OMIM:616354 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Phalangeal dislocation, Hiatus hernia, Incisional hernia, Osteoarthr... |
ORPHA:287 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemia, Weight loss, Hyperuricemia, Ty... |
ORPHA:199299 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Proximal placement of thumb, Hip dislocation, Congenital foot contractures, Distal ... |
OMIM:314580 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Ankle swelling, Angioedema,... |
ORPHA:3260 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Abnormal dental enamel morphology, Osteomalacia, Recurrent fractures, Joint stif... |
ORPHA:534 |
Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan... |
OMIM:277590 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures |
ORPHA:199296 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Micromelia, Bowing of the legs, Quadriceps m... |
OMIM:255800 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... |
OMIM:207410 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Split-Hand/Foot Malformation 3 |
|
Split hand, Camptodactyly |
OMIM:246560 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, 4-5 toe syndactyly, Humeroradial synostosis... |
OMIM:260660 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Inguinal hernia, Omphalocele, Overlapping toe, Single transverse palmar c... |
ORPHA:254528 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Glycosuria, Lethargy, Failure to thrive |
ORPHA:97362 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hypokalemia, Gait... |
ORPHA:682 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Wide anterior fontanel, Clino... |
OMIM:300963 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos... |
OMIM:248370 |
Acromegaly |
|
Palpebral edema, Macrodactyly, Tapered finger, Osteoarthritis, Joint swelling, Large hands, Deep ... |
ORPHA:963 |
Alg8-Cdg |
|
Brachydactyly, Abnormality of subcutaneous fat tissue, Ataxia, Edema, Hydrops fetalis, Macrogloss... |
ORPHA:79325 |
Somatomammotropinoma |
|
Palpebral edema, Macrodactyly, Tapered finger, Osteoarthritis, Joint swelling, Large hands, Deep ... |
ORPHA:314769 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Osteoporosis, Short foot, Abnormal ... |
ORPHA:3409 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni... |
ORPHA:171876 |
Recombinant Chromosome 8 Syndrome |
|
Clinodactyly of the 5th finger, Joint contracture of the hand, Camptodactyly |
OMIM:179613 |
Blau Syndrome |
|
Camptodactyly of finger, Facial palsy, Limitation of joint mobility, Xerostomia, Synovitis, Joint... |
ORPHA:90340 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Palpebral edema, Single transverse palmar crease, Metatarsus adductus, Talipes equinovarus, Campt... |
OMIM:214110 |
Birk-Landau-Perez Syndrome |
|
Failure to thrive in infancy, Hyperkalemia, Limb ataxia, Choreoathetosis, Difficulty walking, Inc... |
OMIM:617595 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive |
ORPHA:427 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Rocker bottom foot, Camptodactyly, Clinodactyly, Bilateral single transv... |
OMIM:618804 |
Stevenson-Carey Syndrome |
|
Hip dysplasia, Joint contracture of the hand, Camptodactyly |
OMIM:611961 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Edema, Pericardial effusion, Clinodactyly, Cutaneous syndactyly, Talipes equinov... |
OMIM:617822 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Ketotic hypoglycemia, Anorexia, Hyperkalemia, Hypoglycemic seizures, Weight loss, F... |
ORPHA:361 |
Arthrogryposis Multiplex Congenita 5 |
|
Inguinal hernia, Rocker bottom foot, Polyhydramnios, Akinesia, Flexion contracture, Elbow flexion... |
OMIM:618947 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Arachnodactyly, Ataxia, Flexion contracture, Calcaneovalgus deformity, Adducted thumb, Talipes eq... |
ORPHA:562528 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Dpm1-Cdg |
|
Sandal gap, Ataxia, Knee flexion contracture, Muscular dystrophy, Camptodactyly, Limb undergrowth... |
ORPHA:79322 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Inguinal hernia, Arachnodactyly, Wide anterior fontanel, Radioulnar synost... |
OMIM:248700 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndactyly, Short palm... |
OMIM:224690 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Wide cranial sutures, Short fourth metatarsal, Wide anterior fontanel, ... |
OMIM:601390 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Joint contracture of the hand, Camptodactyly |
OMIM:608257 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Syndactyly, Prominent metopic ridge, Ulnar deviation of the wrist, Overlapping... |
OMIM:605039 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo... |
OMIM:231070 |
Cystinosis |
|
Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabetes mellitus, Polydipsia, Failure to... |
ORPHA:213 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Clinodactyly, Single transverse palmar crease, Brachydactyly, Camptodactyly |
OMIM:613604 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ataxia, Abnormality of the hand, Macroglossia, Arthrogryposis-like hand anomaly, Camp... |
ORPHA:369891 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Hypokalemia, Failure to thrive, Anorexia |
OMIM:611590 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Short palm, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Delay... |
OMIM:235510 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Rhizomelia, Single transverse palmar crease, Squared iliac bones, Small hand, Hypopla... |
OMIM:611209 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Ataxia, Tapered finger, Inability to walk, Dysmetria, Camptodactyly, Clinodactyly |
OMIM:619576 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Metaphyseal widening, Split hand, Flat acetabular roof, Flared iliac wing, Umbilical ... |
OMIM:252500 |
Rahman Syndrome |
|
Talipes equinovarus, Camptodactyly, Accelerated skeletal maturation |
OMIM:617537 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemia, Weight loss, Inc... |
ORPHA:95409 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Small hypothenar eminence, Torticollis, Delayed skeletal maturation, Absent phalangeal crease, Sp... |
OMIM:611929 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Broad-based gait, Palpebral edema, Ataxia, Macroglossia, Talipes equinovarus, Camptodactyly, Clin... |
ORPHA:397709 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Genu recurvatum, Arachnodactyly, Craniosynostosis, Met... |
OMIM:182212 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Metatarsus adductus, Delayed skeletal maturation, Prematur... |
OMIM:611962 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Corneal scarring, Increased susceptibility to fractu... |
ORPHA:90354 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Upper eyelid edema, Hip dysplasia, Camptodactyly, Hemihypotrophy... |
ORPHA:412035 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Edema, Talipes equinovarus, Camptodactyly, Ascites, Oligohydramnios |
OMIM:608104 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal,... |
ORPHA:95699 |
Meier-Gorlin Syndrome 2 |
|
Delayed skeletal maturation, Patellar aplasia, Slender long bone, Camptodactyly, Tracheomalacia, ... |
OMIM:613800 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Basilicata-Akhtar Syndrome |
|
Short palm, Single transverse palmar crease, Short foot, Camptodactyly, Adducted thumb |
OMIM:301032 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Mesomelia, Prominent fingertip pads, Clino... |
OMIM:618529 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:614175 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Single transverse palmar crease, Delayed skeletal maturation, Slender long bone, C... |
OMIM:613385 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Flexion contracture, Rocker bottom foot, Camptodactyly |
OMIM:604273 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Braddock-Carey Syndrome 1 |
|
Small hand, Talipes equinovarus, Camptodactyly, Clinodactyly, Enamel hypoplasia |
OMIM:619980 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp... |
ORPHA:94093 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Addison Disease |
|
Hyponatremia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Hyperkalemia, Weight loss, Inc... |
ORPHA:85138 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Micromelia, Camptodactyly |
OMIM:610015 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Sagittal craniosynostosis, Small hand, Camptodactyly, Bilateral single transvers... |
ORPHA:459061 |
Mirage Syndrome |
|
Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased body weight |
OMIM:617053 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Inguinal hernia, Multiple joint contractures, Broad hallux, Single transverse palmar ... |
OMIM:305450 |
East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficul... |
ORPHA:199343 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Obesity, Glucose intolerance, Hypokalemia, Abdominal obesity, Emotion... |
OMIM:219090 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Prominent metopic ridge, Overlapping toe, Single transverse palmar crease, Tapered finger, Short ... |
OMIM:619148 |
Ethylene Glycol Poisoning |
|
Ataxia, Confusion, Hyperkalemia, Euphoria, Addictive alcohol use, Hypocalcemia |
ORPHA:31826 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Neonatal hypogl... |
ORPHA:90791 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level |
OMIM:218030 |
Immunodeficiency 82 With Systemic Inflammation |
|
Arthritis, Osteomalacia, Joint swelling, Osteomyelitis |
OMIM:619381 |
Catel-Manzke Syndrome |
|
Joint dislocation, Joint laxity, Short metacarpal, Inguinal hernia, Short femur, Single transvers... |
OMIM:616145 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Metatarsus adductus, Calcaneovalgus deformity, Camptodactyly, Joint contracture o... |
OMIM:612513 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Osteoporosis, ... |
OMIM:249420 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:57 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Failure to thrive, Hypoglycemia |
ORPHA:90790 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Arachnodactyly, Facial palsy, Polyhydramnios, Delayed closure of the anterior fontan... |
OMIM:300373 |
Alg12-Cdg |
|
Sandal gap, Ulnar deviation of the wrist, Polyhydramnios, Edema, Proximal placement of thumb, Lon... |
ORPHA:79324 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hallux valgus, Camptodactyly of finger, Rocker bottom foot, Elbow flexion contracture, Joint cont... |
OMIM:602782 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Congenital hip dislocation, Short metacarpal, Elbow contr... |
OMIM:617137 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Arachnodactyly, Talipes equinovarus, Camptodactyly |
OMIM:301039 |
Arthrogryposis And Ectodermal Dysplasia |
|
Skeletal muscle atrophy, Abnormal dental enamel morphology, Atypical scarring of skin, Camptodact... |
OMIM:601701 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Ataxia, Joint stiffness, Pericardial effusion, Short toe, Gene... |
OMIM:139210 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Ataxia, Lymphedema, Talipes equinovarus, Camptodactyly, Tracheomalacia, C... |
ORPHA:314679 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Hyper... |
OMIM:227330 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Polydipsia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Obesity, Depression,... |
ORPHA:293987 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalc... |
ORPHA:173 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Edema, Hiatus hernia, Hip dislocation, Camptodactyly, Oligohydramnios |
OMIM:617729 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Overlapping toe, Ataxia, Proximal placement of thumb, Tapered finger, Lymphedema... |
OMIM:616737 |
Meester-Loeys Syndrome |
|
Joint dislocation, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Umbilical herni... |
OMIM:300989 |
Native American Myopathy |
|
Joint laxity, Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber si... |
ORPHA:168572 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Camptodactyly of toe, Arachnodactyly, Broad femoral metaphyses, Camptodactyly |
OMIM:610474 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight los... |
ORPHA:275761 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, Femoral bowing,... |
OMIM:600920 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Palpebral edema, Single transverse palmar crease, Metatarsus... |
OMIM:614866 |
Ollier Disease |
|
Multiple enchondromatosis, Abnormal cartilage morphology |
ORPHA:296 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Flexion contracture, Hernia, Camptodactyly |
ORPHA:314588 |
Sarcoidosis |
|
Scarring, Facial palsy, Joint swelling, Chylothorax, Pleural effusion |
ORPHA:797 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Adrenocortical Carcinoma |
|
Diabetes mellitus, Increased body weight, Weight loss, Irritability, Hypokalemia |
ORPHA:1501 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Partial duplication of thumb phalanx, Partial duplication of the phalanx of hand, ... |
OMIM:616331 |
Glass Syndrome |
|
Inguinal hernia, Broad-based gait, Arachnodactyly, Anterior tibial bowing, Facial hypotonia, Tali... |
OMIM:612313 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Inguinal hernia, Single transverse palmar crease, Polyhydramnios, Deep palmar crease... |
OMIM:247200 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Polyhydramnios, Camptodactyly, Clinodactyly, Spina bifida occulta, Joint hypermobility |
OMIM:617360 |
Galloway-Mowat Syndrome 1 |
|
Ataxia, Hiatus hernia, Talipes equinovarus, Camptodactyly, Hand clenching, Joint contracture of t... |
OMIM:251300 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Absent radius, Preaxial hand polydactyl... |
ORPHA:233 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Failure to thrive |
OMIM:602722 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Ataxia |
OMIM:608885 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Polyhydramnios, Flexion contracture, Tibial bowing, Hypoplastic ... |
ORPHA:96334 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Nablus Mask-Like Facial Syndrome |
|
Sandal gap, Single transverse palmar crease, Craniosynostosis, Tapered finger, Short hallux, Camp... |
OMIM:608156 |
Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Accelerated skeletal maturation, Coxa valga, Long fingers, Flexion cont... |
OMIM:617561 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Rocker bottom foot, Craniosynostosis, Congenital diaphr... |
ORPHA:1272 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Chondrocalcinosis, Hypomagnesemia |
OMIM:154020 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Camptodactyly |
OMIM:614846 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Hyperphospha... |
ORPHA:466650 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia, Failure to thrive, Hyperkalemia |
ORPHA:293978 |
Chromosome 16P13.3 Duplication Syndrome |
|
Inguinal hernia, Facial hypotonia, Rocker bottom foot, Proximal placement of thumb, Tapered finge... |
OMIM:613458 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Broad-based gait, Broad 2nd toe, Palmoplantar hyperkeratosis, Gait ataxia, Large... |
OMIM:280000 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Long fingers, Atypical scarring of skin, Atrophic scars, Bilateral talipes equinovarus, Talipes e... |
OMIM:618343 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Gitelman Syndrome |
|
Salt craving, Ataxia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia,... |
OMIM:263800 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Camptodactyly, Clinodactyly of the 5... |
OMIM:617602 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Delayed skele... |
ORPHA:261323 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Fasting hypoglycemia, Glycosuria,... |
OMIM:227810 |
Familial Pseudohyperkalemia |
|
Hyperkalemia |
ORPHA:90044 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
Infantile Nephropathic Cystinosis |
|
Abnormal blood ion concentration, Glycosuria, Hypokalemia, Cognitive impairment, Hypophosphatemia... |
ORPHA:411629 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Inability to walk, Unsteady... |
ORPHA:3063 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Hemorrhagic Fever-Renal Syndrome |
|
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitat... |
ORPHA:340 |
Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Decreased muscle mass, Abnormality of the hand, Short to... |
ORPHA:171929 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 finger cutaneous syndactyly, Cutaneous syn... |
OMIM:620029 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Failure to thrive, Polydipsia, Decreased circulating renin level |
ORPHA:320 |
H Syndrome |
|
Hallux valgus, Lipodystrophy, Recurrent fractures, Delayed skeletal maturation, Osteolysis, Upper... |
ORPHA:168569 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met... |
OMIM:272950 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Hyperamylasemia |
OMIM:604278 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Septic arthritis |
ORPHA:544482 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Neu-Laxova Syndrome 1 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Polyhydramnios, Long fingers, ... |
OMIM:256520 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Hip dislocation, Hip dysplasia, Talipes equ... |
OMIM:617403 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Hypokalemia, Dysdiadochokinesis, Increased circulating renin level, Hypomag... |
OMIM:612780 |
Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Insulin resistance, Hypermagnesemia, Gout, Glucose intolerance, ... |
ORPHA:358 |
Dpagt1-Cdg |
|
Arachnodactyly, Lipodystrophy, Ataxia, Akinesia, Inability to walk, Flexion contracture, Osteopor... |
ORPHA:86309 |
Fryns Syndrome |
|
Omphalocele, Single transverse palmar crease, Polyhydramnios, Proximal placement of thumb, Rocker... |
OMIM:229850 |
Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Decreased muscle mass, Genu recurvatum, Protrusio acetabuli,... |
OMIM:154700 |
Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly |
OMIM:619123 |
Mercury Poisoning |
|
Hypokalemia, Confusion, Anorexia |
ORPHA:330021 |
Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Craniosynostosis, Postaxial polydactyly, Preaxial p... |
OMIM:614976 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia |
ORPHA:403 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Overlapping toe, Craniosynostosis, Tapered finger, Delayed skeletal matu... |
OMIM:309590 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly |
OMIM:601353 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypophosphatemia, Hypo... |
ORPHA:411634 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Camptodactyly |
ORPHA:363444 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Progressive neurologic deteriorati... |
OMIM:219800 |
Rabson-Mendenhall Syndrome |
|
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... |
ORPHA:769 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad t... |
OMIM:616894 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Absent palmar crease, Camptodactyly |
OMIM:614230 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia, Glycosuria |
OMIM:134600 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Delayed skeletal maturation, Osteoporosis, Camptodactyly |
ORPHA:432 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Broad hallux, 1-2 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger, Small hand, Sh... |
OMIM:301044 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ... |
ORPHA:89938 |
Ayme-Gripp Syndrome |
|
Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closure, Brachydactyly |
OMIM:601088 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Lar... |
ORPHA:500095 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered finger, Lymphedema, Flexio... |
ORPHA:487796 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Congenital hip dislocation, Inability to walk, Hypokalemia, Hypocalcemi... |
OMIM:617913 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynostosis,... |
OMIM:610168 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Hypokalemia, Polydipsia |
ORPHA:369929 |
Schinzel-Giedion Syndrome |
|
Inguinal hernia, Overlapping fingers, Overlapping toe, Wide anterior fontanel, Hypoplastic pubic ... |
ORPHA:798 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Reduced subcutaneous adipose tissue, Overlapping toe, Knee flexion contracture, Hip... |
OMIM:617402 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:613090 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive, Neonatal hypoglycemia |
ORPHA:90794 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Polydipsia |
ORPHA:251274 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Clinodactyly, Camptodactyly |
ORPHA:228426 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Prominent metopic ridge, Mesoaxial foot polydactyly, Overlapping toe, Single transv... |
OMIM:612474 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Polydipsia, Decreased circulating renin level |
ORPHA:231580 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Decreased circulating ... |
ORPHA:3337 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Talipes equinovarus, ... |
OMIM:609192 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypoglycemia, Small for gestational age, Craniosynostosis, Tarsal synostosis, Humer... |
OMIM:201750 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp... |
OMIM:601678 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Uterine prolapse, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynos... |
OMIM:613795 |
Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
Osteootohepatoenteric Syndrome |
|
Hypokalemia, Failure to thrive, Increased serum bile acid concentration, Weight loss |
OMIM:619377 |
Pearson Syndrome |
|
Diabetes mellitus, Ataxia, Small for gestational age, Hypomagnesemia, Dysphagia, Hypophosphatemia... |
ORPHA:699 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypochloremia, Hyp... |
OMIM:241200 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia |
OMIM:611489 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia, Failure to thrive |
OMIM:602522 |
Marburg Hemorrhagic Fever |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aggr... |
ORPHA:99826 |
Lethal Kniest-Like Dysplasia |
|
Abnormal cartilage morphology, Abnormal cartilage matrix |
ORPHA:2347 |
Helix Syndrome |
|
Hypokalemia, Polydipsia, Hypermagnesemia |
OMIM:617671 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Failure to thrive, Hypoalbuminemia |
OMIM:174900 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Irritability, Hypokalemia, Unconjuga... |
ORPHA:90038 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Vipoma |
|
Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss, Hypokalemia |
ORPHA:97282 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Hypokalemia, Recurrent infantile hypoglycemia, Increased ci... |
ORPHA:508 |
Renpenning Syndrome 1 |
|
Clinodactyly of the 5th finger, Joint contracture of the hand, Camptodactyly, Synostosis of the p... |
OMIM:309500 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus adductus, Wide an... |
OMIM:607872 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talip... |
OMIM:200110 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia, Depression |
OMIM:170390 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive, Ataxia |
OMIM:618426 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Clinodactyly, Camptodactyly |
OMIM:619343 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
Scorpion Envenomation |
|
Restlessness, Increased circulating NT-proBNP concentration, Ataxia, Increased circulating creati... |
ORPHA:466677 |
Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Hypokalemia, Glycosuria, Polydipsia, Failure to thrive |
ORPHA:47159 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, B... |
ORPHA:261537 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:90793 |
Mowat-Wilson Syndrome |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Recurrent fractur... |
ORPHA:2152 |
Distal Renal Tubular Acidosis |
|
Hypokalemia, Failure to thrive, Polydipsia |
ORPHA:18 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level |
OMIM:607364 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, B... |
ORPHA:261552 |
Multiple Osteochondromas |
|
Abnormality of the knee, Abnormal cartilage morphology, Abnormal carpal morphology, Femoroacetabu... |
ORPHA:321 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
Nelson Syndrome |
|
Hypokalemia, Type II diabetes mellitus |
ORPHA:199244 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicles, Radial devi... |
OMIM:309800 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353277 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro... |
OMIM:619573 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia, Hypoglycemia |
ORPHA:786 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology, Osteochondrosis |
ORPHA:2396 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Weight loss |
ORPHA:91347 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Hypokalemia, Cognitive impairment |
ORPHA:286 |