| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
| Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Congenital hip dislocation, Delayed skeletal maturation, ... |
ORPHA:168621 |
| Isolated Osteopoikilosis |
|
Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ... |
ORPHA:166119 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Coronal cleft vertebrae, Short long bone, Short 3rd metacarpal,... |
OMIM:118651 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero... |
OMIM:615198 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Shortened QT interval, Primary hyperparathyroidis... |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Shortened QT interval, Primary hyperparathyroidis... |
ORPHA:143 |
| Buschke-Ollendorff Syndrome |
|
Lower limb asymmetry, Joint stiffness, Osteopoikilosis, Flexion contracture, Scoliosis |
OMIM:166700 |
| Osebold-Remondini Syndrome |
|
Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,... |
OMIM:112910 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Limited elbow movement, Abnormal metatarsal morphology, Abnorma... |
OMIM:127300 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Diastrophic Dysplasia |
|
Joint dislocation, Micromelia, Micrognathia, Proximal placement of thumb, Abnormal form of the ve... |
ORPHA:628 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Aarskog-Scott Syndrome |
|
Short palm, Finger syndactyly, Pes planus, Genu recurvatum, Camptodactyly of finger, Talipes, Sho... |
ORPHA:915 |
| Osteomesopyknosis |
|
Low back pain, Increased bone mineral density, Infertility |
OMIM:166450 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Diabetes mellitus, Ectopic ossification, Increased bone mineral density, Abnormality of the verte... |
OMIM:602475 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Delayed skeletal maturation, F... |
OMIM:612447 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Premature ovarian insufficiency, Pedal edema |
ORPHA:75325 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency... |
ORPHA:93315 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb u... |
ORPHA:2204 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Aggressive behavior, 2-3 toe syn... |
ORPHA:313892 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatome... |
OMIM:620076 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... |
OMIM:136300 |
| Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Bone pain, ... |
ORPHA:37748 |
| Gaucher Disease Type 1 |
|
Osteopenia, Anorexia, Osteoarthritis, Bone pain, Pedal edema, Leukopenia, Avascular necrosis, Bil... |
ORPHA:77259 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Micrognathia, Coxa valga, Abn... |
ORPHA:163649 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular ... |
ORPHA:53 |
| Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
| Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Precoc... |
ORPHA:356961 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Micrognathia, Absent radius... |
ORPHA:3320 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Azoospermia, Infertility, Scoliosis, Thoracic h... |
ORPHA:1445 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Microvesi... |
OMIM:610198 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowin... |
OMIM:601559 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Cryptorchidism, Delayed skelet... |
ORPHA:2332 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Gorlin Syndrome |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Arachnodactyly, Cryptorchidism, Plantar pits, He... |
ORPHA:377 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Sandwich appearance of vertebral bod... |
OMIM:259700 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Bone pain, Hyperostosis, A... |
ORPHA:2485 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenomegaly,... |
OMIM:611490 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Short metatarsal, Prominent U wave, Short palm, Clinodactyly of the 5th finger, Pro... |
OMIM:170390 |
| Caudal Regression Syndrome |
|
Maternal diabetes, Joint stiffness, Missing ribs, Cryptorchidism, Impulsivity, Aplasia/Hypoplasia... |
ORPHA:3027 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
| Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage... |
OMIM:619040 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... |
OMIM:606612 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Polyphagia |
OMIM:618406 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... |
OMIM:619217 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Short long... |
ORPHA:1423 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Kyphosis, Hip dislocation, Small hand, Short foot, Talipes equinovarus, Scoliosis,... |
OMIM:300434 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus |
OMIM:618845 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small scrotum, Hypospadias, Rhizomelia, Short femur, Sandal gap, Cryptorchidism, H... |
OMIM:607143 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... |
OMIM:122860 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... |
ORPHA:370010 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Kyphosis... |
ORPHA:3344 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Decreased response to growth hormone stimulation test, Micro... |
ORPHA:763 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Short palm, Thoracic hemivertebrae,... |
OMIM:268310 |
| Andersen-Tawil Syndrome |
|
Micrognathia, Prominent U wave, Abnormal T-wave, Prolonged QTc interval, Polymorphic and polytopi... |
ORPHA:37553 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Anorexia, Abnormal fear-induced behavior, Con... |
ORPHA:3077 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia, Cryptorchidism, Ambiguous genitalia, Thrombocytopenia |
ORPHA:1237 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block... |
ORPHA:398124 |
| Acheiropody |
|
Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of the ulna, Absent radiu... |
OMIM:200500 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... |
ORPHA:66637 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Long pe... |
ORPHA:1988 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemive... |
ORPHA:2916 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Increased bone mineral density, Autoimmune hypoparathyroidism, Depression,... |
ORPHA:36913 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Elbow contracture, Craniosynostosis, Tarsal synostosis, Multip... |
OMIM:178110 |
| Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Talipes equinovalgus, Abnormal foot morphology, Hip d... |
OMIM:605274 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone minera... |
ORPHA:800 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... |
OMIM:620366 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared il... |
OMIM:215045 |
| Hemochromatosis, Type 1 |
|
Arthropathy, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Conges... |
OMIM:235200 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... |
ORPHA:1436 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Sh... |
OMIM:609945 |
| Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... |
ORPHA:77297 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillation, Accelerated sk... |
OMIM:613327 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Werner Syndrome |
|
Increased bone mineral density, Telangiectasia of the skin, Rocker bottom foot, Myocardial infarc... |
ORPHA:902 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Micrognathia, Short tubular bones... |
ORPHA:85184 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Pes planus, Short neck, Micrognathia, Cryptorchidi... |
OMIM:618000 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Cryptorc... |
OMIM:258315 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... |
OMIM:150250 |
| Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality of the vertebra... |
ORPHA:2345 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... |
OMIM:607634 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Hyperactivity, Hypospadias, Sandal gap, Aggressive behavior, Cryptorchi... |
OMIM:300354 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Micrognathia, Cryptorchidism, Hyperinsulinemia, Abnormal pancr... |
ORPHA:2849 |
| Ck Syndrome |
|
Hyperactivity, Hyperlordosis, Micrognathia, Kyphosis, Aggressive behavior, Irritability, Scoliosi... |
OMIM:300831 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ... |
OMIM:305400 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Increased bone mineral density, Decreased response to growth hormone stimu... |
ORPHA:94089 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Talipes calcaneovalgu... |
OMIM:265000 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morphology, Aggressive beh... |
ORPHA:208441 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Prolonged QTc... |
ORPHA:90065 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Scoliosis, Butterfly ve... |
OMIM:122600 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosi... |
ORPHA:530983 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Craniosynostosis, Short neck, Absent thumb, Humeroradial synostosis, Ab... |
OMIM:251230 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Abnormal repetitiv... |
OMIM:617796 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Hip dislocation, Joint h... |
ORPHA:96169 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ... |
ORPHA:2658 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Stiff interphalangeal joints, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogon... |
ORPHA:465508 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Hypospadias, Camptodactyly of finger, T... |
ORPHA:90652 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... |
ORPHA:432 |
| Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr... |
OMIM:305620 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, Sco... |
OMIM:615583 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial... |
ORPHA:96334 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Bone pain, Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, Sclerotic vertebral en... |
ORPHA:289176 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Hyperactivity, Impulsivity, Cryptorchid... |
OMIM:610443 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Fused cervical vertebrae, Abnorma... |
ORPHA:2522 |
| Fragile X Syndrome |
|
Joint laxity, Pes planus, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Scoliosis, Re... |
OMIM:300624 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Microgn... |
OMIM:259720 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... |
OMIM:616300 |
| Omodysplasia 2 |
|
Dyspareunia, Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Anterior wedging of T11, U... |
OMIM:164745 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
| Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... |
ORPHA:1782 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated ske... |
ORPHA:373 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Pes planus, Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, 2-3 toe syndactyly, Depress... |
OMIM:619467 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hypospadias, Hyperactivity, Cryptorchidism, Short metatarsal... |
OMIM:614613 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Short neck, Micrognathia, Postaxial polydactyly, Preaxial pol... |
OMIM:617925 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepatic stea... |
ORPHA:66634 |
| Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Polycythemia, Abnormality of t... |
ORPHA:2905 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
| Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Cryptorchidism, Delayed skeletal maturation, Epispadias... |
OMIM:148050 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Polydipsia, Retrope... |
ORPHA:35687 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Bowing of the... |
ORPHA:1798 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydacty... |
OMIM:263520 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Sclerosis of skull base, Sc... |
OMIM:130720 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Hyperlordosis, Micrognathia, High iliac wing, Aortic valve stenos... |
ORPHA:2780 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, E... |
ORPHA:89936 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Self-... |
ORPHA:3306 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Pes planus, Decreased r... |
OMIM:213980 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic... |
ORPHA:57777 |
| Satoyoshi Syndrome |
|
Abnormality of the knee, Hyperlordosis, Nephrogenic diabetes insipidus, Tapered finger, Abnormal ... |
ORPHA:3130 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult... |
ORPHA:1826 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Absent external genitalia, Missing ribs, Hemiverte... |
OMIM:271520 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Myocardial infarction, Short neck, Micrognathia, Reduced bone mineral density, Hepati... |
ORPHA:99413 |
| Turner Syndrome |
|
Osteopenia, Myocardial infarction, Short neck, Micrognathia, Reduced bone mineral density, Hepati... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Osteopenia, Myocardial infarction, Short neck, Micrognathia, Reduced bone mineral density, Hepati... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Myocardial infarction, Short neck, Micrognathia, Reduced bone mineral density, Hepati... |
ORPHA:99226 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Hypogonadism, Dysphagia... |
OMIM:160900 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Kyp... |
OMIM:109400 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Amelia, Clinodactyly of the 5th finger, Decreased skull ossification,... |
OMIM:601163 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Delayed skeletal maturation, Primary a... |
OMIM:614837 |
| Seckel Syndrome 1 |
|
Abnormal finger flexion crease, Micrognathia, Clinodactyly of the 5th finger, Dislocated radial h... |
OMIM:210600 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... |
ORPHA:3282 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short neck, Missing ribs... |
OMIM:613686 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
| Rett Syndrome |
|
Kyphosis, Short foot, Scoliosis, Bruxism, Abnormal T-wave, Prolonged QTc interval, Stereotypical ... |
OMIM:312750 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteol... |
OMIM:612852 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| 2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavi... |
ORPHA:228402 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Joint contracture |
OMIM:615351 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra... |
OMIM:601005 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... |
OMIM:241410 |
| 19P13.3 Microduplication Syndrome |
|
Hyperactivity, Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Precocious puberty, Long ... |
ORPHA:447980 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o... |
OMIM:119600 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me... |
OMIM:618476 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Absent tibia, Metaphyseal widen... |
OMIM:613091 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cardiomyopathy, Cervical ... |
OMIM:616549 |
| 19P13.12 Microdeletion Syndrome |
|
Short neck, Short palm, Clinodactyly of the 5th finger, Hypothyroidism, Hepatic steatosis, Finger... |
ORPHA:254346 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Abnormal repetitive mannerisms, Accessory sp... |
OMIM:194190 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Congenital hip dislocation, Foot joint contracture, Diabetes mellitus, Proximal pla... |
ORPHA:456312 |
| Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia |
OMIM:109130 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, Flexion contractur... |
OMIM:620029 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthr... |
OMIM:602111 |
| Long Qt Syndrome 8 |
|
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... |
OMIM:618447 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:3109 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Pediatric-Onset Graves Disease |
|
Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Increased circulating T4 con... |
ORPHA:525731 |
| 17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Decreased response to growth hormone stimulation test, Short neck, Microgn... |
ORPHA:529962 |
| Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Anemia, Cortical thickening of... |
OMIM:131300 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ambiguous genitalia, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabul... |
OMIM:617159 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
| Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Brachydactyly, Aplastic clav... |
OMIM:265800 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hyperm... |
ORPHA:508498 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... |
OMIM:619151 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
| Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Short neck, Absent thumb, Short thumb, Sho... |
OMIM:609053 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia... |
ORPHA:239 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity, Joint hypermobility |
OMIM:300143 |
| Gaucher Disease |
|
Osteopenia, Joint dislocation, Osteoarthritis, Bone pain, Avascular necrosis, Hepatomegaly, Incre... |
ORPHA:355 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Diabetes mellitus, Decreased/absent ankle reflexes, Cardiomyopathy, Scoliosis, Dysp... |
ORPHA:1177 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Tricuspid regurgitation, Glandular hypospadias, Talipes equinovarus, Short tibia |
OMIM:620306 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3... |
OMIM:206920 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Micrognathia, Kyphos... |
ORPHA:958 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... |
OMIM:603671 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Aggressive behavior, Attention deficit hyperactivity disorder, Pes cavus, ... |
OMIM:300352 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cryptorchidism, Kyphosis, Spinal canal st... |
ORPHA:1724 |
| Desmosterolosis |
|
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Splenomeg... |
ORPHA:35107 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Kyphoscoliosis, Aggressive behavior, 2-3 toe synd... |
ORPHA:391307 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hyperactivity, Aggressive behavior, Abnormal repetitiv... |
OMIM:600430 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
| Trichothiodystrophy |
|
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... |
ORPHA:33364 |
| Fg Syndrome 3 |
|
Hyperactivity, Broad hallux, Cryptorchidism, Joint contracture, Broad thumb |
OMIM:300406 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... |
OMIM:208500 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Patchy osteosclerosis, Micrognathia, Cryptorchidism, Del... |
ORPHA:2323 |
| Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Joint stiffness, Short neck, Cryptorchidism, Hypoplastic iliac... |
OMIM:139210 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... |
ORPHA:98850 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Nail-biting, Hyperactivity, Tachycardia, Decreased response to growth hormone stim... |
ORPHA:485405 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... |
ORPHA:85293 |
| Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnormal femur morph... |
ORPHA:1328 |
| Gitelman Syndrome |
|
Maternal diabetes, Iron deficiency anemia, Prominent U wave, Abnormal T-wave, Hashimoto thyroidit... |
ORPHA:358 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Calf muscle hypertrophy, Testicular atrophy, Decreased fertility, Dysphagia |
OMIM:313200 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... |
OMIM:276820 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, Hypoplasia of the ulna, Split hand, Bicornuate uterus, Split foot, U... |
OMIM:200980 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Joint stiffness, Aggressive behavior, Splenomegaly, Ovoid thoracolum... |
OMIM:252920 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Hypere... |
OMIM:227330 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
| Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... |
ORPHA:97360 |
| Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... |
ORPHA:232 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... |
OMIM:101200 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Frequent temper tantrums, Scoliosis, Attention d... |
OMIM:620141 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... |
ORPHA:289548 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Bone pain, Ricket... |
OMIM:307800 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Ulnar deviation of the wrist, Elbow contracture, Rh... |
OMIM:618162 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... |
OMIM:203500 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Ankle swelling, Anorexia, Leukocytosis, Central hypothyroidism, Lymphoc... |
ORPHA:514 |
| Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ri... |
OMIM:269150 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Limited mobili... |
OMIM:222300 |
| Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Hyperactivity, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymme... |
OMIM:252900 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Radial head s... |
ORPHA:2634 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Miss... |
OMIM:206900 |
| Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar v... |
OMIM:252930 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Short neck, Mi... |
ORPHA:2879 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Arachnodactyly, Aggressive behavior, Emotional blunting, Fle... |
ORPHA:86309 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Brachydactyly, Hyperactivity, Micrognathia, Aggressive behavior, Cryptorchidism, Fl... |
OMIM:300534 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Delayed skeletal matura... |
ORPHA:77261 |
| Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Hyperactivity, Hypospadias, Micrognathia, Absent thumb, Cryptorchidism, Short thum... |
OMIM:617516 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... |
OMIM:308240 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cardiac arrest, Premature thelarche, Oral-pharyngeal dysphagia, Ventricular tachycardia, Prolonge... |
OMIM:616878 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, F... |
ORPHA:1788 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Ambiguous genitalia, Bowing of the long bon... |
ORPHA:140 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Pes planus, Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior,... |
ORPHA:449291 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Jaundice, Dilated cardiomyopathy, Ventricular t... |
ORPHA:26793 |
| 12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Scoliosis, Clinodact... |
ORPHA:94063 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Split hand, Patellar aplasia, Hand monodactyly, Split fo... |
OMIM:119100 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Short ... |
OMIM:227646 |
| Partial Androgen Insensitivity Syndrome |
|
Fused labia majora, Bifid scrotum, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Myocardial infarction, Micrognathia, Abnormal form of the verteb... |
ORPHA:904 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Brachydactyly, Short metatarsal, Osteolytic defects of the phalange... |
OMIM:600705 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Pes planus, Sandal gap, Short h... |
OMIM:607323 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... |
ORPHA:90796 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Hyperlordosis, Congestive heart failure, Achilles te... |
OMIM:310200 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Abnormality of the spleen, Deviation of the 2nd fing... |
ORPHA:1305 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... |
OMIM:617137 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Epidural hemorrhage, Abnormal pe... |
ORPHA:464329 |
| Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me... |
OMIM:619652 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ventricular tachycardia, Increased circulating renin level, ... |
OMIM:263800 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating gro... |
OMIM:608747 |
| Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Low back pain, Splenomegaly, Acute myelomono... |
ORPHA:86843 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphy... |
ORPHA:785 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Micrognathi... |
OMIM:309520 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Syndactyly, Sacral dimple, Prominent metopic ridge, Ulnar deviation of the wri... |
OMIM:605039 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Increased bone mineral density, Delayed closure of the anterior fontanelle, T... |
OMIM:127000 |
| Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Ambiguous genitalia, female, Ambiguous geni... |
OMIM:602398 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Absent radius, Preaxial hand polydacty... |
ORPHA:233 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Secondar... |
OMIM:615300 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Microretrognathia, Overlapping toe, Rocker bottom foot, Kyphoscoli... |
ORPHA:488642 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Dysphagia, Arrhythmia, Compensated hypothyroidism |
ORPHA:480864 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Talipes, Postax... |
OMIM:619879 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Sp... |
ORPHA:85451 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
| Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Pericarditis, Prolonged QTc interval, Anemia |
ORPHA:231111 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal fear-induced... |
ORPHA:100924 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Euphori... |
ORPHA:31826 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
| Distal Deletion 12Q |
|
Short neck, Micrognathia, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of the 3rd fi... |
ORPHA:96149 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th... |
ORPHA:2470 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Micrognathia, Biliary hy... |
ORPHA:83617 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Late... |
OMIM:164900 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Micrognat... |
OMIM:613458 |
| Trisomy 8P |
|
Sacral dimple, Multiple joint contractures, Short fourth metatarsal, Short fifth metatarsal, Over... |
ORPHA:264450 |
| Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Short neck, Micrognathia, S... |
OMIM:259775 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Bone pain, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteopo... |
ORPHA:98849 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Wormian bones, Radial bowing, Recurrent fractures, Fe... |
OMIM:610915 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilated cardiomy... |
ORPHA:563 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Abnormality of the musculature of the lower limbs, Fused cervical vertebrae, Fatigabl... |
ORPHA:268882 |
| Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Exocrine pancreatic insufficiency, Metaphyseal widening, Thrombo... |
OMIM:617941 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Delayed skeletal maturation, Hypogonadism, Testicula... |
OMIM:618165 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Osteopetrosis |
OMIM:618541 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Kyphoscoliosis, Micrognathia, Cryptorchidism, Short thumb, Osteoporos... |
OMIM:268400 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Pes cavus, Hypogonadotropic hypogonadism,... |
OMIM:308750 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Pes planus, Toe syndactyly, Talipes, Short neck, Missing... |
ORPHA:2308 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ulnar deviation of the 3rd finger, Proximal... |
OMIM:616263 |
| Cousin Syndrome |
|
Short neck, Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous gen... |
OMIM:260660 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Osteoporosis, Neutropenia, Gout... |
OMIM:232220 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Accelerated skeletal maturation, Sh... |
ORPHA:3144 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Dilated cardiomyopathy, Fasting hyperinsulinemia, Hepatic necrosis, Hyperi... |
ORPHA:71212 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th... |
ORPHA:1606 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia |
ORPHA:2151 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Bifid uterus, Micrognathia, Preaxial hand polydactyly, Postaxial h... |
OMIM:236680 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Hip dislocation, Self-injurious behavior, Dysphagia, Podagra, Testicular at... |
OMIM:300322 |
| Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Delayed skeletal maturation, Hyperinsulinemi... |
OMIM:615363 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund... |
ORPHA:75565 |
| Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism |
ORPHA:94090 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Attention deficit hyperactivity disorder, Spina bifida occulta, Butterf... |
OMIM:619227 |
| Aceruloplasminemia |
|
Refractory anemia, Diabetes mellitus, Congestive heart failure, Abnormal pancreas morphology, Hyp... |
ORPHA:48818 |
| Schinzel-Giedion Syndrome |
|
Short neck, Micrognathia, Tibial bowing, Hepatoblastoma, Micropenis, Myeloid leukemia, Streak ova... |
ORPHA:798 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Precocious puberty, Small hand, Hip dysplasia, Scoliosis, Delayed ... |
ORPHA:50 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia... |
ORPHA:93111 |
| Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Abnormal reproductive system morphology, Abnormality of... |
ORPHA:1666 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Jaundice, Cent... |
ORPHA:1667 |
| Distal Duplication 17Q |
|
Joint laxity, Accessory spleen, Hallux valgus, Hyperactivity, Arachnodactyly, Rhizomelia, Overlap... |
ORPHA:3379 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Limited elbow movement, Spinal rigidity, Hyperlordosis, Limited knee flexion/extens... |
ORPHA:268 |
| Jacobsen Syndrome |
|
Hypospadias, Short neck, Micrognathia, Cryptorchidism, Missing ribs, Flexion contracture, Clitora... |
OMIM:147791 |
| Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... |
ORPHA:1827 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Bone pain, Atrioventricul... |
OMIM:259900 |
| Alveolar Echinococcosis |
|
Low back pain, Liver abscess, Abnormal pelvis bone morphology, Cholangitis, Portal hypertension, ... |
ORPHA:284 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, M... |
ORPHA:79456 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Fused cervic... |
OMIM:157800 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... |
OMIM:214800 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Pancytopenia, Testicular atrophy, Cirrhosis |
OMIM:613987 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Howell-Jolly bodies, Jaw claudication, H... |
ORPHA:85443 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
| Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Precocious puberty, Hemivertebrae, Sc... |
OMIM:304050 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Short neck, Micromelia, Postaxial hand polyd... |
OMIM:200995 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotox... |
ORPHA:79102 |
| Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Accelerated skeletal maturation, Ambigu... |
ORPHA:90794 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Pancreatic cys... |
ORPHA:1318 |
| Chops Syndrome |
|
Splenomegaly, Cryptorchidism, Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly |
OMIM:616368 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Anorexia, Abnormal left ventricular function, Leukopenia, Cholec... |
ORPHA:99827 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Back pain, Pancreatic islet cell adenoma, Myocardial infarction, Pancre... |
ORPHA:892 |
| Fryns Syndrome |
|
Bifid scrotum, Microretrognathia, Ectopic pancreatic tissue, Hypospadias, Rocker bottom foot, Pro... |
OMIM:229850 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Anorexia, Thrombocytopenia... |
OMIM:557000 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Cholangitis, Short neck, Micrognathia, Short metatarsal, Hepatic fibrosis, Clinodacty... |
OMIM:266920 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian... |
ORPHA:3464 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatiti... |
ORPHA:449432 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Bradyca... |
ORPHA:330001 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys... |
ORPHA:273 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
| Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, True hermaphroditism, Pancreatic fibrosis, Talipes, M... |
ORPHA:564 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... |
OMIM:270400 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone... |
ORPHA:667 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Bilia... |
OMIM:306955 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia |
OMIM:266810 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognath... |
ORPHA:2753 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormal repetitive mannerisms,... |
ORPHA:353281 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Osteopetrosis, A... |
OMIM:612301 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Thoracolumbar scoliosis, Sagittal craniosynostosis, ... |
OMIM:610199 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Hyperactivity, Broad hallux, Postaxial polydactyly, Hip dysplasia, Aplas... |
ORPHA:457284 |
| Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
| Primary Hyperoxaluria |
|
Recurrent fractures, Heart block, Generalized osteosclerosis, Raynaud phenomenon, Arterial occlus... |
ORPHA:416 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
| Cushing Disease |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Pedal edema, Av... |
ORPHA:96253 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Hypospadias, Recurrent fractures, Kyphoscoliosis, Arachnodactyly, Cryptorchidism, Kypho... |
ORPHA:3063 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Rectovaginal fistula, Short neck |
ORPHA:1780 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Accelerated skeletal maturation, Increased circul... |
OMIM:202010 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Right ventricular failure, Third he... |
ORPHA:1329 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, ... |
ORPHA:444077 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Micrognathia, Limitatio... |
ORPHA:97297 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Micrognathia, Short neck, Absent thumb, Absent radius, Bilateral talipes equi... |
OMIM:614083 |
| Chromosome 17Q12 Deletion Syndrome |
|
Short palm, Long toe, Micrognathia, Cryptorchidism, Long fingers, Pica, Upper limb undergrowth, S... |
OMIM:614527 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Irregular menstruation, 2-3 finger syndactyly, Facial palsy secon... |
OMIM:269500 |
| Oeis Complex |
|
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Bifid uterus, Cryptorchidism... |
OMIM:258040 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Recurrent fractures, Micrognathia, Thrombocytopenia, Leukopenia, Elli... |
ORPHA:2785 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Cardiac arrest, Myocarditis, Hepatitis, Thyroiditis, Lymphocytosis |
ORPHA:139402 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Hypospadias, Micrognathia, Cryptorchidism, Hip dysplasia, Scoli... |
OMIM:616975 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Transient ischemic attack, Osteomalacia, Adrenal calcification, Left ven... |
ORPHA:51608 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Aortic valve stenosis, Pulmonary arterial hypertension, Annular pan... |
ORPHA:210122 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Hyperthyroidism, Tachycardia, Acceler... |
OMIM:609152 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Kinsship Syndrome |
|
Osteopenia, Pes planus, Sacral dimple, Short neck, Micrognathia, Coxa valga, Hip dislocation, Bru... |
OMIM:619297 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
| Liver Disease, Severe Congenital |
|
Micrognathia, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... |
OMIM:619991 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Painless fractures due to injury, Avascular necrosis, Self-mutilation, Orthostatic hypotension du... |
ORPHA:642 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Micrognathia, Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormality of th... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Micrognathia, Abnormal curvature of the vertebral column, Compulsive behaviors, Abnormality of th... |
ORPHA:353277 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Annular panc... |
OMIM:615710 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Prominent metopic ridge, Adrenocortical cytomegaly, Polycythemia, Accelerated skele... |
ORPHA:116 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Legius Syndrome |
|
Hyperactivity, Acute monocytic leukemia, Paroxysmal atrial tachycardia, Ovarian neoplasm, Diaphys... |
ORPHA:137605 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia |
ORPHA:99927 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Arthritis, Iron deficiency anemia, Anoperineal fistula, Lymphocytosis, Thromboc... |
OMIM:301074 |
| Cranioectodermal Dysplasia 1 |
|
Joint laxity, Hepatomegaly, Brachydactyly, Broad toe, Rhizomelia, Short humerus, Sagittal cranios... |
OMIM:218330 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Arachnodactyly, Delayed closure of the anterior fontanelle, Micrognat... |
OMIM:300373 |
| Feingold Syndrome 1 |
|
Accessory spleen, Tricuspid stenosis, Micrognathia, Asplenia, Short thumb, Short toe, 4-5 toe syn... |
OMIM:164280 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Brachydactyly, Tarsal synostosis, Micrognathia, Pancreatic cysts, Abnormality ... |
ORPHA:2750 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Cystocele, Arte... |
OMIM:130050 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
| Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Areflexia of lower limbs, Scoliosis, H... |
OMIM:229300 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Supernumerary nipple, Craniosynostosis, Abnormal reproductive system morphology, Bifi... |
ORPHA:1521 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hypertension... |
OMIM:193300 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Telangiectasia, Hepatosplenomegaly, Polydactyly |
ORPHA:93400 |
| Coffin-Siris Syndrome 1 |
|
Prominent interphalangeal joints, Compulsive behaviors, Clinodactyly of the 5th finger, Prominent... |
OMIM:135900 |
| Ulbright-Hodes Syndrome |
|
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal ... |
ORPHA:3404 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Hypo... |
OMIM:107480 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Vasculitis, Myocarditis, Enlargement of p... |
ORPHA:50918 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... |
ORPHA:70591 |
| Elsahy-Waters Syndrome |
|
Bifid scrotum, Hypospadias, Bilateral cryptorchidism, Shortening of all phalanges of fingers, Cut... |
OMIM:211380 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
| Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
| Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
| Meckel Syndrome, Type 7 |
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Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Postax... |
OMIM:267010 |
| 46,Xy Sex Reversal 7 |
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Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Woodhouse-Sakati Syndrome |
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Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Cardiac-Urogenital Syndrome |
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Accessory spleen, Bifid scrotum, Ambiguous genitalia, Tachycardia, Unilateral cryptorchidism, Cry... |
OMIM:618280 |
| Pancreatic And Cerebellar Agenesis |
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Diabetes mellitus, Joint stiffness, Flexion contracture, Overlapping fingers, Pancreatic hypoplas... |
OMIM:609069 |
| Loeys-Dietz Syndrome |
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Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Microgn... |
ORPHA:60030 |
| Limb-Mammary Syndrome |
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Syndactyly, Absent nipple, Toe syndactyly, 3-4 finger cutaneous syndactyly, Primary amenorrhea, B... |
ORPHA:69085 |
| Dopamine Beta-Hydroxylase Deficiency |
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Abnormal EKG, Orthostatic hypotension, Hyperinsulinemia, Retrograde ejaculation, Syncope, Orthost... |
ORPHA:230 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Hypospadias, Micrognathia, Asplenia, Right-to-left shunt, Bicornuate uterus, Pulmonary arterial h... |
OMIM:265380 |
| Neu-Laxova Syndrome 1 |
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Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Short neck, Bifid uterus, Cryp... |
OMIM:256520 |
| Pontocerebellar Hypoplasia Type 7 |
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Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Fatigable weakness of skeletal muscles, ... |
ORPHA:284339 |
| Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, ... |
ORPHA:731 |
| Townes-Brocks Syndrome 2 |
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Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta |
OMIM:617466 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
| African Trypanosomiasis |
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Hepatomegaly, Abnormal EKG, Abnormality of the endocrine system, Hepatosplenomegaly, Abnormality ... |
ORPHA:3385 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Congenital Aortic Valve Stenosis |
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Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
| Cardiac Diverticulum |
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Abnormal EKG, Mitral stenosis, Angina pectoris, Aplasia/Hypoplasia of the sternum, Tricuspid sten... |
ORPHA:1686 |
| Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Pancreatic Agenesis 2 |
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Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Okamoto Syndrome |
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Prominent metopic ridge, Talipes, Bifid uterus, Splenomegaly, Hip dysplasia, Polydactyly, Scolios... |
ORPHA:2729 |
| Norrie Disease |
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Diabetes mellitus, Cryptorchidism, Irritability, Self-injurious behavior, Uterine rupture, Scolio... |
ORPHA:649 |
| Pallister-Killian Syndrome |
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Congenital hip dislocation, Small scrotum, Edema of the dorsum of feet, Short neck, Micrognathia,... |
OMIM:601803 |
| Exstrophy-Epispadias Complex |
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Bifid scrotum, Bifid uterus, Cryptorchidism, Abnormal joint morphology, Epispadias, Cystocele, Pe... |
ORPHA:322 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Congestive heart failure, Pedal e... |
ORPHA:980 |
| Craniofacial Microsomia 1 |
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Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, ... |
OMIM:164210 |
| Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Hypospadias, Telangiectasia of the skin, Transient... |
ORPHA:286 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... |
OMIM:601992 |
