Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... |
OMIM:112500 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Sugarman Brachydactyly |
|
Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx of finger, Pro... |
OMIM:272150 |
Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phalanx of the 5th finger, ... |
OMIM:112700 |
Brachydactyly, Type A1, C |
|
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... |
OMIM:615072 |
Cleidorhizomelic Syndrome |
|
Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Bilateral sin... |
ORPHA:1453 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Shortening of all middle phalanges of the toes, S... |
ORPHA:85169 |
Brachydactyly, Type A4 |
|
Talipes calcaneovalgus, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd f... |
OMIM:112800 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... |
OMIM:112910 |
Digital Arthropathy-Brachydactyly, Familial |
|
Short middle phalanx of toe, Brachytelomesophalangy, Short distal phalanx of toe, Radial deviatio... |
OMIM:606835 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Abnormal heart morphology, Brachydactyly |
OMIM:233270 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... |
OMIM:118651 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Brachydactyly, Type A1, B |
|
Broad distal hallux, Short 5th metacarpal, Clinodactyly, Cone-shaped epiphyses of the phalanges o... |
OMIM:607004 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... |
OMIM:601376 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... |
OMIM:618435 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly |
OMIM:176305 |
Brachydactyly Type A2 |
|
Short foot, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Type A2 brach... |
ORPHA:93396 |
Brachydactyly, Type A2, With Microcephaly |
|
Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Clinodactyly of the 2nd toe, Thumbs h... |
OMIM:211369 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
Brachydactyly Type C |
|
Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Complete duplication of dis... |
ORPHA:93384 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Short distal phalanx of finger, Broad thumb, Type B brachydactyly |
ORPHA:1471 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Short metacarpal, Mesomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, B... |
OMIM:611263 |
Eiken Syndrome |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Broad foot, Thin bony cortex, Abnor... |
ORPHA:79106 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Atrial septal defect, Brachydacty... |
ORPHA:52056 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Abnormal intestine morphology |
ORPHA:2978 |
Hypophosphatasia, Infantile |
|
Vertebral clefting, Elevated plasma pyrophosphate, Anemia, Metaphyseal cupping, Increased suscept... |
OMIM:241500 |
Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals |
OMIM:269630 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femoral epiphysis, Brachyda... |
OMIM:226900 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Multiple Synostoses Syndrome |
|
Symphalangism affecting the phalanges of the hand, Bilateral single transverse palmar creases, Br... |
ORPHA:3237 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... |
OMIM:609052 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Micrognathia, Hernia of the abdominal wall, Mesomelia, Brachyda... |
ORPHA:1277 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Gastric adenocarcinoma, Fundic gland polyposis, Melena |
OMIM:619182 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Short 3rd toe, Split foot, Split hand, Brachydactyly, Short 2nd finger |
OMIM:190680 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Type A brachydactyly, Abnormal thumb morphology |
ORPHA:1078 |
Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Patellar dislocation, Triangular shaped phalange... |
OMIM:618167 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal symphalangism ... |
OMIM:185700 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... |
OMIM:249700 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Oculoskeletodental Syndrome |
|
Retrognathia, Hyperlordosis, Enamel hypoplasia, Short 5th finger, Thoracic kyphosis, Clinodactyly... |
ORPHA:557003 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Hepatosplenomegaly, Osteolysis, Thrombocytopenia, Splenomegaly, Abnormal fo... |
ORPHA:464329 |
Slc35A2-Cdg |
|
Short tibia, Hip subluxation, Camptodactyly of finger, Hypopigmentation of the skin, Coxa valga, ... |
ORPHA:356961 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Pedal edema, Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic plat... |
ORPHA:166011 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly o... |
ORPHA:2370 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Abnormal mandible morphology, Osteolysis, Multiple cafe-au-lait spots, Difficul... |
ORPHA:249 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short middle phalanx of fi... |
ORPHA:391646 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Brachydac... |
ORPHA:1937 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short femoral neck, Delayed ossification of carpal bones, Inguinal hernia, Brachydactyly, Reduced... |
OMIM:618392 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... |
OMIM:610140 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Osteoporosis, Brachydactyly |
ORPHA:2787 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent forearm, Aplasia of metacarpal bones, S... |
OMIM:200500 |
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Ve... |
OMIM:113000 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Absent distal phalanges, Ty... |
OMIM:120400 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Tetrasomy X |
|
Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:9 |
Hypophosphatasia |
|
Failure to thrive in infancy, Anemia, Recurrent fractures, Hypercalcemia, Abnormal metaphysis mor... |
ORPHA:436 |
Albers-Schönberg Osteopetrosis |
|
Genu valgum, Anemia, Avascular necrosis, Osteomyelitis, Optic atrophy, Recurrent fractures, Joint... |
ORPHA:53 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Mesomelic leg shortening, Micrognathia, Met... |
ORPHA:2756 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Coxa valga, Wrist pain, Delayed skeletal maturation, Hypercalcemia, Abnormality of the vertebral ... |
OMIM:191420 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Vitreoretinopathy, Short neck, Delayed patellar ossification, Enlarged... |
ORPHA:485 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Back pain, Anemia, Osteomyelitis, Optic atrophy from crani... |
ORPHA:210110 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Infantile Myofibromatosis |
|
Irregular hyperpigmentation, Neoplasm of the pancreas, Limitation of joint mobility, Abnormal sac... |
ORPHA:2591 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Broad foot, Delayed eruption of teeth, Short neck, Short palm, Genu recu... |
ORPHA:915 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Abnormal autonomic n... |
OMIM:601559 |
Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Delayed skeletal maturation, Enlarged joints... |
OMIM:156530 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Oculoskeletodental Syndrome |
|
Short femoral neck, Small for gestational age, Thoracic kyphosis, Elbow flexion contracture, Deve... |
OMIM:618440 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Multiple joint contractures, Abnorm... |
OMIM:300244 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Triphalangeal thumb, 11 pairs of ribs, Absent forearm, Micrognathia, Clinodactyly, O... |
OMIM:201170 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Fixed elbow flexion, Micrognathia, Fragmented ... |
ORPHA:166016 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Tarsal-Carpal Coalition Syndrome |
|
Proximal symphalangism of hands, Progressive fusion 2nd-5th pip joints, Short 1st metacarpal, Hum... |
OMIM:186570 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Camptodactyly, Adducted thumb, Tarsal osteovalgus, Brachydactyly, Finger clinodactyly |
OMIM:614257 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Patent foramen ovale, Rhizomelia, Short ribs, Small for gestational age, Hypoplasia ... |
OMIM:607143 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Coxa valga, Advanced ossification of carpal bones, Proximal fibular overg... |
OMIM:251450 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... |
ORPHA:3329 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Abnormal pelvis bone oss... |
ORPHA:1505 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Tip-toe gait, Kyphosis, Calf muscle hypertrophy, Achilles tendon... |
OMIM:606612 |
Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Increased bone mineral density, Facial paralysis, Hepatomegaly, Thrombocytopenia, ... |
OMIM:259700 |
Carpenter Syndrome 1 |
|
Coxa valga, Lateral displacement of patellae, Optic atrophy, Toe syndactyly, Micrognathia, Flared... |
OMIM:201000 |
Esophageal Ring, Lower |
|
Hiatus hernia, Dysphagia |
OMIM:133240 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... |
ORPHA:93315 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Micrognathia, Broad thumb, Brachyd... |
ORPHA:1278 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short metacarpal, Short lon... |
OMIM:614078 |
Gorlin Syndrome |
|
Palmar pits, Vertebral fusion, Mandibular prognathia, Melanocytic nevus, Plantar pits, Vertebral ... |
ORPHA:377 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Dislocated radial head, Talipes equinoval... |
OMIM:605274 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn... |
ORPHA:90650 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, Clinodactyly of the 5th fin... |
OMIM:604381 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Multiple Metaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Micromelia, Abnormality of tibia... |
ORPHA:93430 |
Rhabdoid Tumor |
|
Anemia, Weight loss, Neoplasm of the liver, Hypertension, Internal hemorrhage, Lymphadenopathy, H... |
ORPHA:69077 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Craniosynostosis 3 |
|
Left unicoronal synostosis, Sagittal craniosynostosis, Hallux valgus, Bicoronal synostosis, Singl... |
OMIM:615314 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... |
ORPHA:1106 |
Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Protrusio acetabuli, Brachytelomesophalangy, Abnormality of the wrist, Osteoarthritis ... |
ORPHA:2619 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Metatarsal sy... |
ORPHA:93307 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, 2-3 toe syndactyly, Aplasia of the 1st metacarpal, Unilateral radial aplasia, Tapere... |
ORPHA:476126 |
20Q11.2 Microdeletion Syndrome |
|
Talipes calcaneovalgus, Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly |
ORPHA:444051 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Cockayne Syndrome Type 1 |
|
Foot joint contracture, Abnormality of peripheral nerve conduction, Optic atrophy, Scarring, Diff... |
ORPHA:90321 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Joint hyperflexibi... |
ORPHA:40 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Tip-toe gait, Kyphosis, Calf muscle hypertrophy, Achilles tendon... |
OMIM:607155 |
Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Micrognathia, Abnormal pelvis bone ossification, Brachyda... |
ORPHA:1426 |
Monosomy 13Q34 |
|
Horizontal eyebrow, Common atrium, Micrognathia, Insulin resistance, Postaxial foot polydactyly, ... |
ORPHA:96168 |
Ring Chromosome 21 Syndrome |
|
Small hand, Thoracic hemivertebrae, Clinodactyly, Gait disturbance, Syndactyly, Narrow palm, Mult... |
ORPHA:1445 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short ribs, Short long bone, Micr... |
OMIM:156400 |
Nail Disorder, Nonsyndromic Congenital, 3 |
|
Abnormal hair morphology, Leukonychia, Concave nail |
OMIM:151600 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Foot polydactyly, Micrognathia, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... |
ORPHA:968 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Alopecia, Joint dislocation, Recurrent fractures, Osteomalacia, Hypophos... |
ORPHA:93160 |
Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Heart block, Abnormal distal phalanx morphology of finger, Sh... |
ORPHA:175 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Short metacarpal, Rhizomelia, Brachydactyly, Short metatarsal, Deformed humeral heads,... |
OMIM:601438 |
Cohen Syndrome |
|
Tapered finger, Optic atrophy, Micrognathia, Thick eyebrow, Bull's eye maculopathy, Lumbar hyperl... |
OMIM:216550 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Patellar ... |
OMIM:228900 |
Metaphyseal Acroscyphodysplasia |
|
Short toe, Genu varum, Coxa valga, Cone-shaped metacarpal epiphyses, Micromelia, Abnormal diaphys... |
ORPHA:1240 |
Emery-Nelson Syndrome |
|
Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac... |
ORPHA:1927 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Ulnar deviation of the hand or of fingers of the hand, Inability to walk, Wrist p... |
OMIM:166300 |
Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Coloboma, Abnormal cardiac septum morphology, Clinodactyly, H... |
OMIM:615583 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... |
ORPHA:1856 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
Colorectal Cancer |
|
Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma |
OMIM:114500 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... |
OMIM:609616 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Thin bony cortex, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed ... |
OMIM:259600 |
Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Delayed eruption of teeth, Sparse bone trabeculae, Difficulty walking, Fibular ... |
OMIM:264700 |
Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Bone pain, Short femur, Femoral bowing, Osteosclerosis of ... |
OMIM:602080 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Double outlet right ventricle, Vertebral fusion, Short long bone, Bicuspid aortic ... |
OMIM:618845 |
Kbg Syndrome |
|
Vertebral fusion, Thoracic kyphosis, Synophrys, Thick eyebrow, Single transverse palmar crease, S... |
ORPHA:2332 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Vertebral fusion, Optic atrophy, Butterfly vertebrae, Hyperplasia of the maxi... |
ORPHA:313892 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... |
OMIM:600081 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity |
OMIM:127350 |
Late-Onset Isolated Acth Deficiency |
|
Hypotension, Generalized bone demineralization, Hyperuricemia, Weight loss, Hepatitis, Normocytic... |
ORPHA:199299 |
Cooks Syndrome |
|
Triphalangeal thumb, Broad thumb, Split hand, Brachydactyly |
ORPHA:1487 |
Banki Syndrome |
|
Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach... |
ORPHA:1228 |
Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... |
ORPHA:65759 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal retinal morphology on macular OCT, Recurrent fractures, Enlarged kidney, Hypertension, I... |
ORPHA:251004 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hepatic steatosis, Increased blood urea nitrogen, Failure to thrive, Hypoglycemia, ... |
OMIM:617872 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Small for gestational ... |
OMIM:608154 |
Brachydactyly Type E |
|
Short metacarpal, Upper limb asymmetry, Aplasia/Hypoplasia of the distal phalanx of the hallux, S... |
ORPHA:93387 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Type E brachydactyly, Atrial septal defect |
OMIM:113301 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Delayed skeletal maturation, Osteopenia, Hypercalcemia, Metaphyseal dysplas... |
OMIM:614732 |
Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydac... |
OMIM:193530 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Hypoplasia of the odont... |
OMIM:184250 |
Hypochondroplasia |
|
Short toe, Genu varum, Abnormality of the elbow, Micromelia, Abnormal pelvic girdle bone morpholo... |
ORPHA:429 |
Roifman Syndrome |
|
Short toe, Biconvex vertebral bodies, Irregular vertebral endplates, Hip contracture, Ventricular... |
OMIM:616651 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormal peripheral nervous system morphology, Hypertrophic cardiomyopathy, Osteolysis, Hematemes... |
ORPHA:464321 |
Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Abnormal mitral valve morphology, Brachydactyly |
ORPHA:1919 |
Hypochondroplasia |
|
Genu varum, Short femoral neck, Short long bone, Brachydactyly, Flared metaphysis, Trident hand, ... |
OMIM:146000 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Marburg Hemorrhagic Fever |
|
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S... |
ORPHA:99826 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Anauxetic Dysplasia 2 |
|
Hyperlordosis, Flexion contracture, Coxa valga, Coxa vara, Short femoral neck, Posterior wedging ... |
OMIM:617396 |
Orofaciodigital Syndrome Xviii |
|
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... |
OMIM:617927 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cranial nerve com... |
ORPHA:94080 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Pes cavus, Overlapp... |
ORPHA:457395 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Hypoplastic frontal sinuses, Microgn... |
ORPHA:90652 |
Pseudopseudohypoparathyroidism |
|
Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Ectopic ossification, Short distal ... |
ORPHA:79445 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Flexion contracture, Restrictive cardiomyopathy, Clinodactyly, Camptodactyl... |
ORPHA:88630 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal foot morphology, Dilated cardiomyopathy, Brachydactyly |
ORPHA:168796 |
Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Micrognathia, Short neck, Limb undergrowth, Fibular bowing, Enlarged joi... |
ORPHA:1427 |
Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly |
ORPHA:1795 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment, Abnormal macular morphology, Small for gestat... |
ORPHA:90050 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Williams Syndrome |
|
Sudden cardiac death, Abnormal circulating lipid concentration, Hallux valgus, Abnormal cardiac s... |
ORPHA:904 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Metaphyseal irregularity, Genu valgum, Thin bony cortex, Generalized bone demineraliz... |
OMIM:600785 |
Acro-Renal-Ocular Syndrome |
|
Coloboma, Toe syndactyly, Short distal phalanx of the thumb, Short hallux, Iris coloboma, Optic d... |
ORPHA:959 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Talipes equin... |
OMIM:272460 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Triphalangeal thumb, Toe syndactyly, Absent middle phalanx of 5th finger, Bilateral triphalangeal... |
OMIM:124480 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Ventricular hypertrophy, Shoulder dislocation, Camptodactyly of finger, ... |
OMIM:143095 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... |
OMIM:190351 |
Mesomelia-Synostoses Syndrome |
|
Genu valgum, Abnormality of the knee, Abnormal foot morphology, Abnormality of the humerus, Synos... |
ORPHA:2496 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Mandibular prognathia, Patellar dislocation, Kyphosis, Clinodactyly of the 5th ... |
ORPHA:2916 |
Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Rhizomelia, Kyphosis, Ab... |
ORPHA:3098 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Small hand, Brachydactyly |
OMIM:618618 |
Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn... |
ORPHA:3344 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... |
OMIM:171480 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Abnormal cranial nerve morphology, Abnormal sacrum morphology, Abnorma... |
ORPHA:2345 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Genu recurvatum, Dentinoge... |
OMIM:184260 |
Thrombocytopenia-Absent Radius Syndrome |
|
Coxa valga, Patellar dislocation, Abnormal cardiac septum morphology, Micrognathia, Hip dislocati... |
ORPHA:3320 |
Roifman Syndrome |
|
Biconvex vertebral bodies, Short toe, Hip contracture, Delayed proximal femoral epiphyseal ossifi... |
ORPHA:353298 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Elbow ... |
OMIM:305620 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short ribs, Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydacty... |
OMIM:617405 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Flexion contracture, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, ... |
ORPHA:96334 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... |
OMIM:620135 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Arthrogryposis multiplex... |
OMIM:178110 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Short neck, Knee dislocation,... |
OMIM:618000 |
Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Brachydactyly, Failure to thrive, Hyp... |
OMIM:234250 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Absent forearm, Hand monodactyly, Absent tibia, Split foot, Short hallux, Split... |
OMIM:119100 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
Cohen Syndrome |
|
Tapered finger, Optic atrophy, Micrognathia, Iris coloboma, Abnormal eyelash morphology, Thick ey... |
ORPHA:193 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Restrictive cardiomyopathy, Upper limb undergrowth, Micrognathia, Slender l... |
ORPHA:369837 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Delayed eruption of teeth, Sparse bone trabeculae, Difficulty walking, Delayed ... |
ORPHA:289157 |
Keipert Syndrome |
|
Clinodactyly, Camptodactyly, Broad hallux, Broad thumb, Brachydactyly, Broad distal phalanx of fi... |
OMIM:301026 |
Muenke Syndrome |
|
Short middle phalanx of toe, Capitate-hamate fusion, Coronal craniosynostosis, Thimble-shaped mid... |
OMIM:602849 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Patellar disloc... |
OMIM:274000 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Micrognathia, Hip disloc... |
OMIM:268305 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Sho... |
ORPHA:1515 |
Acrocephalopolydactyly |
|
Short long bone, Hepatosplenomegaly, Limb undergrowth, Brachydactyly, Genu recurvatum |
ORPHA:221054 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa va... |
OMIM:608940 |
Atelosteogenesis, Type Iii |
|
Horizontal sacrum, Rhizomelia, Micrognathia, Radial bowing, Cervical kyphosis, Flat acetabular ro... |
OMIM:108721 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Brachydactyly, Abnormality of fe... |
ORPHA:969 |
Mastocytosis |
|
Hypotension, Splenomegaly, Abnormality of skin pigmentation, Recurrent fractures, Mastocytosis, A... |
ORPHA:98292 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Delayed cranial suture closure, Hyperlordosis, Mandibular prognathia, Cone-shaped epiphysis, Abno... |
ORPHA:2511 |
Myhre Syndrome |
|
2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Overlapping toe, Short neck, Radial devi... |
OMIM:139210 |
Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Micrognathia, Dislocated radial head, Short neck, Radial deviatio... |
OMIM:268310 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:113400 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia, Hepatomegaly |
ORPHA:2123 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... |
OMIM:609441 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Micromelia, Oligo... |
OMIM:251230 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Abnormal hand morphology, Short 5th metacarpal, Bicuspid aortic valve, Short digit, Clinodactyly ... |
ORPHA:228190 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Micrognathia, Abnormal optic disc morphology, Tibial deviation of the 2nd toe, Sho... |
ORPHA:363417 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Hyperlordosis, Broad foot, Hyperinsulinemia, Kyphosis, Keloids, Type II diabetes melli... |
ORPHA:3085 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Hypoplastic facial bones, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of v... |
OMIM:223800 |
Cinca Syndrome |
|
Anemia, Delayed closure of the anterior fontanelle, Joint dislocation, Pseudopapilledema, Abnorma... |
ORPHA:1451 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Optic atrophy, Toe syndactyly, Micrognathia, Taurodontia, Short hallux, ... |
ORPHA:2710 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Absent thumb, Decreased body weight, Ventricular septal defect, Short 1st m... |
OMIM:609053 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Retrognathia, Synophrys, Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Dow... |
ORPHA:1390 |
Pycnodysostosis |
|
Delayed cranial suture closure, Micrognathia, Increased bone mineral density, Hepatosplenomegaly,... |
ORPHA:763 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Avascular necrosis, Mandibular prognathia, Kyphosis, Delayed eruption of... |
ORPHA:137834 |
Frontonasal Dysplasia 1 |
|
Coloboma, Hypoplastic frontal sinuses, Joint contracture of the hand, Widow's peak, Clinodactyly,... |
OMIM:136760 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Failure to thri... |
OMIM:613845 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Melanocytic nevus, Optic atrophy, Delayed eruption of teeth, Epiphyseal ... |
OMIM:101800 |
Koolen-De Vries Syndrome |
|
Fair hair, Iris hypopigmentation, Hip dislocation, Positional foot deformity, Slender finger, Pro... |
OMIM:610443 |
Acute Adrenal Insufficiency |
|
Hypotension, Hyperuricemia, Hypovolemia, Weight loss, Normocytic anemia, Sparse axillary hair, Hy... |
ORPHA:95409 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short 5th metacarpal, Short middle phalanx of the 5th finger, Osteoporosis of vertebrae, Short mi... |
OMIM:156510 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Failure to thrive, Delayed skeletal maturation, Cholestasis, Hepatomegaly, Hypocalcemia... |
ORPHA:172 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Short stepped shuffling gait, Limitatio... |
OMIM:151200 |
Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Mandibular prognathia, Type II diabetes mell... |
ORPHA:1133 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Broad foot, Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Delayed skel... |
OMIM:300232 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Short metacarpal, Delayed eruption of ... |
OMIM:612462 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Anemia, Hallux valgus, Ectopic ossification in ligament tissue, Spinal rigidity, Clinod... |
ORPHA:337 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Elevated circulating creatine kinase concentra... |
ORPHA:99827 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Rod-cone dystrophy, Abnormality of the liver, Shortening... |
ORPHA:79320 |
Atelosteogenesis Type Iii |
|
Short tibia, Hand clenching, Short tubular bones of the hand, Patellar dislocation, Vertebral hyp... |
ORPHA:56305 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Multiple joint contractures, Micrognathia, Supraventricular arrhythmia, Neopla... |
ORPHA:2959 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
2-3 toe syndactyly, Finger joint hypermobility, Butterfly vertebrae, Limited elbow extension, Sca... |
OMIM:618870 |
Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Split hand,... |
ORPHA:1406 |
Myopathy, Tubular Aggregate, 2 |
|
Falls, Areflexia of lower limbs, Spinal rigidity, Elevated circulating creatine kinase concentrat... |
OMIM:615883 |
Larsen Syndrome |
|
Spatulate thumbs, Hip dislocation, Tracheomalacia, Elbow dislocation, Spina bifida occulta, Talip... |
OMIM:150250 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Abnormal cardiac septum morphology, Micrognathia, Brachydactyly, Short middle phalanx of finger, ... |
OMIM:612626 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Brachydactyly, Type E2 |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:613382 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Addison Disease |
|
Hypotension, Thymoma, Generalized bone demineralization, Hyperuricemia, Weight loss, Normocytic a... |
ORPHA:85138 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Alopecia, Anemia, Osteomyelitis, Weight loss, Cellulitis, Hepatitis, Arthritis, A... |
ORPHA:47 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Micrognathia, Synophrys, Supernumerary nipple, Recurrent sinusitis, Overlapping toe, Short neck, ... |
OMIM:213980 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Marinesco-Sjögren Syndrome |
|
Metatarsus valgus, Abnormal circulating creatine kinase concentration, Coxa valga, Avascular necr... |
ORPHA:559 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short phalanx of finger, Genu valgum, Coxa valga, Epiphyseal dysplasia, Brachydactyly |
OMIM:132450 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Metaphyseal striations, Bone spicule p... |
OMIM:618889 |
Jeune Syndrome |
|
Toe syndactyly, Micromelia, Abnormal pelvic girdle bone morphology, Postaxial foot polydactyly, B... |
ORPHA:474 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Short metacarpal, Brachydactyly, Short metatarsal, Osteoporosis |
OMIM:612463 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, 2-3 toe syndactyly, Short 5th finger, Truncus arteriosus, Coloboma... |
ORPHA:508498 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Hip dislocation, Clinodactyly of the 5th finger, Long eyelashes, Joint laxity, Syndac... |
OMIM:619451 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hip subluxation, Optic atrophy, Micrognathia, Increased bone mineral density, Hepatosplenomegaly,... |
OMIM:259720 |
Aminopterin Syndrome Sine Aminopterin |
|
Decreased body weight, Joint contracture of the hand, Frontal upsweep of hair, Micrognathia, Clin... |
OMIM:600325 |
Drug-Induced Lupus Erythematosus |
|
Anemia, Petechiae, Pericardial effusion, Elevated circulating creatine kinase concentration, Peri... |
ORPHA:231111 |
Frontometaphyseal Dysplasia |
|
Short diaphyses, Short phalanx of finger, Camptodactyly of finger, Wrist flexion contracture, Mic... |
ORPHA:1826 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, D... |
OMIM:612526 |
Serrated Polyposis Syndrome |
|
Gastric diverticulum, Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neopla... |
ORPHA:157798 |
Cornelia De Lange Syndrome 2 |
|
Small hand, Limited elbow movement, Micrognathia, Synophrys, Clinodactyly, Long eyelashes, Thick ... |
OMIM:300590 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Abnormal d... |
ORPHA:3409 |
Duane Retraction Syndrome |
|
Patchy hypopigmentation of hair, Micrognathia, Camptodactyly, Spina bifida occulta, Hypoplastic i... |
ORPHA:233 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Hepatocellular Carcinoma |
|
Hypotension, Pedal edema, Hypoglycemia, Hepatomegaly, Hyponatremia, Thrombocytopenia, Hemobilia, ... |
ORPHA:88673 |
Camurati-Engelmann Disease |
|
Coxa valga, Optic atrophy, Delayed eruption of teeth, Cachexia, Cortical thickening of long bone ... |
ORPHA:1328 |
Sillence Syndrome |
|
Bulbous tips of toes, Large iliac wing, Large tarsal bones, Flat acetabular roof, Camptodactyly, ... |
ORPHA:3168 |
Leri Pleonosteosis |
|
Camptodactyly of finger, Abnormal finger morphology, Abnormal metacarpal morphology, Abnormally s... |
ORPHA:2900 |
Hyperparathyroidism, Neonatal Severe |
|
Metaphyseal irregularity, Anemia, Recurrent fractures, Calcinosis, Hypophosphatemia, Failure to t... |
OMIM:239200 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Micr... |
OMIM:609945 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Sacral dimple, Camptodactyly of finger, Short toe, Dental malocclusion, Melanocytic nevus, Hallux... |
ORPHA:1327 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Vertebral ... |
ORPHA:96169 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Progressive Osseous Heteroplasia |
|
Ectopic ossification in muscle tissue, Brachydactyly |
ORPHA:2762 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Coloboma, Cone/cone-rod dystrophy, Retinal atrophy, Ovoid vertebral bodi... |
ORPHA:85167 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Flexion contracture... |
OMIM:609260 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Anemia, Hypokalemia, Cachexia, Clubbing of fingers, Clubbing, Cataract, Hypomagnesemia,... |
OMIM:175500 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Hypocalcemic tetany, Small hand, Calvarial osteosclerosis, Stenos... |
ORPHA:93324 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Abnormality of iron homeostasis, Hepatocellular carcinoma, Cholangiocarcinoma, Hepatomegaly, Leth... |
ORPHA:465508 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... |
OMIM:618469 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
Vitamin D-Dependent Rickets, Type 3 |
|
Genu varum, Metaphyseal cupping, Hypophosphatemia, Bowing of the legs, Flared metaphysis, Osteope... |
OMIM:619073 |
Schaaf-Yang Syndrome |
|
Retrognathia, Flexion contracture, Tapered finger, Short foot, Kyphosis, Small hand, Inability to... |
OMIM:615547 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Broad foot, Short phalanx of finger, Micrognathia, Caudal interpedicular narrowing, ... |
ORPHA:439822 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Coxa vara, Short metacarpal, Rhizomelia, Brachydactyly, Deviation of finger, Deforme... |
ORPHA:2831 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Type II diabetes mellitus, Abnormal sacrum morp... |
ORPHA:1436 |
Spondylometaphyseal Dysplasia, Axial |
|
Rod-cone dystrophy, Rhizomelia, Coxa vara, Short femoral neck, Optic atrophy, Retinal degeneratio... |
OMIM:602271 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Micromelia, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Knee flexion contracture, Telangiectasia, Upper limb undergrowth, Small hand, Optic atrophy, Reti... |
OMIM:608799 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Retinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters... |
ORPHA:71213 |
Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... |
OMIM:186500 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hypopigmentation of the skin, Abnormal foot morphology, Fair hair, Cong... |
OMIM:269920 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Joint dislocation, Hernia, Abnormal finger morphology, Abnormal metacarpal morphology, ... |
ORPHA:3051 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbow dislocation, Short ... |
OMIM:108720 |
Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
Anauxetic Dysplasia 1 |
|
Atlantoaxial dislocation, Elbow flexion contracture, Short neck, Limited elbow extension, Short p... |
OMIM:607095 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Lujo Hemorrhagic Fever |
|
Hypotension, Leukopenia, Stiff neck, Fulminant hepatitis, Purpura, Subconjunctival hemorrhage, Ly... |
ORPHA:319213 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Agitation |
OMIM:619970 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Abruzzo-Erickson Syndrome |
|
Short toe, Coloboma, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Atrial sep... |
ORPHA:921 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... |
OMIM:614613 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Syndactyly, Prolonged QT interval, Hypoglycemia,... |
OMIM:601005 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Palpitations,... |
OMIM:170390 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Bowing of the legs, Lower limb undergrowth, Brachydactyly |
OMIM:612847 |
Osteolysis Syndrome, Recessive |
|
Knee flexion contracture, Abnormal foot morphology, Elbow flexion contracture, Metacarpal osteoly... |
OMIM:259610 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Erythrokeratodermia Variabilis |
|
Alopecia, Irregular hyperpigmentation, Tapered finger, Weight loss, Diabetes mellitus, Cataract, ... |
ORPHA:317 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Short foot, Small hand, Micrognathia, Clinodactyly of the 5th finger, Thick eyebrow, Bilateral si... |
ORPHA:444002 |
Hypophosphatemic Rickets |
|
Osteomalacia, Abnormal lower limb bone morphology, Enthesitis, Hypophosphatemia, Craniofacial asy... |
ORPHA:437 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Decreased body weight, Shock, Palpitations, Capillary leak, Hematemesis, Thrombocyto... |
ORPHA:340 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Malar prominence, Hepatocellular carcinoma, Hepatosplenomegaly, ... |
ORPHA:231226 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
Multiple Myeloma |
|
Anemia, Weight loss, Vertebral compression fracture, Lymphadenopathy, Hypercalcemia, Osteopenia, ... |
ORPHA:29073 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia, Bone pain |
ORPHA:55881 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... |
ORPHA:79345 |
Stickler Syndrome Type 1 |
|
Mitral valve prolapse, Hypoplasia of the maxilla, Cataract, Joint hyperflexibility, Platyspondyly... |
ORPHA:90653 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
Alg8-Cdg |
|
Anemia, Retinopathy, Optic atrophy, Small for gestational age, Abnormality of subcutaneous fat ti... |
ORPHA:79325 |
Coffin-Lowry Syndrome |
|
Tapered finger, Optic atrophy, Delayed eruption of teeth, Delayed skeletal maturation, Pseudoepip... |
ORPHA:192 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the thymus, Weight loss, Neuroendocrine neoplasm, Carcinoid tumor, Pancreatic islet c... |
ORPHA:97289 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Cardiac arrest, Micrognathia, Metatarsus add... |
OMIM:212720 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Broad foot, Toe syndactyly, Supernumerary nipple, Hepatoblastoma, Hypogl... |
ORPHA:373 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia, Bone cyst |
ORPHA:2668 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Delayed eruption of teeth, Supernumerary nipple, Spina bifida occulta, O... |
ORPHA:464 |
15Q24 Microdeletion Syndrome |
|
High anterior hairline, Hernia, Small hand, Kyphosis, Coloboma, Small for gestational age, Broad ... |
ORPHA:94065 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Vertebral fusion, Mandibular prognathia, Short 4th metacarpal, Plantar ... |
OMIM:109400 |
Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Alopecia, Hallux valgus, Small cervical vertebral bodies, Short 1st metacarpa... |
OMIM:135100 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis bone, Abnormal vertebr... |
ORPHA:66637 |
Codas Syndrome |
|
Ventricular septal defect, Short metacarpal, Extrahepatic biliary duct atresia, Delayed eruption ... |
ORPHA:1458 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Delayed closure of the anterior fontanelle, Short foot, Calvarial osteosclerosis, Small h... |
OMIM:244460 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Vertebral segmentation defect, Micrognathia, Hip dysp... |
ORPHA:1988 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Flexion contracture, Paresis of extensor muscles of the big toe, Optic atrophy, Areflexia of lowe... |
ORPHA:99947 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Lethargy, Hypercalcemia, Weight loss |
OMIM:143880 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short long bone, Short ribs, Enlarged kidney, Absen... |
OMIM:613091 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Erlenmeyer flask deformity of the femurs, Optic atrophy, Long eyelashes, Ataxia, Sclero... |
OMIM:618476 |
Chst3-Related Skeletal Dysplasia |
|
Sparse eyebrow, Intervertebral space narrowing, Genu valgum, Flexion contracture, Rhizomelia, Sho... |
ORPHA:263463 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Malar prominence, Hepatocellular carcinoma, Hepatosplenomegaly, ... |
ORPHA:231214 |
Specific Granule Deficiency 2 |
|
Anemia, Absent neutrophil specific granules, Failure to thrive, Hirsutism, Osteopenia, Sandal gap... |
OMIM:617475 |
Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Coloboma, Toe syndactyly, Micrognathia, Synophrys, Iris ... |
ORPHA:251014 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Hypocalcemic tetany, Hyperphosphatemia, Enamel hypoplasia, Short metacarpal, Delayed e... |
OMIM:103580 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... |
OMIM:617102 |
Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Optic atrophy, Hepatosplenomegaly, Limb undergrowth, Hirsutism, Abnormal... |
ORPHA:354 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Micrognathia, Atlantoaxial dislocation, Flared iliac wing, Camptodac... |
OMIM:252500 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Short phalanx of finger, Small hand, Pericardial effusion, Clinodactyly, Broad finger, Brachydactyly |
OMIM:614684 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Lumbar scoliosis, Optic atrophy, Micrognathia, Macular atrophy, Microcornea, Catarac... |
OMIM:616171 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Prominent interdigital folds, Short first metatarsal, Short 1st metacarpal, Short distal phalanx ... |
OMIM:601957 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Tapered finger, Micrognathia, Keratoconjunctivitis sicca, Hip dislocation, H... |
OMIM:616007 |
Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasi... |
OMIM:227270 |
Axial Spondylometaphyseal Dysplasia |
|
Peripheral retinal degeneration, Optic atrophy, Flattened femoral head, Aplasia/Hypoplasia of the... |
ORPHA:168549 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
Distal Monosomy 17Q |
|
Aplasia/Hypoplasia of the thumb, Melanocytic nevus, Small hand, Abnormal cardiac septum morpholog... |
ORPHA:1597 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Hip dislocation, Short neck, Enlarged joints, Flattened, squared-off e... |
OMIM:156550 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Mandibular prognathia, Synophrys, Abnormal forearm mo... |
OMIM:182290 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Finger syndactyly, Widow's peak, Hand polydactyly, Clinodactyly of the 5... |
ORPHA:1520 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Elb... |
ORPHA:56304 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Cardiomyopathy, Tip-toe gait, Diffuse hepatic steatosis, Left ventricul... |
ORPHA:746 |
Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Micrognathia, Tetraphocom... |
OMIM:215140 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Iris colob... |
OMIM:607323 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short long bone, Short ribs, Coarse metaphyseal trabecularization, Limb undergrowth, Brachydactyl... |
OMIM:618961 |
Acrodysostosis |
|
Short toe, Mandibular prognathia, Melanocytic nevus, Short metacarpal, Delayed eruption of teeth,... |
ORPHA:950 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Brachydactyly, Type E1 |
|
Short metacarpal, Brachydactyly, Short clavicles, Short metatarsal, Type E brachydactyly |
OMIM:113300 |
Dermatoosteolysis, Kirghizian Type |
|
Abnormal foot morphology, Abnormality of the wrist, Osteolysis, Abnormal diaphysis morphology, Ab... |
ORPHA:1657 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Inability to walk, Delayed eruption of teeth, Clinodactyly, Camptodactyly, Ataxia, Hypertrichosis... |
OMIM:616354 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Micro... |
OMIM:157900 |
Hajdu-Cheney Syndrome |
|
Abnormal mandible morphology, Patellar dislocation, Micrognathia, Synophrys, Osteolysis, Iris col... |
ORPHA:955 |
3C Syndrome |
|
Atrioventricular canal defect, Optic atrophy, Micrognathia, Iris coloboma, Short neck, Ventricula... |
ORPHA:7 |
Sponastrime Dysplasia |
|
Hip subluxation, Broad foot, Microcoria, Flat capital femoral epiphysis, Hip dislocation, Ivory e... |
ORPHA:93357 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Delayed eruption of teeth, Micrognathia, Palmoplantar hyperkerato... |
OMIM:601812 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Abnormal autonomic nervous system physiology, Cardiomyopathy |
ORPHA:85447 |
Opsismodysplasia |
|
Tapered finger, Hypoplastic pubic bone, Abnormally ossified vertebrae, Hypoplastic ischia, Hypopl... |
ORPHA:2746 |
Prune1-Related Neurological Syndrome |
|
Retinopathy, Inability to walk, Optic atrophy, Micrognathia, Elevated circulating creatine kinase... |
ORPHA:544469 |
Warburg Micro Syndrome 1 |
|
Optic atrophy, Micrognathia, Developmental cataract, Joint hypermobility, Overlapping toe, Failur... |
OMIM:600118 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Hypercalcemia |
ORPHA:33111 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Short 4th metacarpal, Delayed eruption of teeth, Increased bone mineral dens... |
ORPHA:79443 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Positive regitine blocki... |
ORPHA:276621 |
Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Micrognathia, Acetabular dysplasia, Short neck, Low... |
OMIM:616549 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Lumbar hyperlordosis, Osteochondritis dissecans, Accelerated skeletal maturat... |
OMIM:165800 |
Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Micrognathia, Hypoplastic inferior ilia, Spina bifida ... |
ORPHA:1452 |
Oncogenic Osteomalacia |
|
Increased susceptibility to fractures, Abnormal foot morphology, Abnormality of the tarsal bones,... |
ORPHA:352540 |
Occipital Horn Syndrome |
|
Delayed cranial suture closure, Coxa valga, Large iliac wing, Scarring, Hip dislocation, Abnormal... |
ORPHA:198 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Rhizomelia, Short long bone, Short ribs, Flat acetabular roof, Microretrognathia, Hy... |
OMIM:616300 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Short 4th metacarpal, Delayed eruption of teeth, Increased bone mineral dens... |
ORPHA:79444 |
Cofs Syndrome |
|
Camptodactyly of finger, Optic atrophy, Micrognathia, Abnormality of retinal pigmentation, Catara... |
ORPHA:1466 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Hepatic fibrosis, Ventricular septal defect, Short ribs, Short long bone, Retinal de... |
OMIM:615630 |
Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Mandibular prognathia, Premature graying of hair, Cutaneous finger synda... |
OMIM:148820 |
Testicular Regression Syndrome |
|
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Metaphyseal irregularity, Genu valgum, Genu varum, Short foot, Coxa vara, ... |
OMIM:250420 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cafe-au-lait spot, Cerebral hemorrhage, Hypertensive retinopathy... |
OMIM:171420 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Generalized osteoporosis, Hypercalcemia, Osteopenia, Chondrocalcinosis |
ORPHA:99879 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Biconcave vertebral bodies, Ventricular septal defect, Kyphosis, Keloids, Bicus... |
OMIM:130720 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Coronary artery stenosis, Hallux valgus, Premature graying of hair... |
OMIM:194050 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Narrow pelvis bone, Truncal obesity, Delayed skeletal maturation, Limited elbow extension, Pseudo... |
OMIM:210720 |
Temtamy Syndrome |
|
Short toe, Genu varum, Micrognathia, Clinodactyly of the 5th finger, Iris coloboma, Joint hyperfl... |
ORPHA:1777 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteolysis, Iris coloboma, Hirsutism, Papilledema, Abnormal form of the vertebral bodies, Double ... |
ORPHA:371428 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Osteopenia |
OMIM:617343 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Micrognathia, Malar prominence, Short neck, Ab... |
ORPHA:2522 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Hip dysplasia, Short distal phalanx of finger, Brachydactyly |
ORPHA:1858 |
Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... |
ORPHA:93356 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn... |
ORPHA:2064 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Joint hypermobility, Increased blood urea nitrogen, Brachydactyly, Orthost... |
OMIM:223360 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Flexion contracture, Lipoatrophy, Abnormality of skin p... |
ORPHA:1979 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radi... |
OMIM:617604 |
Mosaic Trisomy 20 |
|
Retrognathia, Vertebral fusion, Ventricular septal defect, Abnormal mitral valve morphology, Kyph... |
ORPHA:1724 |
Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Brachydactyly, Sh... |
OMIM:600705 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Hip dislocation, Biliary tract abnormality, Metatarsus adductus, Short hallux, Iris... |
OMIM:194190 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Bone m... |
OMIM:231095 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Flat capital femoral epiphysis, Metaphyseal striations, Posterior subcapsular cataract, Lumbar in... |
OMIM:271510 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Type II diabetes mellitus, Hand polydactyly, Ataxia, Bilateral single transver... |
ORPHA:2377 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Delayed eruption of teeth, Sparse bone trabeculae, Difficulty walking, Fibular ... |
OMIM:277440 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Onion bulb formation, Tapered finger, Flexion contracture, Inability to walk,... |
OMIM:218000 |
Hand-Foot-Genital Syndrome |
|
Pseudoepiphyses, Short 5th finger, Short first metatarsal, Short 1st metacarpal, Delayed ossifica... |
OMIM:140000 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Ring Chromosome 10 Syndrome |
|
Tapered finger, Micrognathia, Aganglionic megacolon, Cachexia, Short neck, Sandal gap, Hypocalcemia |
ORPHA:1438 |
Lamb-Shaffer Syndrome |
|
Optic atrophy, Thoracic kyphosis, Fused cervical vertebrae, Micrognathia, Hip dysplasia, Ataxia, ... |
ORPHA:530983 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane... |
ORPHA:91495 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Severe platyspondyly, T lymphocytopenia, Inability to walk, Micrognathia... |
ORPHA:508533 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Inc... |
ORPHA:94086 |
Weill-Marchesani Syndrome 2 |
|
Thin bony cortex, Elbow flexion contracture, Ectopia lentis, Delayed skeletal maturation, Iridodo... |
OMIM:608328 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Mandibular prognathia, Sandal gap, Scoliosis, Brachydactyly, Ma... |
ORPHA:2180 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Positive regitine blocki... |
ORPHA:29072 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Sclerosteosis |
|
Finger syndactyly, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of the hand, Inc... |
ORPHA:3152 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Micrognathia,... |
OMIM:258315 |
Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal conjunctiva morphology, Scarring, Keratoconjunctivitis s... |
ORPHA:797 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Dental malocclusion, Tiger tail banding, Joint laxity, Ataxia, Brachydactyly, Spa... |
OMIM:619692 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Short toe, Hypoplastic iliac wing, Flexion contracture, Short foot, Shor... |
OMIM:611717 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Clinodactyly of the 2nd finger, Coxa valga, Ventricular septal defect, Short fo... |
OMIM:620073 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... |
ORPHA:2634 |
Anauxetic Dysplasia 3 |
|
Hip subluxation, High anterior hairline, Genu valgum, Metaphyseal cupping, Sparse scalp hair, Ret... |
OMIM:618853 |
Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... |
OMIM:173800 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Brachydactyly, Aortic valve stenosis, Short thumb, Pulmonic stenosis |
ORPHA:3449 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middl... |
OMIM:309620 |
Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Craniosynostosis, Micrognathia, Inguinal hernia, Multiple... |
ORPHA:2645 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Rod-cone dystrophy, Hyperglycemia, Retinal degeneration, Bone spicule pigmentation o... |
OMIM:615986 |
Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Optic atrophy, Small for gestational age, Clinod... |
OMIM:614261 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Short Syndrome |
|
Abnormal pupil morphology, Alopecia, Abnormal anterior chamber morphology, Megalocornea, Abnormal... |
ORPHA:3163 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Short 4th metacarpal, Camptodactyly, Broad hallux, Limb undergrowth, Ovoid vertebral bodies, Limi... |
OMIM:618019 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Metaphyseal sclerosis, Leukonychia, Weight loss, Pericardial eff... |
ORPHA:2905 |
Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Ischemic stroke, Macular edema, Vitritis, Tra... |
ORPHA:40923 |
Laron Syndrome |
|
Hypercholesterolemia, Short toe, Abnormality of the elbow, Delayed eruption of teeth, Micrognathi... |
ORPHA:633 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... |
ORPHA:440354 |
Marshall-Smith Syndrome |
|
Decreased body weight, Hallux valgus, Melanocytic nevus, Synophrys, Atlantoaxial dislocation, Opt... |
OMIM:602535 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness |
OMIM:605899 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Gracile Bone Dysplasia |
|
Asplenia, Slender long bone, Hypoplastic spleen, Failure to thrive, Flared metaphysis, Decreased ... |
OMIM:602361 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ankle clonus, Flexion contracture, Spastic gait, Clinodactyly, Camptodactyly, Hammertoe, Pes cavu... |
OMIM:275900 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Mandibular prognathia, Delayed eruption of primary te... |
ORPHA:819 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... |
OMIM:164900 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Broad long bone diaphyses, Rhizomelia, Short iliac bones, Supernumerary nipple, Attenuation of re... |
OMIM:614376 |
Cantu Syndrome |
|
Broad first metatarsal, Coxa valga, Erlenmeyer flask deformity of the femurs, Pericardial effusio... |
OMIM:239850 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ventricular hypertrophy, Patent foramen ovale, Rhizomelia, Ulnar deviation of the hand or of fing... |
OMIM:602613 |
Blount Disease |
|
Abnormal tibial metaphysis morphology, Abnormality of the knee, Abnormality of the proximal tibia... |
ORPHA:2768 |
Sotos Syndrome |
|
Pedal edema, 2-3 toe syndactyly, Flexion contracture, No permanent dentition, Acute lymphoblastic... |
ORPHA:821 |
Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Small hand, Kyphosis, Short metacarpal, Abnormality of the elbow, Synostos... |
ORPHA:3121 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Ventricular septal defect, Hypopla... |
OMIM:142900 |
Greig Cephalopolysyndactyly Syndrome |
|
Delayed cranial suture closure, Preaxial hand polydactyly, Hyperglycemia, Joint contracture of th... |
OMIM:175700 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Short... |
OMIM:269250 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Sho... |
ORPHA:36234 |
Alpha-Heavy Chain Disease |
|
Alopecia, Anemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Delayed cranial suture closure, Flexion contracture, Coxa valga, Acroosteolysis of distal phalang... |
OMIM:248370 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, B lymphocytopenia, Clinodactyly, Failure to thrive, Lipodystrophy, Lymph... |
OMIM:618048 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cellulitis, Lymphocytosis, Vasculitis in the skin, Cervical lymphadenopathy, Failure to thrive, L... |
OMIM:617718 |
Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Ventricular hypertrophy, Retrognathia, Ventricular septal defect, Micrognath... |
OMIM:612561 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
2-3 toe syndactyly, Short toe, Tapered finger, Hallux valgus, Coloboma, Micrognathia, Short finge... |
OMIM:618659 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Retrognathia, Splenomegaly, Flexion contracture, Coxa valga, Ven... |
OMIM:608149 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Periostitis, Osteopenia, Eleva... |
OMIM:612852 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Severe platyspondyly, Short neck, Ovoid vertebral bodies, Limb undergr... |
OMIM:151210 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Pericardial effusion, Elevated circulating creatine kinase concentratio... |
ORPHA:26793 |
Adams-Oliver Syndrome |
|
Absent toe, Thrombocytopenia, Absent hand, Sparse hair, Congenital hepatic fibrosis, Alopecia, Ta... |
ORPHA:974 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Retrognathia, Short toe, Aplasia/Hypoplasia of the eyebrow, Flexion contracture, Micrognathia, Br... |
ORPHA:98791 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micrognathia, Brachydactyly, Split hand, Micromelia, Craniosynostosis |
ORPHA:2145 |
Shashi-Pena Syndrome |
|
Retrognathia, Kyphosis, Short metacarpal, Synophrys, Accelerated skeletal maturation, Long eyelas... |
OMIM:617190 |
Vitamin K Antagonist Embryofetopathy |
|
Optic atrophy, Epiphyseal stippling, Cataract, Short neck, Brachydactyly, Punctate vertebral calc... |
ORPHA:1914 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Achilles tendon ca... |
OMIM:617994 |
Lowry-Wood Syndrome |
|
Coxa vara, Patellar dislocation, Irregular epiphyses, Abnormality of retinal pigmentation, Brachy... |
ORPHA:1824 |
Refractory Celiac Disease |
|
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... |
ORPHA:398063 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Inability to walk, Optic atrophy, Synophrys, Flared iliac wing, Hypertrophic... |
OMIM:617303 |
Short Stature With Microcephaly And Distinctive Facies |
|
Sparse eyebrow, Anemia, Sparse scalp hair, Decreased body weight, Small for gestational age, Spot... |
OMIM:615789 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Cataract, Delayed skeletal maturation, Brachydactyly, Abnormal epiphysis morph... |
ORPHA:2643 |
Aarskog-Scott Syndrome |
|
Broad foot, Short 5th finger, Short neck, Radial deviation of finger, Short palm, Cervical spine ... |
OMIM:305400 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Tubulonodular pericallosal lipoma, Patellar hypoplasia, Preaxial foot p... |
OMIM:603671 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,... |
OMIM:250220 |
Diamond-Blackfan Anemia 21 |
|
Tapered finger, Hallux valgus, Micrognathia, Secundum atrial septal defect, Synophrys, Coarse hai... |
OMIM:620072 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Flexion contrac... |
ORPHA:2850 |
Aicardi Syndrome |
|
Multiple lipomas, Abnormality of skin pigmentation, Sparse lateral eyebrow, Small hand, Optic atr... |
ORPHA:50 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Biconcave vertebral bodies, Hypopigmentation of the skin, Brittle hair, Mitra... |
OMIM:236200 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, Abnormal heart morphology, T lymphocytopenia |
DECIPHER:16 |
Cranioectodermal Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Radial deviation of finger, Flattened epiphysis, Hepato... |
OMIM:218330 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Fusion of midcervical facet joints, Widening of cervical spinal cana... |
OMIM:606842 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Flexion contracture, Hallux valgus, Inability to walk, Optic atrophy, Delayed eruption ... |
ORPHA:261552 |
Temtamy Syndrome |
|
Lens luxation, Micrognathia, Hypoplasia of teeth, Hip dislocation, Pes planus, Ectopia lentis, Ao... |
OMIM:218340 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Dislocated radial head, Abno... |
ORPHA:401935 |
Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Micrognathia, Mesomelic arm shortening, High anterio... |
ORPHA:97360 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Absent gallbladder, Neonatal death, Hypoplastic pubic bone, Natal tooth, Short ribs,... |
OMIM:617925 |
Achondroplasia |
|
Limited elbow extension, Rhizomelia, Kyphosis, Short long bone, Cervical spinal canal stenosis, S... |
ORPHA:15 |
Poland Syndrome |
|
Retinal hamartoma, Spina bifida occulta, Short neck, Absent hand, Reduced bone mineral density, A... |
ORPHA:2911 |
Caffey Disease |
|
Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Calvarial hyperostosis, ... |
OMIM:114000 |
Suleiman-El-Hattab Syndrome |
|
Polydactyly, Patent foramen ovale, Ventricular septal defect, Synophrys, Clinodactyly, Frontal hi... |
OMIM:618950 |
Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Flared metaphysis, Brachydactyly, Short g... |
OMIM:187601 |
Potocki-Shaffer Syndrome |
|
Brachydactyly, Single transverse palmar crease, 2-5 finger cutaneous syndactyly |
OMIM:601224 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short palm, Short foot, Brachydactyly |
OMIM:618522 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Joint dislocation, Abnormal ossification involving... |
ORPHA:1190 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Abnormal metacarpal morphology, Abnormal sacrum morphology, Hypoplasia of the maxi... |
ORPHA:93262 |
Hall-Riggs Syndrome |
|
Thick hair, Delayed eruption of teeth, Coarse hair, Joint stiffness, Brachydactyly, Failure to th... |
ORPHA:2107 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Truncus arteriosus, Patellar dislocation, Optic atrophy, Micrognathia, ... |
ORPHA:567 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Clinodactyly, Hypoplasia of the maxilla, Multiple cafe-a... |
ORPHA:85279 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Optic nerve compression, Recurrent fractures, Abnormalit... |
ORPHA:667 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... |
OMIM:231070 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S... |
ORPHA:93333 |
Bent Bone Dysplasia Syndrome 1 |
|
Hypoplastic pubic bone, Coronal craniosynostosis, Micrognathia, Hepatosplenomegaly, Decreased cal... |
OMIM:614592 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Short ribs, Radial bowing, Micrognathia, Missing ribs, Ulnar bowing, Micromel... |
OMIM:617866 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Alopecia, Rod-cone dystrophy, Cafe-au-lait spot, Hallux valgus, Ventricular septal defect, Heart ... |
ORPHA:166035 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Hepatic fibrosis, Ventricula... |
OMIM:263520 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Flexion contracture, Palmoplantar cutis gyrata, Abnormality of... |
ORPHA:75496 |
Periventricular Nodular Heterotopia 7 |
|
Knee flexion contracture, 2-3 toe syndactyly, 1-4 toe syndactyly, Ventricular septal defect, 4-5 ... |
OMIM:617201 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Mandibular prognathia, Patchy distortion of vertebrae, Hypoplasia of the maxi... |
ORPHA:1248 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Inability to walk, Optic atrophy, Micrognathia, Hip dysplasia, Ataxia, Dev... |
OMIM:617183 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Thyroid lymphangiectasia, Micrognathia, Pulmonary lymphangiectasia, Hy... |
OMIM:235255 |
Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Micrognathia, Atrial septal defect, Brachydactyly, Hypoplasia of the max... |
ORPHA:776 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Massively thickened long bone cortices, Increased bone mineral density, ... |
ORPHA:1798 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Delayed cranial suture closure, Flexion contracture, Acroosteolysis of d... |
OMIM:608612 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Cellulitis, Short foot, Brachydactyly |
OMIM:266265 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Cardioacrofacial Dysplasia 2 |
|
Atrioventricular canal defect, Genu valgum, Clinodactyly of the 5th finger, Recurrent patellar di... |
OMIM:619143 |
Fgfr2-Related Bent Bone Dysplasia |
|
Coronal craniosynostosis, Micrognathia, Hypoplastic ischia, Bowing of the legs, Incomplete ossifi... |
ORPHA:313855 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... |
OMIM:612965 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Hypophosphatemia, Bone pain, Bowing of the legs, Rickets, Iron deficiency anemia, H... |
ORPHA:89937 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Abnormal cardiac septum morphology, Prominence of the premaxilla, Congen... |
ORPHA:2412 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... |
OMIM:119800 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... |
ORPHA:1876 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Grayish enamel, Micrognathia, Delayed skeletal maturation, Cutaneous s... |
ORPHA:2980 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Abnormality of the elbow, Hypertrophic card... |
ORPHA:2701 |
Bardet-Biedl Syndrome 1 |
|
Broad foot, Attenuation of retinal blood vessels, Biliary tract abnormality, Radial deviation of ... |
OMIM:209900 |
Mucopolysaccharidosis Type 1 |
|
Retinopathy, Optic atrophy, Hypertrophic cardiomyopathy, Abnormality of the tonsils, Abnormal met... |
ORPHA:579 |
Vipoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Hypokalemia, Neoplasm of the pancre... |
ORPHA:97282 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Mandibular prognathia, Small hand, Kyphosis, Joint laxity, Pes cavus, Sandal gap, Br... |
OMIM:300354 |
Distal Monosomy 10Q |
|
Tapered finger, Micrognathia, Hip dislocation, Spina bifida occulta, 2-3 toe cutaneous syndactyly... |
ORPHA:96148 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Foot oligodactyly, Ventricular septal defect, Syndactyly, Brachydactyly, Sple... |
OMIM:616589 |
Pseudohypoparathyroidism Type 1B |
|
Conjunctivitis, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Increased ... |
ORPHA:94089 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
Kury-Isidor Syndrome |
|
Sacral dimple, Exudative vitreoretinopathy, Alopecia, Ventricular septal defect, Finger syndactyl... |
OMIM:619762 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Anemia, Delayed closure of the anterior fontanelle, Retinal calcification, Tra... |
OMIM:127000 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Fair hair, Hypoplastic vertebral bodies, Blue irides, Short toe, Absent/... |
ORPHA:280651 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Broad phalanges of the hand, Ventricular septal defect, Spinal canal stenosis, ... |
OMIM:277600 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Micrognathia, Elbow flexion contracture, H... |
OMIM:245600 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Recurrent fractures, Posterior vitreous detachm... |
OMIM:133780 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent corneal erosions, Neuropathic arthropathy, Hypertension, Increased blood urea nitrogen,... |
OMIM:223900 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Tibial bowing, Cortical thickening of long bone diaphyses, Femora... |
OMIM:166740 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Inability to walk, Calcinosis, Optic atrophy, Micrognathia, Hypokalemia, Hypertension, Epiphyseal... |
OMIM:617913 |
Srd5A3-Cdg |
|
Rod-cone dystrophy, Coloboma, Kyphosis, Optic atrophy, Optic disc hypoplasia, Spotty hyperpigment... |
ORPHA:324737 |
Mandibuloacral Dysplasia |
|
Delayed cranial suture closure, Acroosteolysis of distal phalanges (feet), Micrognathia, Increase... |
ORPHA:2457 |
Dental Anomalies And Short Stature |
|
Intervertebral space narrowing, Mandibular prognathia, Mitral valve prolapse, Narrow vertebral in... |
OMIM:601216 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Ventricular septal defect, Short ribs, Hypoplasia of the radius, Micromelia, Sy... |
OMIM:617895 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Small hand, Micrognathia, Patchy osteosclerosis, Spinal canal stenosis, Astigm... |
ORPHA:2323 |
Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Micrognathia, Elbow dislocation, Abnormal metaphysis morphology, Abnorma... |
ORPHA:2462 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Multiple Endocrine Neoplasia Type 2 |
|
Hyperlordosis, Hypertension associated with pheochromocytoma, Ganglioneuromatosis, Aganglionic me... |
ORPHA:653 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Optic atrophy, Choreoathetosis, Pancreatitis, Failure to thrive, Hyperammonemia, Hepatome... |
ORPHA:79312 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality o... |
ORPHA:3035 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Osteomyelitis, Weight loss, Arthritis, Abnormal vertebral morphology, Bone pain, Osteolys... |
ORPHA:324964 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Thin bony cortex, Metaphyseal irregularity, Recurrent... |
OMIM:241530 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Osteopetrosis, Autosomal Recessive 2 |
|
Genu valgum, Anemia, Osteomyelitis, Cranial nerve compression, Optic atrophy, Recurrent fractures... |
OMIM:259710 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Micrognathia, Dextrocardia, Brachydactyly |
ORPHA:2863 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Hypoplastic iliac wing, Retrognathia, Anemia, Aplasia/Hypoplasia of the eyebrow, Coxa vara, Narro... |
ORPHA:2637 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Micrognathia, Decreased calvarial ossification, Brachydactyly, Craniosynostosi... |
OMIM:618265 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hyperextensibility at wrists, Flexion contracture, Inability to walk, Broad eyebrow, Increased la... |
ORPHA:481152 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple lipomas, Osteomalacia, Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Chondrocalcinos... |
OMIM:600740 |
Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
Trisomy 20P |
|
Camptodactyly of finger, Micrognathia, Abnormal autonomic nervous system physiology, Short neck, ... |
ORPHA:261318 |
Jansen-De Vries Syndrome |
|
Hyperlordosis, Central diaphragmatic hernia, Ventricular septal defect, Small hand, Bicuspid aort... |
OMIM:617450 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Hallux valgus, Patellar dislocation, Multiple joint contractures, Micrognath... |
ORPHA:536471 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hallux valgus, Hyperopic astigmatism, Obesity, Hypoplasia of the maxilla, ... |
ORPHA:397973 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy |
OMIM:617713 |
Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... |
ORPHA:848 |
Thanatophoric Dysplasia |
|
Kyphosis, Hip dysplasia, Micromelia, Atrial septal defect, Brachydactyly, Abnormal sacroiliac joi... |
ORPHA:2655 |
Chops Syndrome |
|
Patent foramen ovale, Splenomegaly, Curly hair, Ventricular septal defect, Optic atrophy, Coarse ... |
OMIM:616368 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Dextrocardia, Situs inversus tota... |
OMIM:615994 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Thoracic scoliosis, Cervi... |
OMIM:613702 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Butterfly vertebrae, Short neck, Scoliosis, Hemive... |
OMIM:122600 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Rod-cone dystrophy, Micrognathia, Short neck, Juvenile cataract, Patchy atro... |
ORPHA:436245 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Brachytelomesophalangy, Short distal phalanx of finger |
ORPHA:1547 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Gastric varix |
OMIM:613490 |
16P12.1P12.3 Triplication Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Tapered finger, Hallux valgus, Short 5th finger, Atrial septal ... |
ORPHA:485405 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Adducted thumb, Muscular ventricular septal defect, Single transverse palmar crease, Brachydactyly |
OMIM:620062 |
Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Polydactyly, Flexion contracture, Patellar dislocation, Coloboma,... |
OMIM:180849 |
Caudal Regression Syndrome |
|
Talipes equinovarus, Missing ribs, Hypertension, Maternal diabetes, Hypoplastic vertebral bodies,... |
ORPHA:3027 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Missing ribs, Spina bifida occu... |
OMIM:613686 |
Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Hyperinsulinemia, Abnormal EKG, Syncope, Insulin resistance, Increased blood urea nitroge... |
ORPHA:230 |
Achondroplasia |
|
Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Short femur, Limited ... |
OMIM:100800 |
White-Sutton Syndrome |
|
Broad foot, Micrognathia, Optic nerve hypoplasia, Iris coloboma, Short neck, Hypoplastic cervical... |
OMIM:616364 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Osteolysis, Hematemesis, Lethargy, Reduced bone mineral density, Thymom... |
ORPHA:652 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis, Brachydactyly |
OMIM:614819 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Clinodactyly of the 5th finger, Arthrogryposis multiplex congenita, Microretr... |
OMIM:236500 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Ventricular septal defect, Short ribs, Small for gestation... |
OMIM:616897 |
Pearson Syndrome |
|
Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, ... |
ORPHA:699 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Multiple rows of eyelashes, Short long bone, Cuboid-shaped vertebral bodies, Rhizo-me... |
ORPHA:163654 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Mandibular pain, Weight loss, Hypophosphatemia, Pancreatitis, Hypercal... |
ORPHA:143 |
Multiple Synostoses Syndrome 4 |
|
Broad foot, Overlapping toe, Brachydactyly, Tarsal synostosis, Pes planus |
OMIM:617898 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Retrognathia, Patent foramen ovale, 2-3 toe syndactyly, Mandibular prognathia, Micrognathia, Lens... |
OMIM:618914 |
Dyskeratosis Congenita |
|
Premature graying of hair, Neoplasm of the pancreas, Taurodontia, Abnormal eyelash morphology, He... |
ORPHA:1775 |
Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal retinal morphology, Prominence of the zygomatic bone, Optic atrophy, Retinal atrophy, Mi... |
ORPHA:2785 |
Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Delayed eruption of teeth, Abnormal trabecular bone morphology, Metaphys... |
ORPHA:221016 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Fused cervical vertebrae, Short neck, Scoliosis, Low posterior hairlin... |
OMIM:214300 |
Aicardi Syndrome |
|
Sparse lateral eyebrow, Optic atrophy, Block vertebrae, Missing ribs, Butterfly vertebrae, Promin... |
OMIM:304050 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Irregular ossification at anterior rib ends, Ovoid vertebral bodies, Dela... |
OMIM:260400 |
Tonne-Kalscheuer Syndrome |
|
Micrognathia, Fine hair, Congenital diaphragmatic hernia, Broad thumb, Abnormal heart morphology,... |
OMIM:300978 |
Igg4-Related Retroperitoneal Fibrosis |
|
Pedal edema, Weight loss, Rheumatoid arthritis, Large vessel vasculitis, Low back pain, Normocyti... |
ORPHA:49041 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... |
OMIM:206920 |
Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Sea-blue histiocytosis, Coxa valga, Optic atrophy, Gait disturbance, Ataxia, Hy... |
OMIM:230600 |
Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Metaphyseal dysplasia, Coxa valga, Delayed ossification of carpal bones, Lymphopenia, Brachydacty... |
OMIM:617425 |
Somatostatinoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Neoplasm of the pancreas, Intrahepa... |
ORPHA:97283 |
Hurler Syndrome |
|
Camptodactyly of finger, Retinopathy, Narrow pelvis bone, Angina pectoris, Short neck, Hepatomega... |
ORPHA:93473 |
Hemochromatosis, Type 1 |
|
Alopecia, Splenomegaly, Telangiectasia, Increased serum iron, Cirrhosis, Arthropathy, Glucose int... |
OMIM:235200 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic atrophy, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Hepatosple... |
OMIM:614866 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Chorioretinitis, Conjunctival hyperemia, P... |
ORPHA:509 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Sple... |
ORPHA:231222 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Left ventricular hypert... |
ORPHA:85451 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Elbow... |
OMIM:210710 |
Wildervanck Syndrome |
|
Pseudopapilledema, Fused cervical vertebrae, Lens subluxation, Short neck, Low posterior hairline... |
ORPHA:3456 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Abnormal trabecular bone morphology, Metaphys... |
ORPHA:221008 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Postaxial polydactyly, Short long bone |
OMIM:615633 |
Cockayne Syndrome |
|
Inability to walk, Optic atrophy, Retinal atrophy, Reduced subcutaneous adipose tissue, Cachexia,... |
ORPHA:191 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Fountain Syndrome |
|
Large hands, Kyphosis, Abnormal foot morphology, Synophrys, Abnormal metacarpal morphology, Coars... |
ORPHA:3219 |
Juvenile Paget Disease |
|
Hyperuricemia, Melanocytic nevus, Recurrent fractures, Optic atrophy, Coarse metaphyseal trabecul... |
ORPHA:2801 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Micrognathia, Osteochondritis dissecans, Camptodactyly, Elbow di... |
OMIM:224690 |
Pheochromocytoma |
|
Positive regitine blocking test, Cafe-au-lait spot, Cerebral hemorrhage, Hypertensive retinopathy... |
OMIM:171300 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Atrioventricular canal defect, Fin... |
ORPHA:2751 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Flexion contracture, Decreased body weight, Shuffling gait, Large hands, Mandibul... |
OMIM:300534 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Small hand, Macrodontia of permanent maxillary central incisor, Delayed erup... |
OMIM:257850 |
Glucagonoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Neoplasm of the pancreas, Normochro... |
ORPHA:97280 |
Coffin-Siris Syndrome 6 |
|
Retrognathia, Micrognathia, Clinodactyly, Atrial septal defect, Kyphoscoliosis, Brachydactyly, Wo... |
OMIM:617808 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Elevated circulating gamma-aminobutyric acid concentration, Hepatic b... |
OMIM:619658 |
Grfoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the thymus, Weight loss, Palmoplanta... |
ORPHA:97261 |
Rhyns Syndrome |
|
Short femoral neck, Short long bone, Radial bowing, Osteopenia, Brachydactyly, Osteoporosis |
OMIM:602152 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu... |
OMIM:307800 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Abnormality of peripheral nerve conduct... |
ORPHA:168563 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Patent foramen ovale, Enamel hypoplasia, Tracheobronchomalacia, Short long bone... |
OMIM:619184 |
Cardiospondylocarpofacial Syndrome |
|
Synostosis of carpal bones, Short palm, Mitral valve prolapse, Brachydactyly |
ORPHA:3238 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Upper limb amyotrophy, Spastic gait, Abnormal circulating cholesterol concentration, Optic atroph... |
OMIM:270800 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Enamel hypoplasia, Weight loss, Type I diabetes mellitus, Ataxia, Rickets, Failure to t... |
OMIM:212750 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Abnormal retinal morphology, Shuffling gait, Optic atrophy, Facial palsy, Ataxia, Elevated circul... |
ORPHA:254886 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Hypoplastic sacrum, Mandibular prognathia, Rhizomelia, Short metacarpal, Short femoral neck, Smal... |
OMIM:614813 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Micrognathia, Pulmonary lymphangiectasia, Hepatosplenomegaly, Hypertri... |
ORPHA:1655 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... |
OMIM:221900 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia, Cirrhosis, Ventricular septal defect, Optic atrophy, Hip dysplas... |
OMIM:614576 |
Shox-Related Short Stature |
|
Genu valgum, Short foot, Micrognathia, Lower limb undergrowth, Short neck, Ulnar radial head disl... |
ORPHA:314795 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Ventricular septal defect, Short femoral neck, Gait imbalance, Fused cervical ver... |
OMIM:617159 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Enamel hypoplasia, Aplasia/Hypoplasia of the eyebrow, Hernia, Abnormality... |
OMIM:617052 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Retrognathia, 2-3 toe syndactyly, Tapered finger, Ventricular septal defect, Kyphosis, Frontal up... |
OMIM:617061 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Hip subluxation, Medial flaring of the eyebrow, Tapered finger, Isch... |
OMIM:619503 |
Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Delayed eruption of teeth, Long eyelashes, Inguinal hernia, Hirsutism, Delayed... |
OMIM:614607 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
Stickler Syndrome |
|
Micrognathia, Cachexia, Hip dislocation, Ectopia lentis, Slender build, Abnormal vitreous humor m... |
ORPHA:828 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Synophrys, Hirsutism, Delayed skeletal maturation, Thin metacarpal cortices, Thin metatarsal cort... |
ORPHA:2463 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... |
ORPHA:2176 |
Dubowitz Syndrome |
|
Delayed cranial suture closure, Delayed eruption of teeth, Toe syndactyly, Micrognathia, Acute ly... |
ORPHA:235 |
Lowry-Maclean Syndrome |
|
Retrognathia, Atrioventricular canal defect, Developmental glaucoma, Megalocornea, Talon cusp, De... |
ORPHA:2409 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Finger syndactyly, Optic atrophy, Corneal... |
ORPHA:87 |
Dpm1-Cdg |
|
Knee flexion contracture, Hepatic fibrosis, Retinopathy, Optic atrophy, Micrognathia, Long hallux... |
ORPHA:79322 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Finger syndactyly, Kyphosis, Abnormality of the elbow, Vertebral segmentation defect, S... |
ORPHA:1005 |
Kbg Syndrome |
|
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Synophrys, Clinodactyly of the 5th f... |
OMIM:148050 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Low posterior hairline, Cervic... |
OMIM:118100 |
Roberts Syndrome |
|
Wrist flexion contracture, Micrognathia, Phocomelia, Short neck, Radial deviation of finger, Thro... |
ORPHA:3103 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... |
OMIM:193220 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol... |
ORPHA:2494 |
Holoprosencephaly |
|
Retinopathy, Optic atrophy, Synophrys, Iris coloboma, Short neck, Hypoglycemia, Cyclopia, Hyponat... |
ORPHA:2162 |
Incontinentia Pigmenti |
|
Optic atrophy, Delayed eruption of teeth, Scarring, Supernumerary nipple, Breast aplasia, Eosinop... |
OMIM:308300 |
Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Hernia, Ventricular septal defect, Clinodactyly of the 5th finger, Brachydact... |
ORPHA:3306 |
Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Ventricular arrhythmia, Increased bone mi... |
ORPHA:36913 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Rickets of the lower limbs, Abnormal trabecular bone morphology, Increased b... |
ORPHA:289176 |
Mevalonic Aciduria |
|
Anemia, Cataract, Ataxia, Elevated circulating creatine kinase concentration, Hepatosplenomegaly,... |
OMIM:610377 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Kyphosis, Micromelia, Atrial septal defect, Short femur, Femoral bowing, Brachy... |
ORPHA:1860 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Short foot, Small hand, Micrognathia, Patchy osteosclerosis, Delayed skeletal ... |
OMIM:241410 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Ectopia lentis, Uppe... |
ORPHA:2092 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Tapered finger, Inability to walk, Overlapping toe, Congenital bilateral hip dislocation, Rocker ... |
ORPHA:488642 |
Split-Hand/Foot Malformation 3 |
|
Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Split hand, Nail dystrophy |
OMIM:246560 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Neonatal death, Lethargy, Brachydactyly |
OMIM:610498 |
Free Sialic Acid Storage Disease |
|
Abnormality of the upper limb, Abnormality of skin pigmentation, Abnormal foot morphology, Iris h... |
ORPHA:834 |
Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Anemia, Dystrophic toenail, Tapered finger, Aplasia/Hypoplasia of the... |
ORPHA:2930 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Metaphyseal striations, Alopecia ... |
ORPHA:2909 |
Radio-Tartaglia Syndrome |
|
Retrognathia, High anterior hairline, Tapered finger, Ventricular septal defect, Gait imbalance, ... |
OMIM:619312 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Toe... |
ORPHA:1540 |
Filippi Syndrome |
|
Serrated incisors, Decreased body weight, Ventricular septal defect, Optic atrophy, Frontal hirsu... |
OMIM:272440 |
Larsen Syndrome |
|
Accessory carpal bones, Abnormality of the cervical spine, Finger syndactyly, Vertebral segmentat... |
ORPHA:503 |
Myopathy With Extrapyramidal Signs |
|
Hyperlysinemia, Ventricular septal defect, Optic atrophy, Calf muscle hypertrophy, Choreoathetosi... |
OMIM:615673 |
Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Abnormality of skin pigmentation, Jaundice, Bone pain, Acholic stool... |
ORPHA:1414 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Transient ischemic attack, Microangiopathic hemolytic anemia, Jaundi... |
OMIM:274150 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Petechiae, Optic atrophy, Optic disc pallor, Increased bone mineral ... |
OMIM:611490 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Leukopenia, Anemia, Short metacarpal, Reticulocytopenia, B lymphocytop... |
ORPHA:508542 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... |
OMIM:273250 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Facial telangiectasia, Hallux valgus, Elbow flexion contracture, Camptod... |
OMIM:602782 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Reduced subcutaneous adipose tissue, Ivory ep... |
OMIM:133540 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypocalcemia, Long eyelashes, Hypoglycemia |
ORPHA:163693 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Per... |
ORPHA:90362 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Kyphosis, Hypoplasia of the maxilla, Long foot, Scoliosis, Slender build, ... |
OMIM:300676 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Micrognathia, Bicuspid aortic valve, Clinodactyly, Camptodactyly, Broad hallux, B... |
OMIM:618529 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Metaphyseal cupping, Pear-shaped vertebrae, Coxa vara,... |
OMIM:602111 |
Al-Raqad Syndrome |
|
Gait ataxia, Hypopigmentation of the skin, Inability to walk, Joint laxity, Atrial septal defect,... |
OMIM:616459 |
Apert Syndrome |
|
Delayed cranial suture closure, Humeroradial synostosis, Delayed eruption of teeth, Postaxial han... |
OMIM:101200 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Ventricular septal defect, Optic atrophy, Recurrent fractures, Del... |
ORPHA:1782 |
Cri-Du-Chat Syndrome |
|
Short metacarpal, Optic atrophy, Small for gestational age, Premature graying of hair, High axial... |
OMIM:123450 |
Down Syndrome |
|
Acute megakaryocytic leukemia, Type II diabetes mellitus, Aganglionic megacolon, Clinodactyly of ... |
ORPHA:870 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, 2-3 toe syndactyly, Metaphyseal irregularity, Rhizomelia, Ulnar deviati... |
OMIM:618162 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Mandibular pain, Hypophosphatemia, Pancreatitis, Hypercalcemia, Lipoma... |
ORPHA:99880 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Infantile Refsum Disease |
|
Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Optic atrophy, Facial palsy... |
ORPHA:772 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Gait ataxia, Mandibular prognathia, Spastic gait, Optic atrophy, Micrognathia, Hip dysplasia, Pos... |
ORPHA:496790 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Short neck, Widely patent coronal suture, Short palm, N... |
OMIM:228520 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Retrognathia, Patellar hypoplasia, Coloboma, Short neck, Brachydactyly, Short fourth metatarsal, ... |
ORPHA:464288 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Small for gestational age, Hypokalemia, Low-to-normal blood pre... |
OMIM:601678 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Short metacarpal, Brachydactyly, Hypocalcemia, Obesity |
OMIM:603233 |
Asymmetric Short Stature Syndrome |
|
Fused cervical vertebrae, Micrognathia, Hemihypotrophy of lower limb, Lumbar scoliosis |
OMIM:108450 |
Cockayne Syndrome A |
|
Optic atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Reduced subcutaneous adipose... |
OMIM:216400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Purpura, Hypertension, Reticulocytosis, Increased blood urea n... |
OMIM:235400 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, 2-3 toe syndactyly, Ventricular arrhythm... |
ORPHA:37553 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Delayed eruption of teeth, Impaired neutrophil chemotaxis... |
ORPHA:811 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Short metacarpal, Trapezoidal vertebral body, Hypoplasia of the iris, Mi... |
OMIM:600092 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Retinal hemorrhage, Pedal edema, Acute myeloid leukem... |
ORPHA:86839 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Minimal subcutaneous fat, Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial hea... |
OMIM:182212 |
Acro-Renal-Mandibular Syndrome |
|
Finger syndactyly, Kyphosis, Hypoplasia of the radius, Micrognathia, Butterfly vertebrae, Hip dis... |
ORPHA:958 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, Vertebral fusion, Widow's peak, Camptodactyly, Clinodactyly of the 5th finge... |
OMIM:227330 |
Crouzon Syndrome |
|
Conjunctivitis, Melanocytic nevus, Optic atrophy, Abnormal sacrum morphology, Hypopigmented skin ... |
ORPHA:207 |
Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Reticulocytosis, Pes cavus, Hypopigmentation of the fundus, Hepatic s... |
ORPHA:14 |
Saethre-Chotzen Syndrome |
|
Triphalangeal thumb, Hyperlordosis, Delayed cranial suture closure, Hallux valgus, Finger syndact... |
ORPHA:794 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia |
OMIM:145001 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Dysosteosclerosis |
|
Short diaphyses, Delayed closure of the anterior fontanelle, Optic atrophy, Delayed eruption of t... |
OMIM:224300 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Ulnar deviation of the wrist, Ulnar deviation of finger, Abnormality of ... |
ORPHA:1529 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Tibial bowing, Spars... |
OMIM:300554 |
Lowry-Wood Syndrome |
|
Elbow flexion contracture, Hip dislocation, Irregular epiphyses, Clinodactyly of the 5th finger, ... |
OMIM:226960 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Anemia, Avascular necrosis, Erlenmeyer flask deformity of the fe... |
OMIM:230800 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Distal arthrogryposis, Medial flaring of the eyebrow, Coxa valga, Optic atrophy, Micrognathia, Hi... |
OMIM:619833 |
Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Pulmonic stenosis, Inguinal hernia, Syndactyly, Right ventricular hypertrop... |
OMIM:616028 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short distal phalanx of finger, Osteolysis |
ORPHA:2776 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Coxa valga, Dela... |
OMIM:309350 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Pigmentary retinopathy, Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Joint contra... |
OMIM:609033 |
Cantú Syndrome |
|
Coxa valga, Hypertrophic cardiomyopathy, Short hallux, Short neck, Ovoid vertebral bodies, Delaye... |
ORPHA:1517 |
Arthrogryposis Multiplex Congenita 5 |
|
Flexion contracture, Akinesia, Cardiac arrest, Micrognathia, Elbow flexion contracture, Hip dislo... |
OMIM:618947 |
Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
Zollinger-Ellison Syndrome |
|
Multiple lipomas, Extrahepatic cholestasis, Weight loss, Increased glucagon level, Jaundice, Neur... |
ORPHA:913 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Micrognathia, Clinodactyly, Camptodactyly, Single transverse palmar crease, Brachydactyly |
OMIM:613604 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Zika Virus Disease |
|
Wrist swelling, Conjunctivitis, Subcutaneous hemorrhage, Arthritis, Retinal pigment epithelial mo... |
ORPHA:448237 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Enamel hypoplasia, Anemia, Abnormality of skin pigmentation, Atrophic scars, Sc... |
ORPHA:79402 |
Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Disl... |
OMIM:600920 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, 2-3 toe syndactyly, Anemia, Short 5th finger, Ventricular septal defect, Hype... |
ORPHA:163979 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Tapered finger, Tapered toe, Elbow flexion contracture, Eleva... |
OMIM:608836 |
Ovarian Dysgenesis 6 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:618078 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Short long bone, Short ribs, Femoral bowing, Syndactyly, Preaxial poly... |
OMIM:615503 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial septal defect, Hypoplasia of the maxilla, Broad thumb, Bro... |
ORPHA:261295 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Coxa valga, Inability to walk, Hip dislocation, Clubbing of fingers, Elbow dislocation, Knee disl... |
OMIM:620083 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Inability to walk, Optic atrophy, Lumbar kyphosis, Hepatosplenomegaly, Hyper... |
ORPHA:505248 |
Developmental And Epileptic Encephalopathy 95 |
|
Short 4th metacarpal, Multiple joint contractures, Inability to walk, Short digit, Clinodactyly o... |
OMIM:618143 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Squared-off platyspondyly, Hepatosplenomegaly, Premature osteoarthritis, Short neck, Limb undergr... |
ORPHA:93352 |
Van Maldergem Syndrome 2 |
|
Hip subluxation, Short 4th metacarpal, Micrognathia, Short fourth metatarsal, Talipes equinovarus... |
OMIM:615546 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Optic atrophy, Choreoathetosis, Ataxia, Hyperammonemia, Macrocytic anemia, He... |
ORPHA:27 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Genu valgum, Decreased corneal thickness, Micrognathia, Abnormal optic disc morphology, Pes cavus... |
ORPHA:293967 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Decreased body weight, Patchy hypo- and hyperpig... |
ORPHA:79474 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Pancreatitis |
OMIM:145981 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Sacral dimple, Anemia, Clinodactyly, Camptodactyly, Hypoplastic nipples, Atrial septal defect, Co... |
ORPHA:261323 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... |
OMIM:618652 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Optic atrophy, Hyposegmentation of neutrophil nuclei, Brachydactyly, Broad hallux, Syndactyly, Fi... |
OMIM:614800 |
Van Maldergem Syndrome 1 |
|
Sacral dimple, Dental malocclusion, Short 4th metacarpal, Cutaneous finger syndactyly, Abnormal f... |
OMIM:601390 |
Ppoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Weight loss, Neoplasm of the pancreas, Intrahepa... |
ORPHA:97278 |
Distal Trisomy 5Q |
|
Absent thumb, Hernia, Ventricular septal defect, Hypoplasia of the radius, Micrognathia, Hypoplas... |
ORPHA:96097 |
Saul-Wilson Syndrome |
|
Irregular vertebral endplates, Coxa valga, Madelung deformity, Short metacarpal, Enlarged epiphys... |
OMIM:618150 |
Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Coxa valga, Advanced eruption of teeth, Accelerated skeletal... |
OMIM:614753 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Megaloblastic anemia, Optic atrophy, Ca... |
ORPHA:49827 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Atrial septal defect, Brachydactyly, Limitation of joint mobility, Platyspondyly, Joint... |
ORPHA:93274 |
Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hip dysplasia, Synostosis o... |
ORPHA:710 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Uveal Melanoma |
|
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... |
ORPHA:39044 |
Familial Acute Necrotizing Encephalopathy |
|
Gait disturbance, Choroid hemorrhage |
ORPHA:88619 |
Frontometaphyseal Dysplasia 2 |
|
Camptodactyly, Elbow contracture, Dislocated radial head, Hirsutism, Thick eyebrow, Talipes equin... |
OMIM:617137 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Rhizomelia, Short finger, Irregular epiphyses, Joint laxity, Brachydactyly... |
OMIM:612813 |
Cln3 Disease |
|
Pigmentary retinopathy, Shuffling gait, Optic atrophy, T-wave inversion, Left ventricular hypertr... |
ORPHA:228346 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Aplasia/Hypoplasia of the eyebrow, Tip-toe gait, Cafe-au-lait spot, Clinoda... |
ORPHA:293939 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612926 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Pulmonary embolism, Leukopenia, Anemia, Hemolytic anemia, Unconjugated... |
ORPHA:447 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Coxa valga, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Brachydactyly, Short di... |
ORPHA:2163 |
20P13 Microdeletion Syndrome |
|
Polydactyly, Retinopathy, Decreased body weight, Finger syndactyly, Synophrys, Clinodactyly, Micr... |
ORPHA:313781 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Optic atrophy, Abnormal EKG, Progressive gait ataxia, Decreased/absent ankle reflexes, Pes cavus,... |
ORPHA:1177 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Optic atrophy, Premature graying of hair, Retinal telangiectasia, Bone marrow hypocellularity, Th... |
OMIM:612199 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Systolic heart murmur, Micrognathia, Portal inflammation, Hyperinsul... |
OMIM:619991 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Camptodactyly of finger, Flexion contracture, Optic atrophy, Gait disturbance, Dilated cardiomyop... |
ORPHA:272 |
Macs Syndrome |
|
Umbilical hernia, Alopecia, Sparse eyebrow, Decreased body weight, Micrognathia, Joint laxity, Br... |
OMIM:613075 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall... |
OMIM:184460 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Shoulder dislocation, Tarsal sclerosis, Coxa valga, Inability to walk, Optic atrophy, Optic disc ... |
ORPHA:404454 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar scoliosis, Small for gestational age, Synophrys, Astigmatism, Overweight, Scapular winging... |
OMIM:617796 |
Mohr Syndrome |
|
Metaphyseal irregularity, Preaxial hand polydactyly, Micrognathia, Partial duplication of the pha... |
OMIM:252100 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Delayed closure of the anterior fontanelle, Decreased body weight,... |
OMIM:614886 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Vertebral clefting, 2-3 toe syndactyly, Coxa vara, Short femoral neck, Synophrys, Radioulnar syno... |
OMIM:614701 |
Trisomy 13 |
|
Hernia, Ventricular septal defect, Kyphosis, Optic atrophy, Aplasia/Hypoplasia of the iris, Atria... |
ORPHA:3378 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
High anterior hairline, Sparse eyebrow, Rod-cone dystrophy, Cafe-au-lait spot, Ventricular septal... |
OMIM:250410 |
Non-Distal Monosomy 10Q |
|
Brachydactyly, Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse p... |
ORPHA:1581 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612925 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Micrognathia, Increased bone... |
OMIM:119600 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Unconjugated hyperbilirubinemia, Hepatic steatosis, Hypoglycemia, Delayed skele... |
OMIM:613658 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Optic atrophy, Synophrys, Adenoiditis, Hirsutism, Hepatomegaly, Coarse hair,... |
ORPHA:581 |
Short Syndrome |
|
Delayed eruption of teeth, Micrognathia, Radial deviation of finger, Delayed skeletal maturation,... |
OMIM:269880 |
Proteus Syndrome |
|
Sudden cardiac death, Metatarsus valgus, Melanocytic nevus, Hallux valgus, Retinal hamartoma, Cac... |
ORPHA:744 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Telangiectasia, Petechiae, Abnormal EKG, Optic atrophy, Generalized hypertrichosis, ... |
ORPHA:93400 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Multiple joint contractures, Clinodactyly of the 5th toe, O... |
ORPHA:264450 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Corneal keratic precipitates, Abnormal pupil morphology, Tractional retinal de... |
ORPHA:209959 |
Dahlberg-Borer-Newcomer Syndrome |
|
Mitral valve prolapse, Cataract, Brachydactyly, Short distal phalanx of finger, Hypocalcemia, Gen... |
ORPHA:1563 |
Trichorhinophalangeal Syndrome Type 2 |
|
Genu valgum, Sparse scalp hair, Joint dislocation, Avascular necrosis of the capital femoral epip... |
ORPHA:502 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Finger joint hypermobility, Pericardial effusion, Thick hair, Persistent... |
ORPHA:363705 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Protrusio acetabuli, Biconcave vertebral bodies, Dentinogenesis ... |
OMIM:259420 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormality of the humerus, Micrognathia, Adducted thumb, Brachydactyly |
ORPHA:1794 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Absent thumb, Micrognathia, Short neck, Thrombocytopenia, Lethargy, Normo... |
ORPHA:124 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Broad thumb, Brachydactyly... |
ORPHA:1770 |
Pseudoaminopterin Syndrome |
|
Hip subluxation, Asplenia, Short 4th metacarpal, Micrognathia, Clinodactyly of the 5th toe, Clubb... |
ORPHA:221120 |
Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Optic atrophy, Delayed eruption of teeth, Toe synd... |
OMIM:305600 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Decreased prealbumin level, Osteomyelitis, Reduced proportion of CD4-negative, CD8-nega... |
ORPHA:37042 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... |
OMIM:612924 |
Pycnodysostosis |
|
Spondylolysis, Aplastic clavicle, Delayed eruption of primary teeth, Micrognathia, Increased bone... |
OMIM:265800 |
Chromosome 18Q Deletion Syndrome |
|
Optic atrophy, Toe syndactyly, Pes cavus, Overlapping toe, Short neck, Rocker bottom foot, Talipe... |
OMIM:601808 |
Mgat2-Cdg |
|
Ventricular septal defect, Kyphosis, Reflex asystolic syncope, Abnormal bleeding, Long eyelashes,... |
ORPHA:79329 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Clinodactyly, Camptodactyly, Atrial septal defect, Hepatosplenome... |
ORPHA:397709 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Optic atrophy |
OMIM:614702 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Vertebral hypoplasia, Ventricular septal defect, Coloboma, Missing ribs, Butter... |
OMIM:206900 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camp... |
ORPHA:95699 |
Craniolenticulosutural Dysplasia |
|
Abnormality of skin pigmentation, Brittle hair, Posterior Y-sutural cataract, Posterior wedging o... |
ORPHA:50814 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Jaberi-Elahi Syndrome |
|
Gait ataxia, Sparse eyebrow, Hand clenching, Kyphosis, Inability to walk, Optic atrophy, Brittle ... |
OMIM:617988 |
Classic Homocystinuria |
|
Optic atrophy, Subcutaneous hemorrhage, Ectopia lentis, Hepatomegaly, Pulmonary embolism, Genu va... |
ORPHA:394 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Tapered finger, Ventricular septal defect, Kyphosis, Perimembranous ventri... |
OMIM:301040 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Micrognathia, Synophrys, Hypoplasia of proximal radius, Thick eyebrow, Thick hai... |
ORPHA:444077 |
Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, 2-3 toe syndactyly, Optic atrophy, Micrognathia, Hip dislocation, ... |
ORPHA:818 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Short ribs, Flat acetabular roof, Micromelia, Syndactyly, Mesomelia... |
OMIM:614091 |
Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Dental malocclusion, Short 5th finger, Decreased body weight, Spar... |
OMIM:300867 |
Congenital Disorder Of Glycosylation, Type Id |
|
Flexion contracture, Optic atrophy, Joint contracture of the hand, Clinodactyly of the 5th toe, C... |
OMIM:601110 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Contractures of the large joints, Optic atrophy, Micrognathia, Elevated circ... |
ORPHA:329178 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Flexion contracture, Decreased body weight, Delayed eruption of teeth, Broad ... |
OMIM:300166 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Micrognathia, Vaginal hernia, Hypertrophic cardiomyopathy, Cataract, Broad thumb, Optic disc pallor |
ORPHA:3173 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Micrognathia, Distal symphalangism, Elevated circulating creatinin... |
OMIM:154230 |
Alpha-Mannosidosis |
|
Arthritis, Avascular necrosis, Delayed skeletal maturation, Synostosis of joints |
ORPHA:61 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Osteolytic defects of the phalanges of the hand, Hip subluxation, De... |
OMIM:182250 |
Alkaptonuria |
|
Vertebral fusion, Thickened Achilles tendon, Kyphosis, Arthropathy, Low back pain, Intervertebral... |
OMIM:203500 |
Charge Syndrome |
|
Coloboma, Micrognathia, Secundum atrial septal defect, Iris coloboma, Bilateral talipes equinovar... |
OMIM:214800 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Micrognathia, Brachydactyly, Palmoplantar keratoderma, Cone-shaped epiphysis |
ORPHA:2824 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Retrognathia, Right bundle branch block, Tapered finger, Mandibular prognathia, Inability to walk... |
OMIM:619576 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Siderobl... |
OMIM:249270 |
Frontorhiny |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Widow's peak, Hypoplasia of the maxilla, Ir... |
ORPHA:391474 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Enamel hypoplasia, Dental malocclusion, Micrognathia, Ivory epiphyses, Elbow fl... |
OMIM:210600 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Hyperlordosis, Limited knee flexion/extension, Right bundle branch block, Tip-toe gait, Limited e... |
ORPHA:268 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Hypotonia-Cystinuria Syndrome |
|
Long eyelashes, Neonatal hypoglycemia, Failure to thrive, Hypocalcemia, Facial palsy |
OMIM:606407 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Micrognathia, Abnormal optic disc morphology, Supernumerary nipple, Early ossification of capital... |
ORPHA:397715 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Preaxial hand polydactyly, Toe syndactyly, Preaxial foot polydactyly, Central Y... |
OMIM:277170 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Megalocornea, Mandibular prognathia, Corneal dystrophy... |
ORPHA:1101 |
Multiple Endocrine Neoplasia, Type I |
|
Cafe-au-lait spot, Insulinoma, Carcinoid tumor, Hypoglycemia, Pancreatic islet cell adenoma, Hype... |
OMIM:131100 |
Juvenile Sialidosis Type 2 |
|
Cherry red spot of the macula, Optic atrophy, Generalized hypertrichosis, Ataxia, Hepatosplenomeg... |
ORPHA:93399 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Wolf-Hirschhorn Syndrome |
|
Retinopathy, Abnormal cardiac septum morphology, Optic atrophy, Micrognathia, Short hallux, Iris ... |
ORPHA:280 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Keloids, Micrognathia, Hip dysplasia, Clubbing of toes, Clinodactyly of the 5t... |
ORPHA:783 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Hypertension, Incre... |
OMIM:608600 |
Lethal Kniest-Like Dysplasia |
|
Abnormality of the ischium, Hypoplastic ilia, Mesomelic/rhizomelic limb shortening, Short ribs, A... |
ORPHA:2347 |
Marshall-Smith Syndrome |
|
Retrognathia, Increased susceptibility to fractures, Optic atrophy, Craniosynostosis, Slender lon... |
ORPHA:561 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Umbilical hernia, Hyperlordosis, Inguinal hernia, Short neck, Brachydactyly, Retinal detachment, ... |
ORPHA:3218 |
2Q37 Microdeletion Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Finger syndactyly, Short metacarpal, Small hand, Toe syndactyl... |
ORPHA:1001 |
Acrofacial Dysostosis, Catania Type |
|
Small hand, Finger syndactyly, Coarse hair, Clinodactyly of the 5th finger, Microretrognathia, Sp... |
ORPHA:1786 |
Gaucher Disease |
|
Retinopathy, Increased bone mineral density, Osteolysis, Delayed skeletal maturation, Hepatomegal... |
ORPHA:355 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Sparse eyebrow, Finger syndactyly, Limitation of joint mobility, Hypopla... |
ORPHA:178303 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Retrognathia, Ventricular septal defect, Failure to thrive, Hypertrophic cardiomyopathy, Short ne... |
OMIM:612938 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Biconcave vertebral bodies, Retinal degeneration, Abnormal auditory evoked potentials, Synophrys,... |
OMIM:619260 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Gait ataxia, Delayed cranial suture closure, Flexion contracture, Inability to walk, Optic atroph... |
OMIM:619383 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Delayed closure of the anterior fontanelle, Short 5th finger, Toe syndactyly, Micrognathia, Synop... |
OMIM:610759 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Coloboma, Micrognathia, Broad hallux, Short neck, Slender finger, Bilateral talipes equinovarus, ... |
ORPHA:251028 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of the iris,... |
ORPHA:84 |
Alpha-Mannosidosis, Infantile Form |
|
Hypoplastic inferior ilia, Cortical thickening of long bone diaphyses, Hepatosplenomegaly, Osteol... |
ORPHA:309282 |
Keipert Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Short hallux, Broad thumb, Broad hallu... |
ORPHA:2662 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Sagittal craniosynostosis, Ventricular septal defect, Bicuspid aortic valve... |
OMIM:618027 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Rickets, Hypophosphatemic rickets, Hypercalcemia, Bone pain |
OMIM:612089 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Myhre Syndrome |
|
Mandibular prognathia, Abnormal cardiac septum morphology, Large iliac wing, Craniofacial hyperos... |
ORPHA:2588 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Asplenia, Ventricular septal defect, Kyphosis, Micrognathia, Campt... |
OMIM:619123 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Delayed closure of the anterior fontanelle, Generalized joint laxity, Abnormal subcutaneous fat t... |
ORPHA:357074 |
Campomelia, Cumming Type |
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Clubbing of toes, Micromelia, Hepatomegaly, Brachydactyly, Abnormally ossified vertebrae, Bowing ... |
ORPHA:1318 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Epiphyseal stippling, Metata... |
OMIM:214100 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Coxa valga, Aplastic clavicle, Delayed eruption of primary teeth, Delayed ossificati... |
OMIM:620099 |
Cranioectodermal Dysplasia 2 |
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Polydactyly, Biliary cirrhosis, Micrognathia, Short neck, Hepatomegaly, Postaxial hand polydactyl... |
OMIM:613610 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Delayed cranial suture closure, Hypocalcemic tetany, Hyperphosphatemia, Anemia, Calvarial osteosc... |
ORPHA:93325 |
X-Linked Intellectual Disability, Najm Type |
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Optic atrophy, Micrognathia, Gait disturbance, Optic nerve hypoplasia, Failure to thrive, Catarac... |
ORPHA:163937 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Micrognathia, Elbow dislocation, Short neck, Sacral dimp... |
ORPHA:1507 |
Jacobsen Syndrome |
|
Flexion contracture, Ventricular septal defect, Optic atrophy, Macular hypoplasia, Micrognathia, ... |
OMIM:147791 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
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Gait ataxia, Optic atrophy, Truncal ataxia, Facial palsy, Mitral valve prolapse, Limb ataxia, Ele... |
OMIM:258450 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Camptodactyly of finger, Flexion contracture, Hallux valgus, Premature graying of hair, Elbow fle... |
OMIM:256040 |
Vitreoretinopathy, Neovascular Inflammatory |
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Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
Congenital Tricuspid Valve Dysplasia |
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Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Monosomy 18P |
|
Alopecia, Micrognathia, Hypertension, Kyphoscoliosis, Short neck, Brachydactyly, Carious teeth, L... |
ORPHA:1598 |
Aicardi-Goutieres Syndrome 9 |
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Anemia, Hepatic fibrosis, Hemolytic anemia, Weight loss, Optic atrophy, Pericardial effusion, Lef... |
OMIM:619487 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Short phalanx of finger, Early ossification of capital femoral epiphyses, Conjugated hyperbilirub... |
OMIM:208500 |
Hennekam Syndrome |
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Camptodactyly of finger, Retrognathia, Finger syndactyly, Delayed eruption of teeth, Pericardial ... |
ORPHA:2136 |
Cinca Syndrome |
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Anemia, Arthritis, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein c... |
OMIM:607115 |
Cockayne Syndrome Type 3 |
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Abnormality of peripheral nerve conduction, Flexion contracture, Premature graying of hair, Retin... |
ORPHA:90324 |
Mucopolysaccharidosis, Type Ii |
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Splenomegaly, Flexion contracture, Tracheobronchomalacia, Kyphosis, Delayed eruption of teeth, Co... |
OMIM:309900 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Rieger anomaly, Coxa valga, Abnormally prominent line of Schwalbe, Abnormal auditory evoked poten... |
OMIM:109120 |
Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hypertriglyceridemia, Elevated diastolic blo... |
ORPHA:90041 |
Fixed Subaortic Stenosis |
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Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Abnormality of the wrist, Micror... |
ORPHA:1307 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
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Symphalangism affecting the phalanges of the hand, Abnormal mitral valve morphology, Clinodactyly... |
ORPHA:1292 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Juvenile g... |
ORPHA:480536 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Calvarial osteosclerosis, Partial duplication of the phalanx of hand, Micrognathia, Clinodactyly,... |
OMIM:616331 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Optic atrophy, Choreoathetosis, Malar prominence, Abnormality of retinal p... |
ORPHA:2715 |
Retinoblastoma |
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Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Cellulitis, Leukocoria, Subretinal pi... |
ORPHA:790 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Patellar dislocation, Optic atrophy, Supernumerary nippl... |
ORPHA:261349 |
Lenz-Majewski Hyperostotic Dwarfism |
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Delayed cranial suture closure, Increased bone mineral density, Delayed skeletal maturation, Abno... |
ORPHA:2658 |
Warburg Micro Syndrome 3 |
|
Ankle clonus, Flexion contracture, Inability to walk, Optic atrophy, Micrognathia, Clinodactyly o... |
OMIM:614222 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short distal phalanx of finger, Genu valgum, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1295 |
Short-Rib Thoracic Dysplasia 12 |
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Broad foot, Limb undergrowth, Short neck, Hepatomegaly, Short palm, Splenomegaly, Patent foramen ... |
OMIM:269860 |
Acrofrontofacionasal Dysostosis |
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Camptodactyly of finger, Micromelia, Broad thumb, Brachydactyly, Short distal phalanx of finger, ... |
ORPHA:1784 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Mitten deformity, Enamel hypoplasia, Anemia, Abnormality of skin pigmentation, Atrophic scars, Ca... |
ORPHA:79411 |
Syndromic Recessive X-Linked Ichthyosis |
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Abnormal stomach morphology |
ORPHA:281090 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Pulmonary insufficiency, Recurrent fractures, Small for gestational age, Con... |
OMIM:166210 |
Rin2 Syndrome |
|
Increased susceptibility to fractures, Sparse scalp hair, Bruising susceptibility, Joint hypermob... |
ORPHA:217335 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Delayed skeletal maturation, Patent foramen ovale, Fusion of middle ear ossicles... |
OMIM:157800 |
Campomelic Dysplasia |
|
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Tracheomalacia, Metatarsus... |
OMIM:114290 |
Hennekam-Beemer Syndrome |
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Hypotension, Camptodactyly of finger, Delayed cranial suture closure, Irregular hyperpigmentation... |
ORPHA:2135 |
Pgm3-Cdg |
|
T lymphocytopenia, Bone marrow hypocellularity, Eosinophilia, Decreased proportion of CD4-positiv... |
ORPHA:443811 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Triphalangeal thumb, Contractures of the large joints, Ventricular septal defect, Optic atrophy, ... |
ORPHA:3078 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Trisomy 9P |
|
Sacral dimple, Abnormal pupil morphology, Kyphosis, Clinodactyly of the 5th finger, Bilateral sin... |
ORPHA:236 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Horizontal eyebrow, Micrognathia, Hip dysplasia, Synophrys, Clinodactyly of the 5th finger, Long ... |
OMIM:618381 |
Gitelman Syndrome |
|
Pericardial effusion, Neoplasm of the pancreas, Palpitations, Chondrocalcinosis, Glucose intolera... |
ORPHA:358 |
Wolfram Syndrome 1 |
|
Megaloblastic anemia, Optic atrophy, Sideroblastic anemia, Ataxia, Diabetes mellitus, Cataract, L... |
OMIM:222300 |
Endocrine-Cerebroosteodysplasia |
|
Micrognathia, Enlarged kidney, Talipes equinovarus, Hitchhiker thumb, Micromelia, Brachydactyly, ... |
OMIM:612651 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Retrognathia, Biliary hyperplasia, B lymphocytopenia, Perimembranous ventr... |
ORPHA:83617 |
Craniosynostosis 2 |
|
Triphalangeal thumb, Brachydactyly, Unicoronal synostosis, Bicoronal synostosis, Craniosynostosis |
OMIM:604757 |
Polycythemia Vera |
|
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... |
OMIM:263300 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Enamel hypoplasia, Ectopia pupillae, Dental malocclusion, Optic atrophy, Clinodactyly, Scarring a... |
OMIM:618727 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger, Shuffling gait |
OMIM:300266 |
7Q11.23 Microduplication Syndrome |
|
Micrognathia, Abnormal optic disc morphology, Short neck, Unsteady gait, Sacral dimple, Horizonta... |
ORPHA:96121 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Micrognathia, Synophrys, Hip dislocation, Camptodactyly, Pes cavus, Short neck, H... |
OMIM:613458 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Contractures of the large joints, Mandibular prognathia, Inability to walk, Abnorma... |
ORPHA:324410 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Lipoma, Hypocalcemic seizures, Chondrocalcinosis, R... |
ORPHA:405 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Aplas... |
ORPHA:3426 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Iris hypopigmentation, Overlapping toe, Short neck, Bilateral talipes equinovarus, ... |
ORPHA:177907 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Cirrhosis, Loss of gluteal subcutaneous adipose tissue, Type II ... |
OMIM:604367 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Optic atrophy, Choreoathetosis, Hyperammonemia, Hepatomegaly, Lethargy, Thrombocytopenia,... |
ORPHA:289916 |
Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Flexion contracture, Small for gestational age, Elevated circulating creatine... |
OMIM:615368 |
Muckle-Wells Syndrome |
|
Camptodactyly of finger, Broad foot, Anemia, Conjunctivitis, Optic atrophy, Arthritis, Hernia of ... |
ORPHA:575 |
Pfeiffer Syndrome |
|
Short middle phalanx of toe, Mandibular prognathia, Finger syndactyly, Humeroradial synostosis, C... |
OMIM:101600 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia of the thumb, Optic atrophy, Abnormal cardiac septum morphology, Abnormal meta... |
ORPHA:1590 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Extrahepatic cholestasis, Increased glucagon level, Abnormality of pancreas physiology, ... |
ORPHA:276152 |
Noonan Syndrome |
|
Melanocytic nevus, Coarse hair, Micrognathia, Radioulnar synostosis, Clinodactyly of the 5th fing... |
ORPHA:648 |
Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Hallux valgus, Delayed skeletal maturation, Enlarged joints, Sparse hair... |
OMIM:601358 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Optic atrophy, Failure to thrive, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenome... |
OMIM:615085 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Short 4th toe, Short lower limbs, Short nail, Cone-shaped epiphyses of the phalanges of... |
ORPHA:420794 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Peters-Plus Syndrome |
|
Broad foot, Decreased body weight, Micrognathia, Biliary tract abnormality, Pes cavus, Iris colob... |
OMIM:261540 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Annular pancreas, Clinodactyly of the 5th finger, De... |
ORPHA:1305 |
Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Flexion contracture, Coxa valga, Hernia, Spastic gait, Abse... |
OMIM:230000 |
Woolly Hair Nevus |
|
Brachydactyly |
ORPHA:79414 |
Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Broad thumb, Atrial septal defect, Brachydactyly |
OMIM:614526 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Vitreous hemorrhage, Reduced hematocrit, Macular edema, Weight loss, Anterior chamber flare, Norm... |
ORPHA:91500 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Normochromic microcytic anemia, Microvesicular hepatic steatosis, Optic atr... |
OMIM:610198 |
Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Mandibular prognathia, Optic atrophy, Delayed eruption of teeth, Microg... |
ORPHA:2067 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cardiomyopathy, Megalocornea, Coloboma, Optic atrophy, Elevated circulating creatine kinase conce... |
ORPHA:370959 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Cardiofaciocutaneous Syndrome |
|
Optic atrophy, Generalized hyperpigmentation, Hypertrophic cardiomyopathy, Short neck, Multiple c... |
ORPHA:1340 |
Colchicine Poisoning |
|
Hypotension, Alopecia, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Congestive ... |
ORPHA:31824 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Patent foramen ovale, Short phalanx of finger, Dental malocclusion, Ventricular se... |
OMIM:616894 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Esophageal neoplasm, Neoplasm of... |
ORPHA:44890 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... |
ORPHA:1788 |
Marshall Syndrome |
|
Sparse eyebrow, Genu valgum, Hypoplastic frontal sinuses, Micrognathia, Vitreoretinopathy, Ectopi... |
ORPHA:560 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal foot morphology, Coronal craniosynostosis, Abnormal metacarpal morphology, Hypoplasia of... |
ORPHA:2095 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... |
ORPHA:99429 |
Diethylstilbestrol Syndrome |
|
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Hyperphosphatemia, Hyperuricemia, Abnormal autonomic nervous sys... |
ORPHA:94093 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Optic atrophy, Recurrent sinusitis, Hepatosplenomegaly, Bone marrow hypocellularity, Panniculitis... |
OMIM:615688 |
Raine Syndrome |
|
Enamel hypoplasia, Mandibular prognathia, Natal tooth, Micrognathia, Long hallux, Increased bone ... |
OMIM:259775 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Abnormal cardiac septum morphology, Abnormality of the gallbladder, Micrognathia, Conge... |
ORPHA:2075 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Retrognathia, Truncal ataxia, Anterior concavity of thoracic vertebrae, Micrognathia, Limb ataxia... |
OMIM:617101 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Cafe-au-lait spot, Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occu... |
OMIM:619227 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Abnormal long bone morphology, Hypovolemia, Glycosuria, Hypophosphatemia, Hy... |
ORPHA:411634 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Generalized joint laxity, Dysdiadochokinesis, Micrognathia, Mildly elevated creatine kinase, Pes ... |
ORPHA:502423 |
Arnold-Chiari Malformation Type I |
|
Gait ataxia, Stiff neck, Abnormality of the eleventh cranial nerve, Cranial nerve compression, Fu... |
ORPHA:268882 |
Dpagt1-Cdg |
|
Flexion contracture, Akinesia, Inability to walk, Optic atrophy, Camptodactyly, Hepatomegaly, Rod... |
ORPHA:86309 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Cataract, Arrhythmia, Hypocalcemia, Abnormal dental enamel morphology |
ORPHA:2238 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Delayed cranial suture closure, Abnormal cardiac septum morphology, Opti... |
ORPHA:1606 |
Dent Disease 1 |
|
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Tibial bowing, Spars... |
OMIM:300009 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Micrognathia, Synophrys, Camptodactyly, Broad hallux, Overlapping toe, Fronta... |
OMIM:612474 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Delayed closure of the anterior fontanelle, Small for gestational age, Micrognathia, Clinodactyly... |
ORPHA:96182 |
Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Anterior wedging of T11, Short 1st metacarpal, Mic... |
OMIM:164745 |
Cousin Syndrome |
|
Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Wrist flexion contracture, Humeroradia... |
OMIM:260660 |
Cerebrofacioarticular Syndrome |
|
Micrognathia, Caudal appendage, Camptodactyly, Ataxia, Hypoplasia of the maxilla, Syndactyly, Abn... |
ORPHA:314679 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Genu valgum, Dentinogenesis imperfecta, Rhizomelia, Generalized joint laxity, F... |
OMIM:613848 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Zonular cataract, Jaundice, Ataxia, Hepatosplenomeg... |
ORPHA:168577 |
Goldberg-Shprintzen Syndrome |
|
Megalocornea, Tapered finger, Ventricular septal defect, Small hand, Corneal erosion, Aganglionic... |
OMIM:609460 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Takenouchi-Kosaki Syndrome |
|
Sparse eyebrow, Dental malocclusion, Tapered finger, Abnormal cardiac septum morphology, Optic at... |
OMIM:616737 |
Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the r... |
OMIM:200980 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Cerebral ischemia, Optic atrophy, Toe syndactyly, Foot polydactyly, Hand polyd... |
ORPHA:60040 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hernia, Abnormal cardiac septum morphology, Micrognathia, Clinodactyly, Syndactyly, Proximal plac... |
OMIM:217980 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Abnormal distal phalanx morpholo... |
ORPHA:2636 |
Down Syndrome |
|
Atrioventricular canal defect, Myeloproliferative disorder, Short palm, Hypoplastic iliac wing, D... |
OMIM:190685 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Rod-cone dystrophy, Hypertension, Broad thumb, Patchy alopecia, Brachydactyly, Corneal dystrophy,... |
OMIM:617763 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Retinopathy, Flexion contracture, Optic atrophy, Hepatosplenomegaly, Pap... |
ORPHA:217085 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Genu valgum, Mandibular prognathia, Hip contracture, Finger joint hypermobility, Kyphosis, Inabil... |
OMIM:618493 |
Woods Syndrome |
|
Ventricular septal defect, Optic atrophy, 3-4 finger cutaneous syndactyly, Frontal hirsutism, Sup... |
OMIM:615236 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Colon... |
OMIM:174900 |
Acrocallosal Syndrome |
|
Tapered finger, Coloboma, Abnormal cardiac septum morphology, Optic atrophy, Toe syndactyly, Dupl... |
OMIM:200990 |
Mucopolysaccharidosis Type 2 |
|
Retinopathy, Optic atrophy, Hip osteoarthritis, Hepatomegaly, Papilledema, Splenomegaly, Flexion ... |
ORPHA:580 |
Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Genu valgum, Hypoplasia of the maxilla, Limb undergrowth, Complete... |
OMIM:619142 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Retinopathy, Flexion contracture, Optic atrophy, Hepatosplenomegaly, Pap... |
ORPHA:217093 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:212140 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Flexion contracture, Micrognathia, Alopecia totalis, Short... |
OMIM:263650 |
Tarp Syndrome |
|
Short sternum, Finger syndactyly, Optic atrophy, Micrognathia, Clinodactyly, Hand polydactyly, Ex... |
ORPHA:2886 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Micrognathia, Bilateral single transverse palmar creases, Short neck, Ab... |
ORPHA:2083 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Hypoplastic frontal sinuses, Short foot, Small han... |
OMIM:300712 |
Pseudoxanthoma Elasticum |
|
Sudden cardiac death, Retinal hemorrhage, Multiple lipomas, Restrictive cardiomyopathy, Retinopat... |
ORPHA:758 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Angelman Syndrome |
|
Hypopigmentation of the skin, Mandibular prognathia, Progressive gait ataxia, Fair hair, Hypoplas... |
OMIM:105830 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Lipomas of eyelids, Coloboma, Widow's peak, Clinodactyly of the 5th finger, Hypop... |
OMIM:167730 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse eyebrow, Ventricular septal defect, Micrognathia, Clinodactyly of the 5th finger, Atrial s... |
OMIM:244450 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Abnormal autonomic nervous sy... |
OMIM:105210 |
Degcags Syndrome |
|
Polydactyly, Premature graying of hair, Toe syndactyly, Micrognathia, Synophrys, Tracheomalacia, ... |
OMIM:619488 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Brachydactyly, Bone cyst, Deep palmar crease |
ORPHA:1752 |
Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Toe syndactyly, Micrognathia, Elbow contracture, Broa... |
OMIM:304120 |
Meier-Gorlin Syndrome 3 |
|
Genu varum, Patellar hypoplasia, Coxa vara, Patellar aplasia, Short ribs, Micrognathia, Slender l... |
OMIM:613803 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Optic atrophy, Angina pectoris, Hypertrophic cardiomyop... |
ORPHA:324 |
Cowden Syndrome 1 |
|
Kyphosis, Angioid streaks of the fundus, Micrognathia, Palmoplantar hyperkeratosis, Lymphopenia, ... |
OMIM:158350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
Corneodermatoosseous Syndrome |
|
Abnormal finger morphology, Abnormal metacarpal morphology, Abnormality of the hand, Brachydactyl... |
ORPHA:3194 |
Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta, Recurrent fractures, Kyphosis, Femoral retroversion, Short metacarpal,... |
OMIM:610915 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, 2-3 toe syndactyly, Absent thumb, Retrognathia, Truncus arteriosus, Ventricular se... |
OMIM:617516 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Broad thumb, Rhizomelia, Mesomelia, Brachydactyly |
ORPHA:171866 |
Say-Barber-Miller Syndrome |
|
Ulnar deviation of the hand or of fingers of the hand, Optic atrophy, Impaired neutrophil chemota... |
ORPHA:3132 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Alopecia, Hyperphosphatemia, Irregular hyperpigmentation, Optic atrophy, Congestive ... |
ORPHA:428 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Synophrys, Broad eyebrow, Hypoplasia of the maxilla, Pes planus |
OMIM:618302 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Micrognathia, Camptodacty... |
OMIM:300373 |
Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ankle clonus, Ventricular septal defect, Pes valgus, Scoliosis, Brachydactyly, Dex... |
OMIM:619995 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
Juvenile Xanthogranuloma |
|
Iritis, Asymmetry of iris pigmentation, Multiple cafe-au-lait spots, Myeloproliferative disorder,... |
ORPHA:158000 |
Nager Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the eyebrow, Hypoplas... |
ORPHA:245 |
Meier-Gorlin Syndrome 5 |
|
Patellar aplasia, Micrognathia, Slender long bone, Clinodactyly, Elbow dislocation, Hypoplasia of... |
OMIM:613805 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Increased carrying angle, Mitral valve prolapse, Brachydactyly |
OMIM:247410 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pericardial effusion, Choroidal neovascularization, Hypophosphatemic ric... |
ORPHA:51608 |
Campomelic Dysplasia |
|
11 pairs of ribs, Tracheobronchomalacia, Recurrent fractures, Kyphosis, Short long bone, Microgna... |
ORPHA:140 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retrognathia, Optic nerve hypoplasia, Adducted thumb, Retinal dysplasia, Elevated circulating cre... |
OMIM:614643 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Multiple lipomas, Lipomas of eyelids, Coloboma, Widow's peak, Clinodactyly of the... |
ORPHA:2399 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Small for gestational age, Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla |
ORPHA:93950 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse body hair, 2-3 toe syndactyly, Conjunctivitis, Ventricular septal defect, Absent eyelashes... |
OMIM:106260 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... |
OMIM:251270 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Optic atrophy, Microretrognathia, Atrial septal defect, Brachydactyly,... |
ORPHA:457193 |
Cowden Syndrome |
|
Melanocytic nevus, Mucosal telangiectasiae, Kyphosis, Enlarged polycystic ovaries, Bone cyst, Ata... |
ORPHA:201 |
Zttk Syndrome |
|
Absent gallbladder, Sparse eyebrow, Curly hair, Flexion contracture, Ventricular septal defect, K... |
OMIM:617140 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Absent fourth finger distal interphalangeal crease, Tip-toe gait, Kyphosis, Joint hypermobility, ... |
OMIM:618050 |
Galloway-Mowat Syndrome 1 |
|
Hand clenching, Hypopigmentation of the skin, Optic atrophy, Joint contracture of the hand, Small... |
OMIM:251300 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Tapered finger, Small hand, Short foot, Fa... |
ORPHA:280633 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Coarse hair, Postaxial hand polydactyly, Sparse hair, Abnormal dental enamel morpho... |
ORPHA:2750 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia, Difficulty walking, Proximal mu... |
ORPHA:99845 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Retrognathia, Optic atrophy, Micrognathia, Laryngotracheomalacia, Dystonic gait, Astigmatism, Sco... |
ORPHA:480898 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Thoracic scoliosis, Ventricular septal defect, Hypoplasia of the thymus, Short long b... |
OMIM:617022 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Retinal dystrophy, Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Severe failure to t... |
ORPHA:423479 |
Elsahy-Waters Syndrome |
|
Dental malocclusion, Agenesis of incisor, Megalocornea, Mandibular prognathia, Cutaneous finger s... |
OMIM:211380 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Coloboma, Optic atrophy, Failure to thrive, Cataract, Hypertric... |
OMIM:612379 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... |
ORPHA:220460 |
Cholera |
|
Hypotension, Palmoplantar cutis laxa, Hypokalemia, Abnormal blood ion concentration, Hypoglycemia... |
ORPHA:173 |
Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Pedal edema, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, ... |
ORPHA:33226 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Foot joint contracture, Abnormality of skin pigmentation, Mucosa... |
ORPHA:220402 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Hypoplasia of the maxilla, Synophrys, Thick eyebrow, Optic atrophy |
OMIM:618737 |
Neuraminidase Deficiency |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:256550 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... |
OMIM:300048 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Optic atrophy, Delayed eruption of teeth, Micrognathia, Synophrys, Elbow flex... |
OMIM:122470 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
Nablus Mask-Like Facial Syndrome |
|
Retrognathia, Sparse eyebrow, Tapered finger, Joint contracture of the hand, Frontal upsweep of h... |
OMIM:608156 |
Mogs-Cdg |
|
Retrognathia, Alopecia, Thoracic scoliosis, Optic atrophy, Fair hair, Absent brainstem auditory r... |
ORPHA:79330 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Camptodactyly, Metatarsus adductus, Spina bifida occulta, Ab... |
ORPHA:500095 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Optic atrophy, Slender long bone, Spina bifida occulta, Joint hyperflexibility, Coarse hair, Cubi... |
ORPHA:1185 |
Sclerosteosis 1 |
|
Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cranial hyperostosis, Optic... |
OMIM:269500 |
Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Coloboma, Micrognathia, Tetraphocomelia, Elbow flexion c... |
OMIM:268300 |
Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... |
ORPHA:585 |
Primrose Syndrome |
|
Flexion contracture, Synophrys, Metatarsus adductus, Pes cavus, Elevated circulating alpha-fetopr... |
OMIM:259050 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Knee flexion contracture, Delayed cranial suture closure, Hypoplastic pubic bone, Hip contracture... |
OMIM:210730 |
Okur-Chung Neurodevelopmental Syndrome |
|
Micrognathia, Synophrys, Clinodactyly of the 5th finger, Ataxia, Joint hypermobility, Broad hallu... |
OMIM:617062 |
Chitayat Syndrome |
|
Hallux valgus, Brachydactyly |
OMIM:617180 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Cl... |
ORPHA:364577 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Decreased body weight, Rod-cone dystrophy, Spastic gait,... |
ORPHA:96180 |
Lead Poisoning |
|
Anemia, Abnormal T cell morphology, Delayed eruption of teeth, Small for gestational age, Abnorma... |
ORPHA:330015 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia |
OMIM:165590 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing ribs, Inguinal he... |
OMIM:271520 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
Necrotizing Enterocolitis |
|
Hypotension, Abnormal glucose homeostasis, Hyperglycemia, Small for gestational age, Peritonitis,... |
ORPHA:391673 |
Cowden Syndrome 5 |
|
Kyphosis, Angioid streaks of the fundus, Micrognathia, Palmoplantar hyperkeratosis, Hypoplasia of... |
OMIM:615108 |
Isotretinoin-Like Syndrome |
|
Conotruncal defect, Bicuspid aortic valve, Micrognathia, Lymphopenia, Inguinal hernia, Aortic val... |
ORPHA:2306 |
Carpenter Syndrome 2 |
|
Camptodactyly, Supernumerary nipple, Short neck, Talipes equinovarus, Tricuspid regurgitation, At... |
OMIM:614976 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:614841 |
Bohring-Opitz Syndrome |
|
Coloboma, Abnormal cardiac septum morphology, Inability to walk, Optic atrophy, Micrognathia, Ret... |
ORPHA:97297 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Optic atrophy, Truncal ataxia, Synophrys, Reduced su... |
ORPHA:3455 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Short ribs, Micromelia, Abnormal diaphysis morphology, Brachydactyly, Ab... |
ORPHA:2021 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
3Q29 Microdeletion Syndrome |
|
Subvalvular aortic stenosis, Pulmonary arterial hypertension, Abnormality of skin pigmentation, T... |
ORPHA:65286 |
Kleefstra Syndrome 1 |
|
Tracheobronchomalacia, Mandibular prognathia, Conotruncal defect, Natal tooth, Synophrys, Single ... |
OMIM:610253 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi... |
OMIM:179800 |
Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Synophrys, Thick eyebrow, Frontal balding, Short neck, Hirsutism, Brachyd... |
ORPHA:247768 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal defect, Micrognathia, Proxi... |
OMIM:236680 |
Orofaciodigital Syndrome Type 6 |
|
Foot polydactyly, Micrognathia, Mesoaxial polydactyly, Hand polydactyly, Gait disturbance, Ataxia... |
ORPHA:2754 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hand clenching, Flexion contracture, Limited hip extension, Ventricular septa... |
OMIM:614653 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Hyperhomocystinemia, Hypoglycemia, Subdural hemorrhage, Thrombocytopenia, Lethargy... |
ORPHA:79282 |
Arboleda-Tham Syndrome |
|
Optic atrophy, Secundum atrial septal defect, Short hallux, Freckling, Genu valgum, Ventricular s... |
OMIM:616268 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Flexion contracture, Ventricular septal defect, Hyperextensibility of the finger joints, Microgna... |
OMIM:309520 |
Craniolenticulosutural Dysplasia |
|
Punctate cataract, Delayed closure of the anterior fontanelle, Optic atrophy, Brittle hair, Poste... |
OMIM:607812 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopi... |
OMIM:158330 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Biliary cirrhosis, Decreased body weight, Abnormal circ... |
ORPHA:2298 |
Hereditary Renal Hypouricemia |
|
Increased blood urea nitrogen, Back pain, Hypouricemia |
ORPHA:94088 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Flexion contracture, Kyphosis, Inability to walk, Optic atrophy, Motor axonal neuro... |
OMIM:609541 |
Cenani-Lenz Syndrome |
|
Synostosis of carpal bones, Radioulnar synostosis, Hip dislocation, Synostosis of joints, Elbow d... |
ORPHA:3258 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Avascular necrosis, Recurrent fractures, Optic atrophy, Corneal erosio... |
ORPHA:1764 |
Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Biventricular hypertrophy, Uni... |
OMIM:618280 |
Noonan Syndrome 1 |
|
Micrognathia, Amegakaryocytic thrombocytopenia, Hypertrophic cardiomyopathy, Short neck, Radial d... |
OMIM:163950 |
Roifman-Chitayat Syndrome |
|
Short metacarpal, Optic atrophy, Arthritis, Short neck, Osteopenia, Short metatarsal, Cone-shaped... |
OMIM:613328 |
Cowden Syndrome 6 |
|
Kyphosis, Angioid streaks of the fundus, Micrognathia, Palmoplantar hyperkeratosis, Hypoplasia of... |
OMIM:615109 |
Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Cachexia, Hypert... |
OMIM:610965 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Conjunctival icterus, Hepatomegal... |
ORPHA:57777 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Megalocornea, Tapered finger, Camptodactyly, Long eyelashes, Breast hypoplasia, Cataract, Scolios... |
OMIM:601353 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Pes cavus, Juvenile cataract, Axonal degenera... |
ORPHA:909 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Coronal craniosynostosis, Low posterior hairline, Widow's peak, Clinodactyly of t... |
OMIM:304110 |
Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Sagittal craniosynostosis, Cirrhosis, Rhizomelia, Micrognathia, Hypoplasia of... |
OMIM:614099 |
Digeorge Syndrome |
|
Hypoplasia of the thymus, Truncus arteriosus, Patellar dislocation, Micrognathia, Recurrent sinus... |
OMIM:188400 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Pancreatitis, Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Flexion contracture, Optic atrophy, Aganglionic megacolon, Clinodactyly of the 5th finger... |
ORPHA:847 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Distal upper limb muscle weakness, Developmental glaucoma, Tip-toe gait, Inability to walk, Arefl... |
ORPHA:99956 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Optic atrophy, Patchy sclerosis of finger phalanx, Facial hyperostosis, Cl... |
OMIM:218400 |
Osteoporosis-Pseudoglioma Syndrome |
|
Severe platyspondyly, Absent anterior chamber of the eye, Vitreoretinopathy, Increased susceptibi... |
OMIM:259770 |
Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Coxa valga, Micrognathia, Hip dislocation, Elbow dislocation, Short neck... |
ORPHA:3107 |
Halperin-Birk Syndrome |
|
Flexion contracture, Inability to walk, Perimembranous ventricular septal defect, Optic atrophy, ... |
OMIM:618651 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Retrognathia, Hand clenching, Flexion contracture, Hip contracture, Optic atrophy, Elbow flexion ... |
OMIM:617301 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Friedreich Ataxia |
|
Gait ataxia, Gait imbalance, Falls, Inability to walk, Areflexia of lower limbs, Abnormal foot mo... |
ORPHA:95 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Anemia, Flexion contracture, Reduced subcutaneous adipose tissue, Secundum... |
OMIM:609069 |
Velocardiofacial Syndrome |
|
Retrognathia, Ventricular septal defect, Posterior embryotoxon, Retinal vascular tortuosity, Ingu... |
OMIM:192430 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Abnormal metacarpal morphology, Atrial septal defec... |
ORPHA:2473 |
Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Midline central nervous system lipomas, Pre... |
ORPHA:1827 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis, Micrognathia, Atrial septal defect, Hypoplasia of the maxilla, Malar fl... |
OMIM:241310 |
Grange Syndrome |
|
Coronary artery stenosis, Bicuspid aortic valve, Syndactyly, Brachydactyly, Finger clinodactyly |
OMIM:602531 |
Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, High anterior hairline, Sparse scalp hair, Abnormal finger morph... |
ORPHA:404448 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Flexion contracture, Optic atrophy, Calf muscle hypertrophy, Spinal rigidity, Dilated cardiomyopa... |
OMIM:253800 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Increased size of nasopharyngeal adenoids, Atrial septal defect, Persi... |
OMIM:619769 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Optic atrophy, Fair hair, Positional foot deformity, Pes cavus, Slender build, Vitiligo, Sacral d... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Optic atrophy, Fair hair, Positional foot deformity, Pes cavus, Slender build, Vitiligo, Sacral d... |
ORPHA:363958 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia, Athetosis |
ORPHA:621 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia of the pectoralis major muscle, Micrognathia, Ulnar deviation of finger, Hypertensive cri... |
ORPHA:1358 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Anemia, Complete duplication of thumb phalanx, Abnormality of skin pigmentation, Re... |
OMIM:227650 |
3Mc Syndrome 2 |
|
Limited elbow movement, Caudal appendage, Hip dislocation, Abnormal vertebral morphology, Radioul... |
OMIM:265050 |
Birk-Landau-Perez Syndrome |
|
Optic atrophy, Choreoathetosis, Hyperkalemia, Hypertension, Camptocormia, Limb ataxia, Long eyela... |
OMIM:617595 |
Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Micrognathia, Slender long bone, Hypoplasia of the maxilla, Failure to thrive, ... |
OMIM:613804 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Neuroocular Syndrome |
|
Tapered finger, Synophrys, Lens coloboma, Iris coloboma, Peters anomaly, Blue irides, Distichiasi... |
OMIM:619539 |
Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
Geleophysic Dysplasia 3 |
|
Limited elbow movement, Epiphyseal dysplasia, Limb undergrowth, Limited wrist movement, Hepatomeg... |
OMIM:617809 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Kyphosis, Cerebral hemorrhage, Angioid streaks of the fundus, Mitral valve pr... |
OMIM:177850 |
Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Kyphosis, Prolonged neonatal jaundice, Normocytic anemia, Jaundice, Congestive ... |
OMIM:615512 |
Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Coloboma, Pericardial effusion, Micrognathia, Hypomagnesemia, Hyponatremia, Hypocalcemia, Hypertr... |
OMIM:618183 |
Porphyria, Congenital Erythropoietic |
|
Osteolysis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Alopecia, Hyperpigmentation of the skin... |
OMIM:263700 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Cachexia, Hepatosplenomegaly, Pes cavus, Thrombo... |
ORPHA:2072 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Short toe, Abnormality of the cervical spine, Ventricular septal defect, Kyphosis, Tapered finger... |
ORPHA:464311 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hyperphosphatemia, Hypocalcemia, Cataract, Hypocalcemic seizures |
OMIM:146200 |
Crouzon Syndrome |
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Conjunctivitis, Sagittal craniosynostosis, Mandibular prognathia, Abnormality of the cervical spi... |
OMIM:123500 |
Pseudoxanthoma Elasticum |
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Retinal hemorrhage, Restrictive cardiomyopathy, Optic disc drusen, Retinal peau d'orange, Angioid... |
OMIM:264800 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Polydactyly, Hallux valgus, Multiple joint contractures, Toe syndactyly, Acromesomelia, Ventricul... |
ORPHA:464306 |
Distal Monosomy 19P13.3 |
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Alopecia, Pulmonary valve atresia, Ventricular septal defect, Keloids, Vaginal hernia, Hypoplasia... |
ORPHA:96129 |
Rapp-Hodgkin Syndrome |
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Sparse eyebrow, Enamel hypoplasia, Taurodontia, Supernumerary nipple, Fine hair, Decreased number... |
OMIM:129400 |
Floating-Harbor Syndrome |
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Ivory epiphyses of the distal phalanges of the hand, Short middle phalanx of the 2nd finger, Disl... |
OMIM:136140 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Sparse eyebrow, Optic atrophy, Motor axonal neuropathy, Micrognathia, Ataxia, Elevated circulatin... |
ORPHA:496641 |
Alpha-Mannosidosis, Adult Form |
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Ataxia, Pancytopenia, Aortic regurgitation, Hepatosplenomegaly, Cataract, Osteopenia, Corneal opa... |
ORPHA:309288 |
Perrault Syndrome 6 |
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Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Flexion contracture, Tapered finger, Small hand, Optic atrophy, Small for gestational age, Microg... |
OMIM:309590 |
Gaucher Disease, Type Iiic |
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Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
Maternal Phenylketonuria |
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Bifid distal phalanx of the thumb, Double outlet right ventricle, Ventricular septal defect, Micr... |
ORPHA:2209 |
Hypoglossia-Hypodactyly Syndrome |
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Finger syndactyly, Aplasia/Hypoplasia of fingers, Micrognathia, Upper limb phocomelia, Adactyly, ... |
ORPHA:989 |
Ear-Patella-Short Stature Syndrome |
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Camptodactyly of finger, Retrognathia, Mandibular aplasia, Aplastic clavicle, Patellar aplasia, M... |
ORPHA:2554 |
Hypoparathyroidism, Familial Isolated, 2 |
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Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Scleroderma |
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Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... |
ORPHA:801 |
Floating-Harbor Syndrome |
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Dislocated radial head, Short neck, Delayed skeletal maturation, Enlarged joints, Abnormal anteri... |
ORPHA:2044 |
Robinow Syndrome, Autosomal Dominant 1 |
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Delayed eruption of teeth, Micrognathia, Dislocated radial head, Short neck, Radial deviation of ... |
OMIM:180700 |
Hsd10 Disease, Infantile Type |
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Hypertrophic cardiomyopathy, Cardiomegaly, Optic atrophy |
ORPHA:391428 |
Plaa-Associated Neurodevelopmental Disorder |
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Contractures of the large joints, Kyphosis, Hyperextensibility of the finger joints, Optic atroph... |
ORPHA:521426 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Preaxial hand polydactyly, Micrognathia, Atrial septal defect, Hypoplasia of the maxilla, Malar f... |
ORPHA:79113 |
Hypocalcemia, Autosomal Dominant 1 |
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Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Systemic Sclerosis |
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Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... |
ORPHA:90291 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
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Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles |
OMIM:264270 |
Treacher-Collins Syndrome |
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Retrognathia, Hypoplasia of the thymus, Absent eyelashes, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:861 |
Spondylospinal Thoracic Dysostosis |
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Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Arthrogryposis multiplex congenita |
OMIM:601809 |
Infection-Related Hemolytic Uremic Syndrome |
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Septic arthritis, Brain abscess, Hemolytic anemia, Hyperkalemia, Hypertension, Hypertensive crisi... |
ORPHA:544482 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Camptodactyly of finger, Delayed closure of the anterior fontanelle, Short 5th finger, Optic atro... |
OMIM:607872 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Decreased body weight, Coloboma, Melanocytic nevus, Synophrys, Broad eyebrow, Hepatic steatosis, ... |
OMIM:619475 |
Erythrocytosis, Familial, 2 |
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Pulmonary arterial hypertension, Hypotension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
Radio-Renal Syndrome |
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Retrognathia, Abnormality of the elbow, Hypoplasia of the radius, Micrognathia, Brachydactyly, Sh... |
ORPHA:3015 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Congenital pyloric atresia |
ORPHA:2617 |
15q26 overgrowth syndrome |
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Camptodactyly of finger, High anterior hairline, Mandibular prognathia, Tapered finger, Abnormal ... |
DECIPHER:81 |
Kinsship Syndrome |
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Sacral dimple, Polydactyly, Mandibular prognathia, Coxa valga, Micrognathia, Synophrys, Hip dislo... |
OMIM:619297 |
Mesomelia-Synostoses Syndrome |
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Short phalanx of finger, Progressive forearm bowing, Ulnar deviation of the hand or of fingers of... |
OMIM:600383 |
Pantothenate Kinase-Associated Neurodegeneration |
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Toe extensor amyotrophy, Rod-cone dystrophy, Tip-toe gait, Optic atrophy, Retinal degeneration, C... |
ORPHA:157850 |
Lipodystrophy, Familial Partial, Type 2 |
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Reduced subcutaneous adipose tissue, Hepatic steatosis, Hirsutism, Increased intraabdominal fat, ... |
OMIM:151660 |
Bartsocas-Papas Syndrome |
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Popliteal pterygium, Synostosis of joints |
ORPHA:1234 |
Refsum Disease, Classic |
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Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Kyphomelic Dysplasia |
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Short metacarpal, Radial bowing, Micrognathia, Flat acetabular roof, Ulnar bowing, Short femur, F... |
OMIM:211350 |
Mody |
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Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Retinopathy, Diabetic ketoacidosis, ... |
ORPHA:552 |
Charcot-Marie-Tooth Disease Type 4C |
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Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Inability to walk, Neuropath... |
ORPHA:99949 |
Schinzel-Giedion Midface Retraction Syndrome |
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Hepatoblastoma, Thickened cortex of long bones, Short neck, Postaxial hand polydactyly, Sclerosis... |
OMIM:269150 |
Friedreich Ataxia |
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Gait ataxia, Optic atrophy, Areflexia of lower limbs, Abnormal EKG, Decreased amplitude of sensor... |
OMIM:229300 |
Dubin-Johnson Syndrome |
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Abnormal gastric mucosa morphology |
ORPHA:234 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
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Retinal hemorrhage, Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosit... |
OMIM:611773 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat... |
OMIM:276820 |
Idiopathic Aplastic Anemia |
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Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Gingival blee... |
ORPHA:88 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
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Absent eyelashes, Clinodactyly of the 5th finger, Microretrognathia, Hypoplasia of the maxilla, T... |
ORPHA:228396 |
Cerebrotendinous Xanthomatosis |
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Ankle clonus, Abnormality of central somatosensory evoked potentials, Abnormal circulating choles... |
OMIM:213700 |
Phocomelia, Schinzel Type |
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Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing, Micrognathia... |
ORPHA:2879 |
Baller-Gerold Syndrome |
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Absent thumb, Aplasia of metacarpal bones, Optic atrophy, Micrognathia, Short humerus, Aphalangy ... |
OMIM:218600 |
Fanconi Anemia, Complementation Group D2 |
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Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly, Complete duplication of t... |
OMIM:227646 |
Witteveen-Kolk Syndrome |
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Medial flaring of the eyebrow, Toe syndactyly, Overlapping toe, Iris coloboma, Radial deviation o... |
OMIM:613406 |
Johanson-Blizzard Syndrome |
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Fair hair, Delayed skeletal maturation, Hypoplasia of the primary teeth, Increased VLDL cholester... |
OMIM:243800 |
Tetraamelia-Multiple Malformations Syndrome |
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Optic atrophy, Septo-optic dysplasia, Micrognathia, Missing ribs, Tetraamelia, Microcornea, Aplas... |
ORPHA:3301 |
Hemifacial Hyperplasia |
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Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Ayme-Gripp Syndrome |
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Delayed cranial suture closure, Sparse scalp hair, Tapered finger, Mandibular prognathia, Craniof... |
OMIM:601088 |
Pseudohypoparathyroidism Type 2 |
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Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Prolonged QT interval, Hypocalcemic seizures,... |
ORPHA:94090 |
Carnitine Palmitoyltransferase I Deficiency |
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Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Knee flexion contracture, Kyphosis, Optic atrophy, Micrognathia, Lymphopenia, Ataxia, Dysmetria, ... |
OMIM:619708 |
Mandibulofacial Dysostosis With Alopecia |
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Alopecia, Delayed eruption of primary teeth, Bicuspid aortic valve, Micrognathia, Hypoplasia of t... |
OMIM:616367 |
Renal And Mullerian Duct Hypoplasia |
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Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus |
OMIM:266810 |
X-Linked Intellectual Disability, Porteous Type |
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Hypoplasia of the maxilla, Frontal balding, Mandibular prognathia, Decreased body weight |
ORPHA:93945 |
Developmental And Epileptic Encephalopathy 100 |
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Gait ataxia, Bilateral camptodactyly, Enamel hypoplasia, Small hand, Micrognathia, Synophrys, Cho... |
OMIM:619777 |
Loeys-Dietz Syndrome 2 |
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Micrognathia, Camptodactyly, Bicuspid pulmonary valve, Talipes equinovarus, Protrusio acetabuli, ... |
OMIM:610168 |
Thakker-Donnai Syndrome |
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Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tetralogy ... |
ORPHA:1780 |
Hepatoportal Sclerosis |
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Esophageal varix, Gastrointestinal hemorrhage, Hepatocellular carcinoma, Gastric varix |
ORPHA:64743 |
Saethre-Chotzen Syndrome |
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Delayed cranial suture closure, Hallux valgus, Partial duplication of the distal phalanx of the 3... |
OMIM:101400 |
Osteopetrosis, Autosomal Recessive 7 |
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Anemia, Optic nerve compression, Optic atrophy, Abnormal trabecular bone morphology, Osteopetrosi... |
OMIM:612301 |
Craniotubular Dysplasia, Ikegawa Type |
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Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Thin bony cortex, Vent... |
OMIM:619727 |
Charge Syndrome |
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Abnormal cardiac septum morphology, Optic atrophy, Delayed eruption of teeth, Abnormal aortic val... |
ORPHA:138 |
Orofaciodigital Syndrome I |
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Pancreatic cysts, Polydactyly, Alopecia, Dry hair, Enamel hypoplasia, Hepatic fibrosis, Clinodact... |
OMIM:311200 |
Dilated Cardiomyopathy With Ataxia |
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Normochromic microcytic anemia, Microvesicular hepatic steatosis, Optic atrophy, Dilated cardiomy... |
ORPHA:66634 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Long eyelashes, Neonatal hypoglycemia, Delayed skeletal maturation, Broad lateral eyebrow, Brachy... |
OMIM:608624 |
Pseudohypoparathyroidism, Type Ii |
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Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Meester-Loeys Syndrome |
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Joint dislocation, Mitral valve prolapse, Camptodactyly, Bruising susceptibility, Brachydactyly, ... |
OMIM:300989 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Gait ataxia, Torsade de pointes, Elevated circulating acylcarnitine concentration, Optic atrophy,... |
OMIM:616878 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Ventricular septal defect, Small hand, Optic atrophy, Optic disc pallor, Wolff-Parkinson-White sy... |
OMIM:614947 |
Leber Congenital Amaurosis |
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Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Gapo Syndrome |
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Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Optic atrophy, Microg... |
OMIM:230740 |
Ethylene Glycol Poisoning |
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Hypotension, Hyperkalemia, Hypertension, Congestive heart failure, Ataxia, Shock, Prolonged QT in... |
ORPHA:31826 |
Peters Plus Syndrome |
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Abnormal cardiac septum morphology, Optic atrophy, Toe syndactyly, Micrognathia, Spina bifida occ... |
ORPHA:709 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Rift Valley Fever |
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Retinal hemorrhage, Back pain, Anemia, Macular edema, Hepatitis, Jaundice, Abnormal bleeding, Ret... |
ORPHA:319251 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Sparse eyebrow, Dental malocclusion, Flexion contracture, Tapered finger, Optic atrophy, Synophry... |
ORPHA:487796 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent thumb, Ischemic stroke, Optic atrophy, Optic nerve hypoplasia, Hyperextensibility at elbow... |
ORPHA:500150 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Optic disc coloboma, Retrognathia, Short metacarpal, Frontal hirsutism, Failure to... |
OMIM:617157 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:201475 |
Acrofacial Dysostosis, Cincinnati Type |
|
Flared lower limb metaphysis, Retrognathia, Decreased body weight, Micrognathia, Acetabular dyspl... |
OMIM:616462 |
Distal Monosomy 9P |
|
Hernia, Brachydactyly |
ORPHA:1642 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Micrognathia, Camptodactyly, Hepatoblastoma, Overlapping toe, Short ne... |
ORPHA:798 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Abnormality of the cervical spine, Abnormality of the vertebral spinous pr... |
ORPHA:1299 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anterior chamber synechiae, Microcornea, Hypoplasia of the maxilla, Inguin... |
OMIM:601499 |
Microphthalmia With Linear Skin Defects Syndrome |
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Mandibular aplasia, Abnormal cardiac septum morphology, Micrognathia, Hypertrophic cardiomyopathy... |
ORPHA:2556 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tapered finger, Brachydactyly |
OMIM:619680 |
Duodenal Neuroendocrine Tumor |
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Hypotension, Extrahepatic cholestasis, Increased hematocrit, Cardiogenic shock, Intestinal carcin... |
ORPHA:100076 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hyperphosphatemia, Sinus tachycardia, Abnormal pulse pressure, ST s... |
ORPHA:466650 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Microgastria-Limb Reduction Defect Syndrome |
|
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi... |
ORPHA:2538 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Macular edema, Punctate vasculitis skin lesions, Retinal exud... |
OMIM:192315 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Optic atrophy, Cardiomyopathy |
OMIM:619259 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Micromelia, Hypop... |
ORPHA:3144 |
Oculo-Palato-Cerebral Syndrome |
|
Small hand, Leukocoria, Joint hypermobility, Remnants of the hyaloid vascular system, Cataract, R... |
ORPHA:2714 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Wolff-Parkinson-White syndrome, Shortened PR interval, Hypoglycemia, Hepatomegaly,... |
ORPHA:137675 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... |
OMIM:613195 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ... |
ORPHA:3109 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Sparse eyebrow, Hypoplasia of the frontal bone, Widow's peak, Pectoral m... |
ORPHA:306542 |
Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Joint dislocation, Ataxia, Subdural hemorrhage, Fasting hypoglycemia, Athetosis |
ORPHA:25 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Short palm, Brachydactyly |
ORPHA:3217 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... |
OMIM:609049 |
Congenital Tracheal Stenosis |
|
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... |
ORPHA:141127 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Congenital giant melanocytic nevus |
OMIM:137550 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
Porphyria |
|
Abnormal circulating porphyrin concentration, Abnormality of skin pigmentation, Dupuytren contrac... |
ORPHA:738 |
Sandhoff Disease |
|
Orthostatic hypotension, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Pseudopapilledema, Aplasia of the uterus, Septate vagina, Aplasia of the vagina, Uterus didelphys |
OMIM:146255 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Type A brachydactyly, Postaxial hand po... |
OMIM:620107 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Abnormality of skin pigmentation, Corneal erosion, Absent eyelashes, Toe... |
ORPHA:920 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A... |
OMIM:618858 |
Granulomatosis With Polyangiitis |
|
Conjunctivitis, Retinal hemorrhage, Weight loss, Granulomatosis, Diffuse alveolar hemorrhage, Sin... |
OMIM:608710 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Genu valgum, Flexion contracture, Optic atrophy, Generalized hypopigmentation, Azotemia... |
OMIM:619321 |
Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Short 4th metacarpal, Toe syndactyly, Hip dislocation, Overlapping... |
ORPHA:672 |
Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Alkaptonuria |
|
Irregular hyperpigmentation, Joint dislocation, Thickened Achilles tendon, Abnormality of skin pi... |
ORPHA:56 |
Barber-Say Syndrome |
|
Sparse eyebrow, Dental malocclusion, Low anterior hairline, Mandibular prognathia, Delayed erupti... |
OMIM:209885 |
Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ve... |
ORPHA:75565 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent foramen ovale, Ventricular septal defect, Coloboma, Optic atrophy, Micrognathia, Hip dyspl... |
OMIM:616975 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Aplasia of the uterus, Abnormal heart morphology, Septate vagina, Uterus didelphys |
ORPHA:2237 |
Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Rod-cone dystrophy, Papilledema, Preaxial foot polydactyly, Retinal vascular ... |
OMIM:619471 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Abnormality of the upper limb, Abnormality of skin pigmentation, Mic... |
ORPHA:1052 |
Dyskeratosis Congenita, X-Linked |
|
Conjunctivitis, Acute myeloid leukemia, Leukopenia, Anemia, Alopecia, Cirrhosis, Optic atrophy, P... |
OMIM:305000 |
Lumbar Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... |
ORPHA:83628 |
Primary Hyperoxaluria |
|
Retinopathy, Recurrent fractures, Arterial occlusion, Optic atrophy, Optic disc pallor, Intermitt... |
ORPHA:416 |
Xeroderma Pigmentosum |
|
Alopecia, Telangiectasia, Melanocytic nevus, Optic atrophy, Craniofacial hyperostosis, Pterygium,... |
ORPHA:910 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
Hermansky-Pudlak Syndrome 8 |
|
Iris transillumination defect, Ocular albinism, Albinism, Generalized hypopigmentation, Bruising ... |
OMIM:614077 |
Doors Syndrome |
|
Short 5th finger, Optic atrophy, Spina bifida occulta, Sirenomelia, Cutaneous syndactyly, Double ... |
ORPHA:79500 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Retrognathia, Patent foramen ovale, Anemia, High anterior hairline, Ventricular septal defect, In... |
ORPHA:438213 |
Norrie Disease |
|
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Cac... |
ORPHA:649 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplastic sacrum, Sparse eyebrow, Sparse scalp hair, Generalized hypopigmentation, Toe syndacty... |
OMIM:604292 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Finger syndactyly, Coarse hair, Micrognathia, Widow's peak, Clinodactyly of the 5th fin... |
ORPHA:1974 |
Toriello-Lacassie-Droste Syndrome |
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Abnormal conjunctiva morphology, Aganglionic megacolon, Limbal dermoid, Generalized hyperpigmenta... |
ORPHA:3339 |
Tempi Syndrome |
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Increased hematocrit, Polycythemia, Telangiectasia, Intracranial hemorrhage |
ORPHA:284227 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hemolytic anemia, Peripapillary atrophy... |
OMIM:175780 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ambiguous genitalia, male... |
ORPHA:90793 |
Acquired Methemoglobinemia |
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Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly |
OMIM:618886 |
You-Hoover-Fong Syndrome |
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Clinodactyly, Brachydactyly |
OMIM:616954 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Knee flexion contracture, Cirrhosis, Flexion contracture, Hip contracture, Microvesicular hepatic... |
OMIM:300868 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Flexion contracture, Short long bone, Bowed humerus, Brachydactyly, Trident pelvis, Short humerus |
OMIM:619479 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Atrioventricular canal defect, Splenomegaly, Short long bone, Short ribs, Brachydactyly, Hepatome... |
OMIM:617088 |
Ring Chromosome 7 Syndrome |
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Genu valgum, Abnormality of skin pigmentation, Short 5th finger, Small hand, Cafe-au-lait spot, H... |
ORPHA:1449 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
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Contracture of thumb, Tapered finger, Hallux valgus, Optic atrophy, Retinal dystrophy, Flexion co... |
ORPHA:324540 |
Hypohidrotic Ectodermal Dysplasia |
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Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... |
ORPHA:238468 |
Specc1L-Related Hypertelorism Syndrome |
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Short toe, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger, Atrial s... |
ORPHA:1519 |
Metachromatic Leukodystrophy |
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Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... |
ORPHA:512 |
Naxos Disease |
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Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Microphthalmia, Syndromic 6 |
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Retrognathia, Polydactyly, Contracture of thumb, Finger syndactyly, Coloboma, Toe syndactyly, Mic... |
OMIM:607932 |
Leigh Syndrome With Nephrotic Syndrome |
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Cardiomegaly |
ORPHA:255249 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Retinal pigment epithelial atrophy, Anemia, Retinal atrophy, Elliptocytosis, Decreased serum iron... |
OMIM:616959 |
Monosomy 13Q14 |
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Retinoblastoma, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of... |
ORPHA:1587 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Pancreatic hypoplasia, Lower-limb joint contracture, Neonatal insulin-dependent diabetes mellitus... |
ORPHA:99885 |
Genitopatellar Syndrome |
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Short phalanx of finger, Knee flexion contracture, Sparse scalp hair, Hip contracture, Patellar d... |
OMIM:606170 |
Thymoma |
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Weight loss, Leukemia, Rheumatoid arthritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pu... |
ORPHA:99867 |
Meckel Syndrome |
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Pancreatic cysts, Asplenia, Preaxial hand polydactyly, Optic atrophy, Aplasia/Hypoplasia of the i... |
ORPHA:564 |
Goodpasture Syndrome |
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Increased blood urea nitrogen, Pulmonary hemorrhage, Anemia, Weight loss |
OMIM:233450 |
Craniosynostosis And Dental Anomalies |
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Short phalanx of finger, 2-3 toe syndactyly, Sagittal craniosynostosis, Dental malocclusion, Mand... |
OMIM:614188 |
Fucosidosis |
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Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Thymic Aplasia |
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Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Atypical or prolonged h... |
ORPHA:83471 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Limb pain, Abnormal left ventricular function, Palpitations, Hypertensi... |
ORPHA:892 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Precocious puberty, Ventricular septal defect, Labial hypertrophy, Hepatomegaly, Cryptorchidism, ... |
ORPHA:96191 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Syndactyly, Apla... |
ORPHA:1521 |
Craniofacial Microsomia |
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Genu valgum, Vertebral hypoplasia, Ventricular septal defect, Block vertebrae, Micrognathia, Limb... |
OMIM:164210 |
Coloboma, Ocular, Autosomal Dominant |
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Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... |
OMIM:120200 |
Autosomal Dominant Optic Atrophy And Cataract |
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Optic atrophy, Areflexia of lower limbs, Cerulean cataract, Ataxia, Abnormal thumb morphology, Pe... |
ORPHA:67036 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Ambiguou... |
ORPHA:168558 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
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Alopecia, Abnormality of skin pigmentation, Ataxia, Failure to thrive, Bone marrow hypocellularit... |
OMIM:616353 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
Erythrocytosis, Familial, 4 |
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Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Adams-Oliver Syndrome 1 |
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Ventricular septal defect, Toe syndactyly, Bicuspid aortic valve, Atrial septal defect, Hypoplast... |
OMIM:100300 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Ambiguou... |
ORPHA:289548 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Abnormal autonomic nervous system physiology, Accelerated skeletal maturation, Hyperkalemia, Gang... |
ORPHA:293987 |
Kindler Epidermolysis Bullosa |
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Camptodactyly of finger, Conjunctivitis, Anemia, Flexion contracture, Short 4th metacarpal, Finge... |
ORPHA:2908 |
Alström Syndrome |
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Cone/cone-rod dystrophy, Recurrent sinusitis, Myocardial fibrosis, Hepatosplenomegaly, Dorsocervi... |
ORPHA:64 |
Neurocardiofaciodigital Syndrome |
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Retrognathia, Polydactyly, Sparse eyebrow, Optic disc pallor, Small for gestational age, Atrial s... |
OMIM:619869 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Full Nf2-Related Schwannomatosis |
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Bilateral vestibular schwannoma, Retinal hamartoma, Epiretinal membrane, Hyperpigmentation of the... |
ORPHA:637 |
Trichinellosis |
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Central retinal artery occlusion, Retinal hemorrhage, Conjunctivitis, Anisocoria, Abnormal optic ... |
ORPHA:863 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Talipes calcaneovalgus, Genu valgum, Tapered finger, Optic atrophy, Micrognathia, Clinodactyly, P... |
OMIM:309580 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Truncal ataxia, Micrognathia, Hypertrophic cardiomyopathy, Hypoglycemia, Hirsutism, Left ventricu... |
OMIM:220111 |
Visceral Steatosis, Congenital |
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Neonatal death, Jaundice, Abnormal bleeding, Hepatic steatosis, Hypoglycemia, Myocardial steatosi... |
OMIM:228100 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Sparse eyebrow, Sparse scalp hair, Generalized hypopigmentation, Toe syndactyly, Fair hair, Spars... |
OMIM:129900 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
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Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:308552 |
Sickle Cell Disease |
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Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:603903 |
Gaucher Disease, Perinatal Lethal |
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Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:608013 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Sudden cardiac death, Hypocalcemic tetany, Pericardial effusion, Congestive heart failure, Dilate... |
ORPHA:73224 |
Adrenomyeloneuropathy |
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Back pain, Abnormality of skin pigmentation, Abnormality of central somatosensory evoked potentia... |
ORPHA:139399 |
Acrofrontofacionasal Dysostosis 1 |
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Mandibular prognathia, Optic atrophy, Short metacarpal, Widow's peak, Long eyebrows, Long eyelash... |
OMIM:201180 |
Retinoblastoma |
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Retinoblastoma, Vitreous hemorrhage, Retinal calcification, Vitritis, Leukocoria, Leukemia |
OMIM:180200 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Congenital Disorder Of Glycosylation, Type It |
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Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy |
OMIM:614921 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Synophrys, Obesity, Pes valgus, Brachydactyly, Thick eyebrow, Single transverse palmar crease, Hi... |
ORPHA:466950 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Patent foramen ovale, Tapered finger, Clinodactyly of the 5th finger, Brachydactyly, Short thumb |
ORPHA:477993 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Mandibular prognathia, Breast aplasia, Sparse pubic hair, Type I diabetes mellitus, Eunuchoid hab... |
ORPHA:3044 |
Axenfeld-Rieger Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology, Posterior embryotoxon, Hypo... |
ORPHA:782 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Pulmonary insufficiency, Micrognathia, Prominence of the premaxilla, Joint hypermobility, Inguina... |
OMIM:614437 |
Townes-Brocks Syndrome 2 |
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Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Beckwith-Wiedemann Syndrome |
|
Gonadoblastoma, Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cryptorchidism, Cardiomega... |
OMIM:130650 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... |
OMIM:202010 |
Cleft Lip/Palate |
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Dental malocclusion, Agenesis of lateral incisor, Peg-shaped maxillary lateral incisors, Abnormal... |
ORPHA:199306 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy |
ORPHA:228308 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage, Retinal arteriolar tortuosity |
OMIM:180000 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Anemia, Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics, Failure to t... |
OMIM:620040 |
Hyperoxaluria, Primary, Type I |
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Retinopathy, Arterial occlusion, Optic atrophy, Increased bone mineral density, Raynaud phenomeno... |
OMIM:259900 |
Meckel Syndrome 14 |
|
Single ventricle, Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Synophrys, Obesity, Pes valgus, Astigmatism, Single transverse palmar crease, Brachydactyly, Shor... |
ORPHA:466943 |
Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
Ramon Syndrome |
|
Telangiectasia, Decreased body weight, Kyphosis, Juvenile rheumatoid arthritis, Delayed eruption ... |
OMIM:266270 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Accelerated skeletal maturation, Synostosis of joints |
ORPHA:50945 |
Vascular Ehlers-Danlos Syndrome |
|
Melanocytic nevus, Osteolysis, Cigarette-paper scars, Abnormal eyelash morphology, Abnormality of... |
ORPHA:286 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia, Pancreatic fibrosis, Retroperitoneal fibrosis, Sclerosing cholangitis |
ORPHA:64744 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
Retinitis Pigmentosa 74 |
|
Polydactyly, Rod-cone dystrophy, Optic disc pallor, Posterior polar cataract, Obesity, Pigmentary... |
OMIM:616562 |
Glycogen Storage Disease Ii |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... |
OMIM:258040 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Optic atrophy, Microphallus, Aplasia of the uterus, Gonadal dy... |
ORPHA:284339 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... |
OMIM:165550 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Ring Chromosome 13 Syndrome |
|
Retinoblastoma, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of the thumb, ... |
ORPHA:96176 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse body hair, Sparse eyebrow, Brittle hair, Absent eyelashes, Absent nipple, Periorbital hype... |
OMIM:305100 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Ogden Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Decrea... |
OMIM:300855 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
Holoprosencephaly 2 |
|
Iris coloboma, Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Scoliosis, Cho... |
OMIM:157170 |
Cleft Velum |
|
Hypoplasia of the maxilla |
ORPHA:99772 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:618278 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Hypoplasia of the premaxilla, Optic nerve hypoplasia, H... |
OMIM:610829 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Precocious puberty in females, Urogenital sinus anomaly, Ambiguous genitalia, Ambiguous genitalia... |
ORPHA:90794 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Hardikar Syndrome |
|
Cleft soft palate, Esophageal varix, Intestinal malrotation, Celiac disease, Gastric varix, Hemat... |
OMIM:301068 |
Exstrophy-Epispadias Complex |
|
Absent penis, Bifid scrotum, Penoscrotal transposition, Epispadias, Bifid uterus, Bifid penis, Ab... |
ORPHA:322 |
Lymphangioleiomyomatosis |
|
Abnormality of skin pigmentation, Optic atrophy, Retinal hamartoma, Chylopericardium, Lymphadenop... |
ORPHA:538 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Malar flattening, Hypoplasia of the maxilla |
OMIM:122880 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal left ventricle morphology, ... |
ORPHA:2729 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:365 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia |
ORPHA:457284 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Micropenis, Hepatosplenomegaly |
ORPHA:51 |
Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovarian cyst, Aplas... |
OMIM:614527 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Beckwith-Wiedemann Syndrome |
|
Gonadoblastoma, Enlarged kidney, Hypertrophic cardiomyopathy, Cryptorchidism, Visceromegaly, Hepa... |
ORPHA:116 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... |
OMIM:180500 |
Chronic Graft Versus Host Disease |
|
Alopecia, Flexion contracture, Abnormality of skin pigmentation, Weight loss, Arthritis, Fasciiti... |
ORPHA:99921 |
Viss Syndrome |
|
Gastroesophageal reflux, High palate, Cleft soft palate, Bifid tongue, Bifid uvula, Macroglossia,... |
OMIM:619472 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis |
OMIM:614083 |
Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Bifid scrotum, Rectovaginal fistula, Rectoperineal fistula, Atrial sep... |
OMIM:107480 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Mitral valve prolapse, Uterine rupture, Cystocele, Cryptorchidism, Uterin... |
OMIM:130050 |
Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Aplasia of the uterus, Hypospadias, Cryptorchidi... |
OMIM:135900 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Neu-Laxova Syndrome 1 |
|
Patent foramen ovale, Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of t... |
OMIM:256520 |
Pallister-Killian Syndrome |
|
Ventricular septal defect, Labial hypoplasia, Aplasia of the upper vagina, Hypoplastic labia majo... |
OMIM:601803 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |