Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Flattened femoral head, Multicentric femoral head ossification, Leukocytosis, Congenital hip disl... |
ORPHA:168621 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... |
ORPHA:2098 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... |
ORPHA:263665 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... |
ORPHA:1972 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... |
ORPHA:1876 |
Gastric Volvulus, Intrathoracic |
|
Hiatus hernia, Volvulus |
OMIM:137210 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Melena, Gastric adenocarcinoma |
OMIM:619182 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... |
ORPHA:2494 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormality of ... |
ORPHA:1802 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... |
OMIM:619079 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... |
OMIM:600785 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Sucrosuria, Hiatus Hernia And Mental Retardation |
|
Hiatus hernia |
OMIM:272000 |
Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Hernia, Hiatus |
|
Hiatus hernia |
OMIM:142400 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... |
ORPHA:1505 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Flexion c... |
OMIM:601560 |
Intrinsic Factor Deficiency |
|
Malabsorption, Absence of intrinsic factor |
OMIM:261000 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Delayed epiphyseal ossification, Epiphyseal dysplasia, Fragmented epiphys... |
ORPHA:166016 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Slc35A2-Cdg |
|
Talipes equinovarus, Craniosynostosis, Osteopenia, Camptodactyly of finger, Short tibia, Aplasia/... |
ORPHA:356961 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... |
OMIM:251230 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... |
OMIM:166740 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Reynolds Syndrome |
|
Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux |
ORPHA:779 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... |
OMIM:607143 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the large intestine, Colorectal polyposis, Biliary tra... |
ORPHA:157798 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Caffey Disease |
|
Bowing of the legs, Tibial bowing, Joint hypermobility, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Atelosteogenesis Type Iii |
|
Laryngotracheomalacia, Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Mic... |
ORPHA:56305 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy... |
OMIM:231095 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Toe syndactyly, Camptodactyly |
OMIM:258865 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Hematochezia |
ORPHA:160148 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Omodysplasia 1 |
|
Limited knee flexion/extension, Limited knee flexion, Increased fibular diameter, Micrognathia, S... |
OMIM:258315 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... |
OMIM:609945 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis, Pathologic fracture |
OMIM:607278 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... |
OMIM:307800 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:600081 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... |
ORPHA:1988 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... |
OMIM:608940 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... |
OMIM:264700 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Gastric varix |
OMIM:613490 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short humer... |
OMIM:171480 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Splenomegaly, Micrognathia, Abnormal... |
ORPHA:3035 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... |
OMIM:209950 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute my... |
ORPHA:86843 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... |
ORPHA:96334 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Immunodeficiency 92 |
|
Osteomyelitis, Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proporti... |
OMIM:619652 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Inflammation of the large intestine |
OMIM:618108 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Ankle swelling, Anemia |
ORPHA:514 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Decreased calvaria... |
OMIM:617925 |
Ivic Syndrome |
|
Joint stiffness, Leukocytosis, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of... |
ORPHA:2307 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
Occipital Horn Syndrome |
|
Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Abnormality of ... |
ORPHA:198 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Pancytopenia, Thromb... |
OMIM:308240 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... |
OMIM:223800 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed ossification of carpal bones, Delayed tarsa... |
OMIM:600002 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Short ribs, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polydactyly, Mesomeli... |
OMIM:263520 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Osteopetrosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... |
ORPHA:289157 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Craniosynostosis |
OMIM:218550 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Patho... |
ORPHA:98850 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... |
OMIM:274000 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Dent Disease 1 |
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Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... |
OMIM:300009 |
Majeed Syndrome |
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Metaphyseal irregularity, Osteomyelitis, Increased bone mineral density, Flexion contracture, Spl... |
ORPHA:77297 |
Atelosteogenesis, Type I |
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Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
Syndromic Recessive X-Linked Ichthyosis |
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Abnormal stomach morphology |
ORPHA:281090 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Autosomal Recessive Hypophosphatemic Rickets |
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Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... |
ORPHA:289176 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
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Atrophic gastritis |
OMIM:616576 |
Wolfram Syndrome 2 |
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Gastric ulcer |
OMIM:604928 |
Acrofacial Dysostosis, RodrÃguez Type |
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Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... |
ORPHA:1788 |
Orofaciodigital Syndrome X |
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Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
Osteopetrosis, Autosomal Recessive 5 |
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Increased bone mineral density, Decreased osteoclast count, Splenomegaly, Osteopetrosis, Microgna... |
OMIM:259720 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Recurrent fractures, Small abnormally formed scapulae, Tibial... |
ORPHA:140 |
Osteogenesis Imperfecta, Type Viii |
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Recurrent fractures, Tibial bowing, Radial bowing, Short metacarpal, Femoral retroversion, Osteop... |
OMIM:610915 |
Arteriosclerosis, Severe Juvenile |
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Gastric ulcer |
OMIM:208060 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Dysphagia, Chronic gastritis, Colitis, Inflammation of the large intestine |
OMIM:608809 |
Kyphomelic Dysplasia |
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Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... |
OMIM:211350 |
Fibrochondrogenesis 1 |
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Short palm, Clinodactyly of the 5th finger, Joint contracture of the hand, Narrow greater sciatic... |
OMIM:228520 |
Cousin Syndrome |
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Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture of... |
OMIM:260660 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Beta-Thalassemia Intermedia |
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Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Reduced bone mi... |
ORPHA:231222 |
Brachymesomelia-Renal Syndrome |
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Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing |
OMIM:113470 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Acro-Renal-Mandibular Syndrome |
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Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... |
ORPHA:958 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... |
ORPHA:911 |
Bronchogenic Cyst |
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Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology |
ORPHA:2357 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
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Gastritis |
ORPHA:2575 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
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Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... |
OMIM:601027 |
Phocomelia, Schinzel Type |
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Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Acrorenal-Mandibular Syndrome |
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Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... |
OMIM:200980 |
Diffuse Cutaneous Mastocytosis |
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Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis |
ORPHA:79456 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowin... |
OMIM:114290 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
X-Linked Lymphoproliferative Disease |
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Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia... |
ORPHA:2442 |
Hydrolethalus Syndrome 1 |
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Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... |
OMIM:236680 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossification, Apla... |
OMIM:276820 |
Williams Syndrome |
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Abnormal gastric mucosa morphology, Malabsorption, Gastroesophageal reflux, Macroglossia, Tracheo... |
ORPHA:904 |
Wolcott-Rallison Syndrome |
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Metaphyseal dysplasia, Neutropenia, Lymphocytosis, Iron deficiency anemia |
ORPHA:1667 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Atrophic gastritis, Crohn's disease, Lymphocytic infiltration of the colorectal mucosa |
OMIM:616100 |
Schneckenbecken Dysplasia |
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Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... |
ORPHA:3144 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Lymphocytosis, Iron deficiency anemia, Arthritis, Thrombocytosis, Perianal abscess, Reduced natur... |
OMIM:301074 |
Onychotrichodysplasia And Neutropenia |
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Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... |
OMIM:208500 |
Acromelic Frontonasal Dysplasia |
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Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia |
ORPHA:1827 |
Scleroderma |
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Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:801 |
Wolfram Syndrome |
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Gastrointestinal hemorrhage, Malabsorption, Gastric ulcer |
ORPHA:3463 |
Systemic Sclerosis |
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Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:90291 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
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Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Microgastria-Limb Reduction Defect Syndrome |
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Anal atresia, Hiatus hernia, Gastroesophageal reflux, Intestinal malrotation, Tracheoesophageal f... |
ORPHA:2538 |
Congenital Tracheal Stenosis |
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Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
Cranioectodermal Dysplasia 1 |
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Short distal phalanx of finger, Short toe, Short ribs, Short humerus, Brachydactyly, Osteoporosis... |
OMIM:218330 |
Mixed Connective Tissue Disease |
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Gastroesophageal reflux, Gastrointestinal hemorrhage, Xerostomia, Gastritis |
ORPHA:809 |
Osteopathia Striata With Cranial Sclerosis |
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Sclerosis of skull base, Clinodactyly of the 5th finger, Talipes equinovarus, Joint contracture o... |
OMIM:300373 |
Charge Syndrome |
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Absent tibia, Lymphopenia, Bilateral talipes equinovarus, Self-mutilation, Absent radius, Microgn... |
OMIM:214800 |
Metachromatic Leukodystrophy |
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Neoplasm of the gallbladder, Abnormal stomach morphology, Abnormal duodenum morphology, Intussusc... |
ORPHA:512 |
Camptodactyly Syndrome, Guadalajara, Type I |
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Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... |
OMIM:211910 |
Kinsship Syndrome |
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Dislocated radial head, Osteopenia, Micrognathia, Polydactyly, Mesomelia, Pes planus, Fibular hyp... |
OMIM:619297 |
Orofaciodigital Syndrome Type 4 |
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Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Camptodactyly of finger, Preaxi... |
ORPHA:2753 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Recurrent gastroenteritis, Ileus, Malabsorption, Colitis, Gastritis, Abnormal intestine morphology |
ORPHA:37042 |
Zygomycosis |
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Melena, Colitis, Gastritis, Unusual gastrointestinal infection, Ileitis, Enterocolitis, Hematemes... |
ORPHA:73263 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Esophageal varix, Gastric ulcer |
ORPHA:2072 |
Coffin-Siris Syndrome 1 |
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High palate, Intussusception, Cleft palate, Intestinal malrotation, Duodenal ulcer, Gastric ulcer |
OMIM:135900 |
Kikuchi-Fujimoto Disease |
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Lymphocytosis, Splenomegaly, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:50918 |
Liver Disease, Severe Congenital |
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Lymphocytosis, Inappropriate crying, Splenomegaly, Micrognathia, Leukopenia, Joint laxity, Anemia... |
OMIM:619991 |
Syndromic Diarrhea |
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Villous atrophy, Colitis, Gastritis, Hepatoblastoma |
ORPHA:84064 |
Ethylene Glycol Poisoning |
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Gastritis |
ORPHA:31826 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
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Meconium ileus, Gastritis |
OMIM:219721 |
Immunodeficiency 82 With Systemic Inflammation |
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Crohn's disease, Colitis, Gastritis, Duodenal ulcer, Villous atrophy, Anoperineal fistula |
OMIM:619381 |