Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Diabetes mellitus, Ectopic ossification |
OMIM:602475 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Diarrhea 12, With Microvillus Atrophy |
|
Respiratory tract infection, Villous atrophy, Bronchiectasis, Microvillus inclusions, Osteopenia,... |
OMIM:619445 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Failure to thrive, Crypt hyperplasia |
OMIM:613217 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis |
OMIM:126250 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Growth delay, Villous atrophy |
OMIM:251850 |
Diarrhea 9 |
|
Failure to thrive, Villous atrophy |
OMIM:618168 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... |
ORPHA:166119 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Enterocolitis, Short stature, Villous atrophy, Diffuse... |
OMIM:616050 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis |
OMIM:607634 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones |
ORPHA:564003 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Reduced natural killer cell count, T lymphocytopenia, Villous atrophy, Lymphopeni... |
OMIM:619510 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Villous atrophy, Weight loss, Malabsorption, Aganglionic megacolon, Volvulus, Smal... |
ORPHA:95427 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Clubbing of fingers, Colitis, T... |
OMIM:614700 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... |
ORPHA:566943 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... |
OMIM:144750 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ... |
ORPHA:103907 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Weight loss, Malabsorption, Normocytic anemia, Abnormal spleen physio... |
ORPHA:398063 |
Immunodeficiency 31C |
|
Osteomyelitis, Recurrent respiratory infections, Weight loss, Villous atrophy, Intussusception, B... |
OMIM:614162 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Villous atrophy, Small for gestational age, Failure to thrive, Chronic hepatitis, Hepa... |
OMIM:614602 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... |
OMIM:166600 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Abnormal large intestinal mucosa morphology, Villous atrophy, Weight l... |
ORPHA:92050 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Increased stool alpha1-antitrypsin concentration, Reduced proportion of CD4+ effector mem... |
ORPHA:90362 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Congenital Disorder Of Glycosylation, Type Id |
|
Flexion contracture, High palate, Joint contracture of the hand, Villous atrophy, Bifid uvula, Cl... |
OMIM:601110 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Hepatic fibrosis, Anemia, Recurrent fractures, Weight loss, Villous at... |
OMIM:619377 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Biliary tract abnormality, Cholangitis, Viral hepatitis, Failure ... |
OMIM:209920 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Gastric varix, Panacinar... |
OMIM:613490 |
Feingold Syndrome 2 |
|
2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short stature, Short middle phalanx o... |
OMIM:614326 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Hepatic fibrosis, Cirrhosis, Villous atrophy, Steatorrhea, Failure to thrive, H... |
OMIM:602579 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, Villous atrophy, Hemolytic anemia, B lymphocytopenia,... |
OMIM:606367 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Autoimmune throm... |
OMIM:304790 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis |
OMIM:231095 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Generalized osteoscler... |
ORPHA:210110 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
Paget Disease Of Bone 3 |
|
Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Villous atrophy, Duodenitis |
OMIM:614328 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,... |
OMIM:618728 |
Netherton Syndrome |
|
Hypereosinophilia, Villous atrophy, Failure to thrive, Abnormal intestine morphology, Intestinal ... |
OMIM:256500 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Obesity, Villous atrophy |
OMIM:600955 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Growth delay, Absence of intrinsic factor |
OMIM:243320 |
Alpha-Heavy Chain Disease |
|
Anemia, Malabsorption, Lymphadenopathy, Growth delay, Hepatomegaly, Abnormal small intestine morp... |
ORPHA:100025 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Enterocolitis, T lymphocytopenia, Villous atrophy, Bronchiectasis, Short stature, Hepatitis, B ly... |
ORPHA:391487 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
Gracile Bone Dysplasia |
|
Asplenia, Short stature, Ankyloglossia, Slender long bone, Failure to thrive, Flared metaphysis, ... |
OMIM:602361 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea, Failure to thrive, Growth delay |
OMIM:613291 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, 4-layered lissencephaly, Microlissencephaly, Adducted thumb, D... |
ORPHA:89844 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Recurrent fractures, Arthritis, Osteopoikilosis, Generalized osteosclerosis,... |
ORPHA:1306 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Immunodeficiency 82 With Systemic Inflammation |
|
T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Pneumonia, Splenomegaly, Bronchitis, Osteo... |
OMIM:619381 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Syndromic Diarrhea |
|
Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymus, Abnormality of the liver, Villous atrop... |
ORPHA:84064 |
Bronchogenic Cyst |
|
Abnormal pleura morphology, Pulmonary cyst, Abnormal stomach morphology, Abnormality of the perit... |
ORPHA:2357 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Lissencephaly |
OMIM:619466 |
Immunodeficiency 87 And Autoimmunity |
|
Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Pleural effusion, Hepati... |
OMIM:619573 |
Schnitzler Syndrome |
|
Increased bone mineral density, Arthritis |
ORPHA:37748 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Villous atrophy, Small for gestational age, Jau... |
ORPHA:567983 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Pulmonary sequestration, Small for gestational age, Emphysema, Abnormal lu... |
ORPHA:70589 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... |
ORPHA:90650 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Hepatic fibrosis, Cirrhosis, Abnormality of the pancreas, Villous atrophy, Short st... |
OMIM:222470 |
Microgastria-Limb Reduction Defect Syndrome |
|
Phocomelia, Hepatomegaly, Ectrodactyly, Absent hand, Abnormal cortical gyration, Esophageal atres... |
ORPHA:2538 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Villous atrophy, Reticulocytopenia, Small for gestational age, Malabsorption, Refractory ... |
OMIM:557000 |
Hypophosphatasia |
|
Failure to thrive in infancy, Anemia, Recurrent fractures, Short stature, Emphysema, Abnormal met... |
ORPHA:436 |
Alg9-Cdg |
|
Gastroesophageal reflux, Abnormal bone ossification, Rhizomelia, Villous atrophy, Periportal fibr... |
ORPHA:79328 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Short stature, Fat malabsorption, Jaundice, Rickets, Failure to thrive, Osteopenia, He... |
OMIM:211600 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Flexion contracture, Villous atrophy, Steatorrhea, Hepatic steatosis, Failure t... |
OMIM:212065 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Mirage Syndrome |
|
Gastroesophageal reflux, Leukopenia, Radial club hand, Decreased body weight, Achalasia, Esophage... |
OMIM:617053 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Flexion contracture |
OMIM:612138 |
Recurrent Respiratory Papillomatosis |
|
Failure to thrive, Recurrent pneumonia, Abnormal lung morphology, Recurrent upper respiratory tra... |
ORPHA:60032 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, Pathologi... |
OMIM:259700 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus |
OMIM:618856 |
Dysosteosclerosis |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, ... |
ORPHA:1782 |
Hypercholanemia, Familial 1 |
|
Rickets, Failure to thrive, Fat malabsorption, Steatorrhea |
OMIM:607748 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular osteomyelit... |
ORPHA:53 |
Castleman Disease |
|
Anemia, Weight loss, Abnormality of the gastrointestinal tract, Jaundice, Generalized lymphadenop... |
ORPHA:160 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis... |
ORPHA:85188 |
Tracheobronchopathia Osteochondroplastica |
|
Bronchitis, Recurrent respiratory infections, Calcification of cartilage, Recurrent pneumonia, Es... |
ORPHA:3348 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Increased bone mineral density, Joint hypermobility, Limitation of knee mobi... |
OMIM:614856 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... |
OMIM:301078 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Increased bone mineral density, Joint stiffness, Joint hyperflexibility |
ORPHA:628 |
Primary Ciliary Dyskinesia |
|
Asplenia, Respiratory tract infection, Abnormal sperm motility, Bronchiectasis, Polysplenia, Peri... |
ORPHA:244 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Decreased osteoclast count, Diaphyseal sclerosis, Mandibular ... |
OMIM:259710 |
Syndromic Recessive X-Linked Ichthyosis |
|
Short stature, Abnormal stomach morphology, Lissencephaly, Acute leukemia |
ORPHA:281090 |
Ciliary Dyskinesia, Primary, 33 |
|
Bronchiectasis, Recurrent bronchitis, Recurrent pneumonia, Recurrent lower respiratory tract infe... |
OMIM:616726 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification |
ORPHA:163649 |
Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr... |
ORPHA:93284 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Cervical lymphad... |
ORPHA:3260 |
Sarcoidosis, Susceptibility To, 2 |
|
Abnormal pulmonary interstitial morphology, Pneumothorax, Bronchiectasis, Emphysema, Pleural effu... |
OMIM:612387 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... |
OMIM:601376 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly |
OMIM:617441 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Serrated Polyposis Syndrome |
|
Gastric diverticulum, Pancreatic adenocarcinoma, Colorectal polyposis, Biliary tract neoplasm, Ne... |
ORPHA:157798 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Cachexia, Emphysema, Clubbing, Recurrent lower respi... |
ORPHA:60033 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Bronchiectasis |
OMIM:615294 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Recurrent respiratory infections |
OMIM:619063 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal platelet morphology, Pyloric stenosis, Abnormal intestine morpho... |
ORPHA:2978 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Short stature, Fat malabsorption, Hepatocellular carcinoma, Int... |
OMIM:601847 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... |
OMIM:619079 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Fat malabsorption, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Ri... |
OMIM:607765 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Steatorrhea, Intestinal ... |
OMIM:615237 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Disorder Of Bile Acid Synthesis |
|
Abnormality of the liver, Fat malabsorption, Biliary tract abnormality, Rickets, Cholestasis |
ORPHA:79168 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Gastroesophageal reflux, Generalized bone demineralization, Abnormal bone ossification, Short 5th... |
ORPHA:73230 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Achilles tendon contracture, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:254361 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Weight loss, Abnormality of the gastrointestinal tract, Pleural effusion, Leuk... |
ORPHA:2902 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Synostosis of c... |
ORPHA:896 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr... |
OMIM:619350 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes |
OMIM:610582 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Gastroesophageal reflux, Hypoplasia of the thymus, Pyloric stenosis, Joint laxity, Pulmonary hypo... |
OMIM:613177 |
Polycythemia Vera |
|
Weight loss, Myelofibrosis, Gastrointestinal hemorrhage, Hepatomegaly, Portal vein thrombosis, Po... |
ORPHA:729 |
Acute Interstitial Pneumonia |
|
Nodular pattern on pulmonary HRCT, Reduced hematocrit, Bronchiectasis, Subpleural honeycombing, P... |
ORPHA:79126 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent respiratory infections, Atele... |
OMIM:615067 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Ankylosis, Osteopenia, Osteoporosis |
OMIM:239000 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Subpleural honeycombing, Lung adenocarcinoma, Clubbin... |
ORPHA:2302 |
Majeed Syndrome |
|
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Increased bone mineral... |
ORPHA:77297 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Hip dislocation, Limitation of joint mobility, Emphysema, Arachnodactyly |
ORPHA:171719 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Weight loss, Honeycomb lung, Emp... |
ORPHA:79127 |
Alg6-Cdg |
|
Abnormality of the liver, Shortening of all distal phalanges of the fingers, Jaundice, Macrogloss... |
ORPHA:79320 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Myelofibrosis... |
ORPHA:86843 |
Short-Rib Thoracic Dysplasia 12 |
|
Lobulated tongue, Splenomegaly, Short toe, Neonatal death, Periportal fibrosis, Short foot, Bowin... |
OMIM:269860 |
Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Eosin... |
ORPHA:2070 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distribution width, Increased me... |
OMIM:261000 |
Scleroderma |
|
Osteolytic defects of the phalanges of the hand, Gastroesophageal reflux, Gastrointestinal telang... |
ORPHA:801 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Emphysema |
OMIM:130700 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Common Variable Immunodeficiency |
|
Abnormality of the liver, Recurrent respiratory infections, Bronchiectasis, Hemolytic anemia, Rec... |
ORPHA:1572 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Stomach cancer, Gastroesophageal reflux, Weight loss, Multipl... |
ORPHA:2494 |
Myelofibrosis |
|
Splenomegaly, Myelofibrosis, Myeloproliferative disorder |
OMIM:254450 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Jaundice, Extramedullary hematopoiesis, Steatorrhea, Rickets, Failure to thriv... |
ORPHA:79303 |
Werner Syndrome |
|
Increased bone mineral density, Type II diabetes mellitus, Insulin resistance, Joint stiffness, O... |
ORPHA:902 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteolysis, Osteopenia, Pathologic fracture, Osteoarthritis |
ORPHA:77259 |
Farber Disease |
|
Short toe, Hepatic fibrosis, Flexion contracture, Nodular pattern on pulmonary HRCT, Anemia, Shor... |
ORPHA:333 |
Essential Thrombocythemia |
|
Abnormal platelet morphology, Splenomegaly, Myelofibrosis, Acute leukemia |
ORPHA:3318 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Camptodactyly, Failure to thrive, Thrombocytopenia, Cholestasis, Hepatomegaly, Protein-lo... |
OMIM:608104 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Gastroesophageal reflux, Gastrointestinal telang... |
ORPHA:90291 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Recurrent bronchopulmonary infections, Lymphopenia, Emphysema,... |
OMIM:242700 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac... |
ORPHA:1876 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Intraalveolar phospholipid accumulation, Nodular pattern on pulmonary HRCT, Neonatal death, Desqu... |
OMIM:610921 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Malabsorption, Gastrointestinal carcinoma, Cachexia, Glossitis, Clubbing of fingers, Club... |
OMIM:175500 |
Dysosteosclerosis |
|
Increased susceptibility to fractures, Sclerotic scapulae, Clavicular sclerosis, Osteopenia, Scle... |
OMIM:224300 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Sclerosis of skull base, Cortical thickenin... |
OMIM:131300 |
Allergic Bronchopulmonary Aspergillosis |
|
Bronchiectasis, Abnormal eosinophil morphology, Weight loss, Emphysema |
ORPHA:1164 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoplastic iliac wing, Narrow palate, Short foot, Joint contracture of the hand, Small hand, Cor... |
OMIM:235510 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Hallux valgus, Pulmonary hypoplasia, Postnatal growth retardation, R... |
ORPHA:536467 |
Pycnodysostosis |
|
Increased susceptibility to fractures, Coronal craniosynostosis, Increased bone mineral density, ... |
ORPHA:763 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... |
ORPHA:289176 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Portal hypertension, Cirrhosis, Short stature, Emphysema |
OMIM:210050 |
Thrombocytopenia 6 |
|
Thrombocytopenia, Osteoporosis, Myelofibrosis |
OMIM:616937 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Fat malabsorption, Steatorrhea, Growth delay, Exocrine pancreatic insuffici... |
ORPHA:309108 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... |
OMIM:615710 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, High palate, Atelectasis, Joint hypermobility |
OMIM:300219 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Recurrent fractures, Joint hyperflexibility, Osteopenia, Eosinophilia, Cleft palat... |
ORPHA:2314 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Myelofibrosis, Abnormal number of alpha granules |
OMIM:139090 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina... |
OMIM:300048 |
Scedosporiosis |
|
Bronchitis, Septic arthritis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal jejunum morphol... |
ORPHA:449280 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Bone marrow hypocellularity, Colitis, Intrauterine growth retard... |
OMIM:615190 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Macrothrombocytopenia, Increased RBC distribution width, Gastrointestinal hemorrha... |
OMIM:187900 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Osteoporosis |
OMIM:615954 |
Whim Syndrome |
|
Lymphadenitis, Respiratory tract infection, Neutropenia, Bronchiectasis, Abnormality of neutrophi... |
ORPHA:51636 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Fat malabsorption, Bone marrow hypocellul... |
ORPHA:811 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Arachnodactyly, Hip dislocation, Emphysema |
OMIM:614100 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia |
OMIM:616604 |
Poems Syndrome |
|
Sclerosis of foot bone, Sclerosis of skull base, Diabetes mellitus, Sclerosis of hand bone |
ORPHA:2905 |
Mpi-Cdg |
|
Hepatic fibrosis, Failure to thrive, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertensi... |
ORPHA:79319 |
Hardikar Syndrome |
|
Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac disease, Pulmonary artery sten... |
OMIM:301068 |
Meier-Gorlin Syndrome 6 |
|
Gastroesophageal reflux, Tracheobronchomalacia, Patellar aplasia, Small for gestational age, Simp... |
OMIM:616835 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Jaundice, Hepatomegaly, Emphysema |
ORPHA:60 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Osteopoikilosis |
ORPHA:94063 |
Juvenile Polyposis Of Infancy |
|
Broad phalanx of the toes, Anemia, Short stature, High, narrow palate, Intussusception, Cachexia,... |
ORPHA:79076 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Zygomycosis |
|
Pneumothorax, Pleural effusion, Osteolysis, Gastritis, Colitis, Hematemesis, Splenic abscess, Unu... |
ORPHA:73263 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Osteomyelitis, Liver abscess, Granulomatosis, Pleural effusion, Recurrent pneumoni... |
OMIM:306400 |
Meconium Aspiration Syndrome |
|
Aspiration pneumonia, Pneumothorax, Intrauterine growth retardation, Atelectasis |
ORPHA:70588 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification |
OMIM:618476 |
Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis |
OMIM:259730 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ... |
ORPHA:141127 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis |
ORPHA:94089 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Gastric hypertrophy, Metaca... |
OMIM:161700 |
Oculoskeletodental Syndrome |
|
Short femoral neck, Short stature, Small for gestational age, Elbow flexion contracture, Macroglo... |
OMIM:618440 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Hepatic steatosis, Slender build, Reduced bone mineral density, Abnormal pulmon... |
OMIM:613658 |
Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Short stature, Birth length less than 3rd percentile, Slender long bone, Emphys... |
OMIM:613804 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Pneumonia, Atelectasis, Pulmonary edema |
ORPHA:70587 |
Osteopetrosis, Autosomal Recessive 5 |
|
Osteopetrosis, Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count |
OMIM:259720 |
Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Lung adenocarcinoma, Emphysema, Hypophosphatemic rickets, Pulmonary fibrosis |
OMIM:618913 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal pulmonary interstitial morphology, Weight loss, Bronchiectasis, Arthritis, Generalized l... |
OMIM:181000 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pulmonary hypoplasia, Pancreatic fibrosis, Hepa... |
OMIM:200995 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Weight loss |
ORPHA:103910 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Esophageal stenosis |
OMIM:619817 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Camptodactyly, Absent sternal ossification, Flat glenoid fossa, ... |
OMIM:224690 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
High palate, Generalized joint laxity, Short stature, Lissencephaly, Emphysema, Failure to thrive... |
ORPHA:357074 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Vascular Hyalinosis |
|
Malabsorption, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Bilateral lung agenesis, Short stature, Multilobulated spleen, Pul... |
OMIM:601186 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Spontaneous pneumothorax |
OMIM:618154 |
X-Linked Hypophosphatemia |
|
Vertebral hyperostosis, Enthesitis, Arthritis, Limitation of joint mobility, Generalized osteoscl... |
ORPHA:89936 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Limitation of... |
ORPHA:2658 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Hyperinsulinemia, Hyperglycemia, Glycosuria, Inc... |
ORPHA:79474 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality... |
ORPHA:234 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Short stature, Thrombocytopenia, Hypoplastic spleen |
OMIM:185070 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
Pearson Syndrome |
|
Anemia, Abnormality of the liver, Small for gestational age, Exocrine pancreatic insufficiency, M... |
ORPHA:699 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
High palate, Short stature, Joint laxity, Large for gestational age, Myelofibrosis, Failure to th... |
OMIM:607721 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... |
ORPHA:90652 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Gastroesophageal reflux, Flexion contracture, Decreased body weight, Macroglossia, Lissencephaly,... |
ORPHA:258 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti... |
OMIM:618278 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancreatic lymphangiectasis, Hepatom... |
ORPHA:1655 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Cystic pattern on pulmonary HRCT, El... |
OMIM:610978 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Bronchiectasis, Recurrent bronchitis, Pneumonia, Atelectasis |
OMIM:244400 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Craniosynostosis, Multiple joint contractures |
ORPHA:33364 |
Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita |
OMIM:259775 |
Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Hip contracture, Increased bone mineral density, Joint stiffness, Shou... |
ORPHA:800 |
Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ... |
ORPHA:2929 |
Familial Renal Glucosuria |
|
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia |
ORPHA:69076 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Increased bone mineral density |
OMIM:127000 |
Tarp Syndrome |
|
Short sternum, Postaxial polydactyly, Finger syndactyly, Tongue nodules, Abnormal duodenum morpho... |
ORPHA:2886 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Autosomal Recessive Polycystic Kidney Disease |
|
Fat malabsorption, Cholangiocarcinoma, Pulmonary hypoplasia, Hepatoblastoma, Hepatosplenomegaly, ... |
ORPHA:731 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pancreatic lymphangiectasis, H... |
OMIM:235255 |
Gaucher Disease |
|
Osteomyelitis, Recurrent fractures, Increased bone mineral density, Osteolysis, Osteopenia, Abnor... |
ORPHA:355 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis |
ORPHA:35687 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Wide anterior fontanel, Pyloric stenosis, Hip dislocation, Small bowel diverticula,... |
ORPHA:90349 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Abnormality of the tonsils, Cleft palate, Thrombocytopenia, Splenomegal... |
ORPHA:567 |
Congenital Tracheomalacia |
|
Gastroesophageal reflux, Tracheobronchomalacia, Pneumothorax, Bronchiectasis, Esophageal atresia,... |
ORPHA:95430 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Pseudohypoparathyroidism Type 1A |
|
Hyperostosis frontalis interna, Increased bone mineral density, Ectopic ossification, Reduced bon... |
ORPHA:79443 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis |
OMIM:241410 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Emphysema, Lymphadenopathy, Chylothorax, Gastrointestinal hemorrhage, Abnormality o... |
ORPHA:538 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Arthritis, Jaundice, Xero... |
ORPHA:779 |
Desmosterolosis |
|
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand |
OMIM:602398 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Ectopic ossification |
ORPHA:79444 |
Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Congenital shortened small intestine, Neonatal death, Alveolar capillary dysplasia, Eso... |
OMIM:265380 |
Lujo Hemorrhagic Fever |
|
Leukopenia, Stiff neck, Fulminant hepatitis, Lymphopenia, Odynophagia, Leukocytosis, Dysphagia, T... |
ORPHA:319213 |
Oculocerebrorenal Syndrome Of Lowe |
|
Gastroesophageal reflux, Anemia, Genu valgum, Narrow palate, Recurrent fractures, Short stature, ... |
ORPHA:534 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
Metachromatic Leukodystrophy |
|
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... |
ORPHA:512 |
Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Increased bone mineral density, Increased susceptibility to frac... |
OMIM:119600 |
Relapsing Polychondritis |
|
Hepatitis, Arthritis, Limitation of joint mobility, Anteriorly placed anus, Chondritis, Chondriti... |
ORPHA:728 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Flexion contracture, Macroglossia, Failure to thrive, Hepatomegaly, ... |
ORPHA:365 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Digeorge Syndrome |
|
Gastroesophageal reflux, Anemia, High palate, Hypoplasia of the thymus, Short stature, Interverte... |
OMIM:188400 |
Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Hip dislocation, Joint laxity, Small bowel diverticula, Emphysema, Adducted thumb... |
ORPHA:90348 |
Primary Hyperoxaluria |
|
Recurrent fractures, Generalized osteosclerosis |
ORPHA:416 |
Sclerosteosis 1 |
|
Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... |
OMIM:269500 |
Viss Syndrome |
|
Bifid tongue, Cleft soft palate, Pneumothorax, Bifid uvula, Hip dislocation, Submucous cleft soft... |
OMIM:619472 |
Sarcoidosis |
|
Abnormal lymph node morphology, Pneumothorax, Bronchiectasis, Pleural effusion, Increased T cell ... |
ORPHA:797 |
Chand Syndrome |
|
Cleft palate, Short fifth metatarsal, Bifid tongue, Atelectasis |
ORPHA:1401 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Anemia, Pneumothorax, Pulmo... |
OMIM:130050 |
Williams Syndrome |
|
Increased bone mineral density, Type II diabetes mellitus, Radioulnar synostosis, Joint laxity, S... |
ORPHA:904 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Craniosynostosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:667 |
Keutel Syndrome |
|
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Recurrent bronchitis, Em... |
OMIM:245150 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Wide pubic symphysis, Abnor... |
OMIM:219000 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Distal arthrogryposis, High palate, Generalized joint laxity, Pneumothorax, Abnormal duodenum mor... |
OMIM:601776 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pleural effusion, Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hemat... |
OMIM:618183 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Hepatic steatosis, Hepatomegaly, Thrombocytopenia, Protein-losing enteropath... |
OMIM:619991 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones |
OMIM:269150 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Recurrent fractures |
ORPHA:2785 |