Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Neutropenia, Chronic Familial |
|
Clubbing, Gingivitis, Clubbing of fingers, Periodontitis, Neutropenia, Premature loss of teeth |
OMIM:162700 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... |
ORPHA:208441 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Perlman Syndrome |
|
Hepatomegaly, Micrognathia, Cryptorchidism, High, narrow palate, Hyperinsulinemia, Abnormal pancr... |
ORPHA:2849 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia, Attention deficit hyperactivity disorder |
OMIM:615401 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Oral ulcer, Athetosis, Leukopenia, Irritability, ... |
OMIM:229050 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo... |
ORPHA:281090 |
Trimethylaminuria |
|
Splenomegaly, Depression, Anemia, Neutropenia |
OMIM:602079 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach |
OMIM:114500 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Satoyoshi Syndrome |
|
Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... |
ORPHA:3130 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Short foot, Periodontitis, Compulsive behaviors, Reduction of neutrophil motility, ... |
OMIM:266265 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Hyperuricemia, Intestinal obstruction, Abnormality of the ovary |
ORPHA:543 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Down... |
OMIM:617052 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Ventricular hypertrophy, Congenital hip dislocation, Left atrial enlargement, Elev... |
OMIM:300280 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Gastroesophageal reflux, Atrial septal defect, Phocomelia, Microgastr... |
ORPHA:2538 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn... |
ORPHA:2975 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Abnormality of the dentition, 2-3 toe syndactyly, Irritabilit... |
ORPHA:391307 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila... |
ORPHA:2229 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome, High... |
OMIM:269920 |
Aceruloplasminemia |
|
Refractory anemia, Diabetes mellitus, Ataxia, Akinesia, Abnormal pancreas morphology, Limb ataxia... |
ORPHA:48818 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Thickened ribs, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate... |
OMIM:252920 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Confusio... |
OMIM:212140 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Hypospadias, Fractured radius, Ventricular septal defect, De... |
OMIM:616897 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Pyloric stenosis, Hyperammonemia |
ORPHA:664 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... |
OMIM:617100 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Polycystic ovaries, Gait disturbance, Type II diabetes mellitus, Cogni... |
ORPHA:100 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Anterior rib cupping, Exocrine pancreatic insufficiency, Metaphy... |
OMIM:617941 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly |
OMIM:613576 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... |
OMIM:615518 |
Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Mental deterioration, Hyperalaninemia, Hyp... |
OMIM:619051 |
Cyclic Neutropenia |
|
Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Peritonitis, ... |
ORPHA:2686 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... |
ORPHA:2688 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Thin upper lip vermilion, Congenital hip dislocation, Ulnar deviation of the 3rd fi... |
ORPHA:456312 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Abnormal enteric nervous system morphology, Cardio... |
ORPHA:85451 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Dementia, Yellow-brown discolorat... |
ORPHA:1946 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre... |
ORPHA:100924 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Intestinal bleeding, Interstitial cardiac fib... |
ORPHA:90291 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Premature loss of teeth, Oral ulcer, Gingi... |
ORPHA:486 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux, Hip dyspla... |
OMIM:617219 |
Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Absence of intrinsic factor |
OMIM:261000 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin... |
OMIM:201475 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cognitive impairment, Cardiomegaly |
ORPHA:858 |
Oslam Syndrome |
|
Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu... |
ORPHA:2760 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Abnormality of the spleen, Deviation of the 2nd fing... |
ORPHA:1305 |
Cantu Syndrome |
|
Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomegaly, Pericardial effusion... |
OMIM:239850 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hepatocellular carcinoma, Splenomegaly, Esophageal varix, Hypoalbumi... |
ORPHA:64743 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Oral ulc... |
ORPHA:169154 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi... |
OMIM:226990 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Recurrent sinusitis, Thrombocytosis |
OMIM:619281 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyseal ossificat... |
OMIM:613320 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ... |
ORPHA:3138 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Hypoka... |
OMIM:174900 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath... |
OMIM:617237 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th... |
OMIM:618624 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice... |
OMIM:208500 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Microglossia, Thickene... |
OMIM:253250 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Depression, Hip dysplasia, High palate, Attention defici... |
OMIM:618798 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Overlapping toe, Rocker bottom foot, Ataxia, Tapered finger, ... |
ORPHA:488642 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal thumb morphology, Protruding tongue, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... |
OMIM:618986 |
Bronchogenic Cyst |
|
Abnormal pericardium morphology, Abnormal stomach morphology, Dysphagia, Abnormal myocardium morp... |
ORPHA:2357 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Dementia, ... |
ORPHA:101096 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian t... |
ORPHA:722 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morp... |
ORPHA:234 |
Lethal Congenital Contracture Syndrome 10 |
|
Overlapping fingers, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Fe... |
OMIM:617022 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Anorexia, Thrombocytopenia... |
OMIM:557000 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... |
ORPHA:220460 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Cholangiocarcinoma, Hypogonadotropic... |
ORPHA:465508 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, High palate, Neutropenia, Lymphopenia, Reduced... |
OMIM:619752 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl... |
OMIM:256300 |
Müllerian Aplasia And Hyperandrogenism |
|
Cleft palate, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Bra... |
ORPHA:247768 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Cirrhosis, Neutropenia |
OMIM:604250 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala... |
OMIM:608836 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Rectal prolapse, Clubbing, Multiple gastric polyps, Abnormality of the ... |
OMIM:175200 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Cryptorchidism, Pyloric stenosis, Small hand, Cleft palate, Short foot, High ... |
ORPHA:96184 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth,... |
OMIM:269300 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Ovarian Fibrothecoma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... |
OMIM:181450 |
Multiple Synostoses Syndrome 1 |
|
Symphalangism affecting the phalanges of the hand, Cutaneous finger syndactyly, Short philtrum, L... |
OMIM:186500 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Confusion, Leukocytosis, Leukopenia, Addictive alcohol use, Leth... |
ORPHA:36238 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol... |
OMIM:209900 |
Fg Syndrome 3 |
|
Cryptorchidism, Pyloric stenosis, Broad hallux, Broad thumb |
OMIM:300406 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, I... |
OMIM:275350 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Pycnodysostosis |
|
Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teeth, Delayed er... |
OMIM:265800 |
Autosomal Dominant Centronuclear Myopathy |
|
Urinary incontinence, Cryptorchidism, Pyloric stenosis, Thin ribs, Mildly elevated creatine kinase |
ORPHA:169189 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Thin upper lip vermilion, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, A... |
OMIM:616263 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Shoulder dislocation, Abnormal heart valve morphology, Gastroesophageal reflux |
ORPHA:98892 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Hypocalcemia, Tetralogy of Fallot,... |
OMIM:601005 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Prominent floating ribs |
OMIM:152800 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, High, narrow palate, Femoral bowing, Anteriorly placed a... |
ORPHA:95699 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Clinodactyly, Radial deviation of finger |
OMIM:188025 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis, Congenital hip dislocation, Short 5th finger, Rocker bottom foot |
OMIM:133705 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Gastroesophageal reflux, Cardiomegaly |
ORPHA:3137 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Refsum Disease, Classic |
|
Short fourth metatarsal, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomy... |
OMIM:266500 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Oral ulcer, Thrombocytopenia |
OMIM:616744 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Diabetes mellitus, Ataxia, Cryptorchidism, Insulin resistance, Tooth malpositio... |
OMIM:616541 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Horseshoe kidney |
OMIM:218350 |
Bohring-Opitz Syndrome |
|
Syndactyly, Bilateral cleft palate, Overlapping toe, Supernumerary nipple, Tapered finger, Microg... |
OMIM:605039 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Neutropenia, Oral ulcer, Hepatocel... |
OMIM:232220 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Congenital pyloric atresia |
ORPHA:2617 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... |
OMIM:615503 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Premature loss of t... |
OMIM:224300 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Trisomy 18P |
|
Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Abnormal finger morphology, Atte... |
ORPHA:1715 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phalanx of finger, Broad met... |
ORPHA:508533 |
Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Gastrointestinal dysmotility, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopath... |
ORPHA:391428 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, A... |
ORPHA:2750 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Malabsorption... |
ORPHA:912 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentratio... |
OMIM:620306 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Rib fusion, Cleft palate, Abnormal ... |
ORPHA:261197 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe |
OMIM:229230 |
Pgm3-Cdg |
|
Hemolytic anemia, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4... |
ORPHA:443811 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Ataxia, Carious teeth, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased... |
OMIM:127550 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Distal Deletion 12Q |
|
Micrognathia, High, narrow palate, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of t... |
ORPHA:96149 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... |
ORPHA:512 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N... |
OMIM:617713 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Short thumb, Preaxial hand polydactyly... |
OMIM:227646 |
Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, High palate |
ORPHA:314575 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... |
ORPHA:363705 |
Marden-Walker Syndrome |
|
Hypospadias, Arachnodactyly, Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis,... |
OMIM:248700 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Anorexia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... |
ORPHA:169160 |
Reni Syndrome |
|
Ataxia, Hypoglycemia, Cryptorchidism, Mental deterioration, Lymphopenia |
OMIM:617575 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... |
ORPHA:3226 |
Atelosteogenesis Type I |
|
Short femur, Micrognathia, Abnormal ossification involving the femoral head and neck, Abnormal fi... |
ORPHA:1190 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Bilateral cryptorchidism, Carious teeth, Neutropenia, Eclabion, Lymphopenia |
OMIM:616395 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Abnormal femoral head morphology, Thrombocytopenia, Abnormal prim... |
ORPHA:1830 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... |
ORPHA:1517 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell ... |
ORPHA:760 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Crypt... |
OMIM:268400 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow greater sciatic not... |
OMIM:617425 |
Muir-Torre Syndrome |
|
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A... |
ORPHA:587 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o... |
OMIM:245600 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ... |
OMIM:263520 |
Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort... |
ORPHA:1328 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Cardiomegaly, High, narrow palate, Abnormal finger m... |
ORPHA:3472 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Hepatomegaly, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short... |
OMIM:620076 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyopathy, Clinoda... |
ORPHA:158687 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Overlapping toe, Tapered finger, Cryptorchidism, Penoscrotal transpos... |
OMIM:619148 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Oral ulcer, Hepato... |
OMIM:618935 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... |
OMIM:300048 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, ... |
ORPHA:508542 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Decreased r... |
ORPHA:699 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Cryptorchid... |
OMIM:263750 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Ectopic kidney, High, narrow palate, Renal cyst, High palate, Gastro... |
OMIM:122470 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Bilateral cryptorchidism, Thrombocytopenia, Neutropenia, Abnormal T ... |
OMIM:242900 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Metaphyseal dysplasia, Macrocytic ane... |
OMIM:250250 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum... |
OMIM:226730 |
Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Hepatomegal... |
OMIM:301068 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Anter... |
OMIM:102700 |
Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Hi... |
ORPHA:79330 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Liver abscess, Neutrophilia, Abnormality of the pancreas, Abnormal testis morpholo... |
ORPHA:54251 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Flaring of rib cage, Stomatitis, Broad ribs |
OMIM:612852 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Anal stenosis, Hypospadias, Broad hallux, Intestinal malrotation, Cryptorchidism, Pyl... |
OMIM:305450 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Multicystic kidney dysplasia, Supernumerary ... |
ORPHA:1001 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Sinusitis, Inability to walk, Choreoathetosis, Progressive cerebellar ... |
OMIM:208900 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nippl... |
ORPHA:457279 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... |
ORPHA:141127 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal paranasal sinus morphology, Lymphopenia |
OMIM:207731 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ... |
ORPHA:449432 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, Oral ulcer, B lymphocytopenia, A... |
OMIM:602450 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... |
OMIM:274000 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Split hand... |
OMIM:252500 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Psoriasis 14, Pustular |
|
Neutrophilia, Cholangitis, Leukocytosis, Furrowed tongue, Geographic tongue |
OMIM:614204 |
Icf Syndrome |
|
Abnormality of neutrophils, Protruding tongue, Micrognathia, Macroglossia, Lymphopenia, Anemia |
ORPHA:2268 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Short attention span, Splenomegaly, Hydrocele testis, High palate, Long philtrum, L... |
OMIM:605309 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia |
OMIM:620365 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Long fibula, Cognitive impairment, Abnormal metaphysis morphology, L... |
ORPHA:935 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, Hepatic fibrosis, High palate, Microretrognathia, Syndactyly, Hamartoma of tong... |
OMIM:311200 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Cardiomegaly, Cryptorchidism, Macroglossia,... |
OMIM:618143 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, ... |
OMIM:101200 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Pollakisuria, Dysphagia, Right ... |
ORPHA:268 |
Campomelia, Cumming Type |
|
Hepatomegaly, Bowing of the long bones, Pancreatic cysts, Abnormality of the pancreas, Abnormal r... |
ORPHA:1318 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Oral leukoplakia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Progressive psychomotor deterioration, Hepatosp... |
OMIM:268800 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Abnormally low T cell receptor exc... |
ORPHA:276 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:308552 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastroin... |
OMIM:270400 |
Mirage Syndrome |
|
Hypoglycemia, Rocker bottom foot, Cryptorchidism, Radial club hand, Thrombocytopenia, Leukopenia,... |
OMIM:617053 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
2-3 toe syndactyly, Delayed pubic bone ossification, Irregular epiphyses, High palate, Clinodacty... |
OMIM:618162 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopeni... |
OMIM:613179 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Hepatobl... |
OMIM:269150 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Hepatomegaly, Neutrophilia, Overlapping toe, Ataxia, Severe periodontitis,... |
ORPHA:99843 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cholangitis, Micrognathia, Short metatarsal, Hepatic fibrosis, Widely spaced teeth, High palate, ... |
OMIM:266920 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Confusion, Urinary incontinence, Cardiomegaly, Cardiomyopathy, Dementia |
OMIM:105210 |
Jacobsen Syndrome |
|
Smooth philtrum, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Missing ribs, Cryptorch... |
ORPHA:2308 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Arachnodactyly, Cardiomegaly, Thin ribs, Thin metatarsal cortices, Slender long bone, High palate... |
ORPHA:2463 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Cryptorchidism, Eryt... |
OMIM:612541 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
Pancreatic Agenesis 2 |
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Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Martinez-Frias Syndrome |
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Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t... |
OMIM:161700 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Schinzel-Giedion Syndrome |
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Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Hepatoblast... |
ORPHA:798 |
Matthew-Wood Syndrome |
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Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomegaly, Leukocytosis, Aphthous ulc... |
OMIM:615688 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Relapsing Fever |
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Neutrophilia, Thrombocytopenia, Leukocytosis, Jaundice, Leukopenia, Anemia |
ORPHA:91547 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Trisomy 8P |
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Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th toe, Cr... |
ORPHA:264450 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Pyloric sten... |
ORPHA:93111 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Broad hallu... |
ORPHA:353281 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Avascular necrosis of the capit... |
ORPHA:581 |
Meckel Syndrome |
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Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue... |
ORPHA:564 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ... |
ORPHA:454840 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Marden-Walker Syndrome |
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Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Arachnodactyly, Hypospadias... |
ORPHA:2461 |
Fryns Syndrome |
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Microretrognathia, Ectopic pancreatic tissue, Tented upper lip vermilion, Rocker bottom foot, Pro... |
OMIM:229850 |
Distal 22Q11.2 Microdeletion Syndrome |
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Atrial septal defect, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Campt... |
ORPHA:261330 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, 3-Methylglutaconic aciduria, Depression, Cardiomegaly |
OMIM:619259 |
Esophageal Atresia |
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Barrett esophagus, Ventricular septal defect, Abnormal external genitalia, Intestinal malrotation... |
ORPHA:1199 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Accessory spleen, 11 pairs of ribs, Smooth philtrum, Severe B lymphocytopenia, Portal hypertensio... |
OMIM:620005 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Reynolds Syndrome |
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Hepatomegaly, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux, Dysphagia |
ORPHA:779 |
Alveolar Echinococcosis |
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Liver abscess, Abnormal pelvis bone morphology, Cholangitis, Portal hypertension, Ataxia, Pancrea... |
ORPHA:284 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Elevated circulating luteinizing hormone level, Bifid distal phalanx of the thumb, Unilateral ren... |
OMIM:618419 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
1P36 Deletion Syndrome |
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Abnormality of the spleen, Abnormality of the liver, Clinodactyly of the 5th finger, Abnormal rep... |
ORPHA:1606 |
Pancreatic And Cerebellar Agenesis |
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Diabetes mellitus, Hypoglycemia, Overlapping fingers, Hyperglycemia, Pancreatic hypoplasia, Anemi... |
OMIM:609069 |
Pancreatic Agenesis 1 |
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Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Neutrophilia, Anorexia |
ORPHA:1302 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:99413 |
Turner Syndrome |
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Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:881 |
Mosaic Monosomy X |
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Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:99228 |
Monosomy X |
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Bicuspid aortic valve, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflam... |
ORPHA:99226 |
Jacobsen Syndrome |
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U-Shaped upper lip vermilion, Missing ribs, Micrognathia, Cryptorchidism, Clinodactyly of the 5th... |
OMIM:147791 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Syndactyly, Micrognathia, Cryptorchidism, Cleft lip, Furrowed tongue, Hip dysplasia, High palate,... |
OMIM:616975 |
Acute Generalized Exanthematous Pustulosis |
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Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Neutropenia |
ORPHA:293173 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Proximal placement of thumb, Gastroesophageal reflux, Atrial septal defect, ... |
ORPHA:818 |
Williams Syndrome |
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Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Feingold Syndrome 1 |
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Accessory spleen, Micrognathia, Asplenia, Short thumb, Short toe, 4-5 toe syndactyly, 2-3 toe syn... |
OMIM:164280 |
Frontometaphyseal Dysplasia 2 |
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Hip contracture, Short metacarpal, Congenital hip dislocation, Bicuspid aortic valve, Neurogenic ... |
OMIM:617137 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Protein-losing enteropathy, ... |
OMIM:619991 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Hepatosplenomegal... |
OMIM:608013 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Annular Pancreas |
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Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
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Annular pancreas |
OMIM:167750 |
Beckwith-Wiedemann Syndrome |
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Mandibular prognathia, Hepatomegaly, Hypoglycemia, Cryptorchidism, Splenomegaly, Abnormal pancrea... |
ORPHA:116 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Coxa valga, Splenomegaly, Glycopeptiduria, Oligosacchariduria, Macrog... |
OMIM:230000 |
Abetalipoproteinemia |
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Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Decreased LDL cholesterol co... |
ORPHA:14 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Ataxia, Micrognathia, Dysmetria, Dysphagia, Overlapping fingers, Lymphopenia, Absent uvula |
OMIM:619708 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Cholelithiasis |
OMIM:603903 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... |
ORPHA:353277 |
Arterial Tortuosity Syndrome |
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Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necrosis of the capital femoral epiphys... |
ORPHA:3342 |
Coffin-Lowry Syndrome |
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Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... |
OMIM:303600 |
Herpes Simplex Virus Encephalitis |
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Leukocytosis, Neutrophilia, Addictive alcohol use |
ORPHA:1930 |
Vici Syndrome |
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Everted upper lip vermilion, Median cleft lip, Micrognathia, Cleft upper lip, Dysphagia, Cleft pa... |
OMIM:242840 |
Aromatase Deficiency |
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Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Bohring-Opitz Syndrome |
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Micrognathia, Inability to walk, Cleft lip, Cleft palate, Metacarpophalangeal joint contracture, ... |
ORPHA:97297 |
Osteogenesis Imperfecta, Type X |
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Multiple rib fractures, Bowing of the long bones, Short femur, Pyloric stenosis, Nephrolithiasis,... |
OMIM:613848 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hallux valgus, Toe syndactyly, Hypospadias, Anterior pituitary hypoplasia, Arachnodactyly, Ventri... |
ORPHA:464306 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Thin upper lip vermilion, Diabetes mellitus, Portal hypertension, Pancreatic cysts,... |
OMIM:610199 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, H... |
OMIM:300855 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Finger swelling, Lymphopenia, Anemia |
OMIM:617591 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Reticulocytosis, Autoimmune hemolytic anemia, Increased B cell count, Eosinophilia,... |
ORPHA:3261 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucou... |
OMIM:300967 |
Craniorachischisis |
|
Bifid sternum, Anal atresia |
ORPHA:63260 |
Idiopathic Hypereosinophilic Syndrome |
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Neutrophilia, Swelling of proximal interphalangeal joints, Cholangitis, Eosinophilia, Confusion, ... |
ORPHA:3260 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Postaxial hand polydactyly, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hepatomegaly, Decreased HDL cholesterol concentration, Hypoplastic scapulae, Hyper... |
OMIM:256040 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Neonatal insulin-dependent ... |
ORPHA:556955 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal oral mucosa mo... |
ORPHA:2136 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Malabsorption, Splenomegaly, Pyloric stenosis, Tracheoesophageal fistula |
ORPHA:379 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... |
ORPHA:95430 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:365 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Abnormal neutrophil morphology, Limb ataxia, Neutropenia, Lympho... |
ORPHA:51636 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... |
ORPHA:3404 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, High palate, Abnormality of the uterus, Gastroe... |
ORPHA:199 |
Cushing Disease |
|
Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolerance, Pituitary corticotropic cell ... |
ORPHA:96253 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Hypoglycemia, Confusion, Anorexia, Aggressive behavior, Orchitis, J... |
ORPHA:99826 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Elevated circulating creatine kinase concentration, Abnormality of the urethra, Congenital pylori... |
ORPHA:158684 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries, Renal cyst |
ORPHA:137675 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Biliary hyperplasia, Congenit... |
ORPHA:731 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... |
ORPHA:1359 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Postax... |
OMIM:267010 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Irritability, Unconjugat... |
OMIM:618278 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc... |
ORPHA:79403 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... |
OMIM:619472 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a... |
ORPHA:391487 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Short metatarsal, High palate, Absent hallux, Micropenis, Patent fora... |
OMIM:216340 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Confusion, Anorexia, Orchitis, Sple... |
ORPHA:99827 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, High palate, Hypoplasia of the zygomatic b... |
OMIM:618500 |
Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Arachnodactyly, Overlapping toe, Biliary hyperplasia, Cryptorchidism, Contracture o... |
ORPHA:83617 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Aphthous ulcer |
OMIM:249100 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Arachnodactyly, High, narrow palate, Cardiomegaly |
ORPHA:91387 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Asplenia, Cleft lip, Cleft palate, Posterior rib fusion, Annular pancreas, Retrogna... |
OMIM:265380 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Oral ulcer, Hepatosplenomegaly |
OMIM:260920 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Hepatosplenomegaly, Irritability, Hypertrophic cardiomyopathy, Micropenis |
ORPHA:51 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolerance, Pa... |
ORPHA:99889 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Stippled calcific... |
ORPHA:51608 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Polycythemia |
OMIM:193300 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Mitral valve calcification, Coxa valga, Cardiomegaly, Aortic... |
OMIM:182250 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Hydroureter, Hypospadias, Down-sloping shoulders, Bicuspid aortic valve, Aganglionic ... |
OMIM:309800 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |