Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia |
OMIM:613217 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy |
OMIM:615863 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin... |
ORPHA:529808 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Infertility, Hearing impairment |
OMIM:300719 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Osteopor... |
ORPHA:85194 |
Winchester Syndrome |
|
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis, Corneal opacity |
OMIM:277950 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Bicuspid aortic valve, Premature thelarche, Osteolysis involving bones of the upper l... |
ORPHA:371428 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume... |
OMIM:617718 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Spastic Paraparesis And Deafness |
|
Tremor, Cataract, Hypogonadism, Hearing impairment |
OMIM:312910 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... |
OMIM:300604 |
Stiff Skin Syndrome |
|
Cataract, Lipodystrophy, Bicuspid aortic valve, Elbow flexion contracture, Limited shoulder movem... |
OMIM:184900 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Tremor, Splenomegaly, Flexion contracture, Osteop... |
ORPHA:87876 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Cataract, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Elevated circulating creatine kinase concentration, ... |
ORPHA:94093 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity, Hearing impairment |
ORPHA:351 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Corneal opacity, Large for gestational age, Microcornea, Microphthalmia |
ORPHA:2432 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c... |
OMIM:616834 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Atrial septal defec... |
ORPHA:290 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Inguinal hernia, Corneal opacity, Abnormal heart valve morphology, Joi... |
ORPHA:577 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Increased mean platelet volume, Sensorineural hearing impairment, ... |
ORPHA:182050 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Optic nerve hypoplasia, Posteriorly rotated ears, Increased circula... |
OMIM:618156 |
Kniest Dysplasia |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Coronary artery atherosclerosis, Carotid artery ste... |
OMIM:210250 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Atrophic scars, Stroke, Ischemi... |
OMIM:182410 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Cataract, Small for gestational age, Abnormality of ... |
ORPHA:79325 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp... |
ORPHA:199299 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Hip contracture, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defe... |
OMIM:121050 |
Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, T... |
ORPHA:3008 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:284169 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Glenoid fossa hypoplasia, Spina bifida, Pectus excavatum, Sensorineural he... |
OMIM:161200 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Reduced bone mineral density |
ORPHA:2370 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Failure to thriv... |
OMIM:617744 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Cataract, Impaired glucose tolerance, Increased circulating ferr... |
OMIM:606069 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism... |
ORPHA:500159 |
Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestational age, Catar... |
ORPHA:79237 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial s... |
OMIM:615981 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Horizontal ribs, Cryptorchidism, Pate... |
OMIM:614857 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Sensorineural hearing impairment... |
OMIM:243310 |
Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Inguinal hernia, Cataract, Corneal opacity, Splenomegaly, Arthritis, T... |
ORPHA:61 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli... |
ORPHA:1667 |
Classic Galactosemia |
|
Reduced bone mineral density, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Cr... |
ORPHA:79239 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Tremor, Flexion contracture, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolemia, ... |
OMIM:212065 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Cryptorchidi... |
ORPHA:329224 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Optic nerve hypoplasia, E... |
OMIM:301056 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis |
OMIM:614328 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... |
OMIM:614736 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Erythrokeratodermia Variabilis |
|
Cataract, Diabetes mellitus, Corneal opacity, Weight loss, Protruding ear, Abnormal testis morpho... |
ORPHA:317 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Sclerocornea, Absent earlobe, Spina bifida occulta, Developmental c... |
OMIM:612109 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin... |
ORPHA:2410 |
Lathosterolosis |
|
Elevated hepatic transaminase, Cataract, Foam cells with lamellar inclusion bodies, Bilobate gall... |
OMIM:607330 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... |
OMIM:618845 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Large for gestational a... |
ORPHA:363705 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Splenomegaly, Sensorineural heari... |
ORPHA:93476 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph... |
OMIM:609115 |
Cantu Syndrome |
|
Bicuspid aortic valve, Large for gestational age, Cardiomegaly, Pericardial effusion, Patent duct... |
OMIM:239850 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, C... |
ORPHA:1473 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia, Diabetes insipidus |
OMIM:304800 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Failure to thrive, Hearing im... |
OMIM:620157 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia |
OMIM:125800 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Decreased serum insulin-like growth factor 1, Retina... |
ORPHA:79324 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Pectus carinatu... |
OMIM:245600 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Cryptorchidism, Flexion contracture, Developmental cataract, EEG abnormality |
OMIM:618815 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... |
OMIM:613845 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Inguinal hernia, Flat cornea, Bicuspid aortic valve, Torticollis, Arterial tortuosi... |
OMIM:614816 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Cataract, Small for gestational age, Posteriorly rotated ears, Reduced bone mine... |
OMIM:618392 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Radial club hand,... |
OMIM:617053 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbumine... |
ORPHA:14 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ... |
OMIM:610600 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Hypoalbuminemia, Hypernatremia, Pulmonic stenosis, ... |
OMIM:615508 |
Mucolipidosis Iv |
|
Corneal opacity, Optic atrophy, Hypergastrinemia, Opacification of the corneal stroma, Dystonia, ... |
OMIM:252650 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia, Sensorineural hearing impairment |
ORPHA:94064 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Villous atrophy, Colitis, Small for gestational age |
OMIM:614602 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Malabsorption |
OMIM:600955 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating ... |
ORPHA:90791 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Decreased nerve conduction velocity, Splenomegaly, Sensorineural heari... |
ORPHA:812 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Osteoporosis, Mic... |
ORPHA:48431 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope... |
OMIM:155100 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Failure to thrive, Enterocolitis |
OMIM:616050 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... |
ORPHA:101330 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... |
OMIM:618955 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Corneal opacity, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... |
OMIM:166300 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopi... |
ORPHA:167 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Weill-Marchesani Syndrome 3 |
|
Joint stiffness, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, ... |
OMIM:614819 |
Peroxisome Biogenesis Disorder 3B |
|
Sensorineural hearing impairment, Elevated circulating phytanic acid concentration, Osteoporosis,... |
OMIM:266510 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity, Low-set ears |
ORPHA:1532 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Developmental cataract, Hydrocele testis, Hypocholesterolemia, Neonatal death, Hype... |
OMIM:618810 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... |
OMIM:613153 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morp... |
ORPHA:2306 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95512 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... |
OMIM:619565 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Abscess, Hypoglycemia, Myocarditis, Peritonitis, Leuk... |
ORPHA:810 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Proteus Syndrome |
|
Venous malformation, Splenomegaly, Limbal dermoid, Mandibular hyperostosis, Multiple lipomas, Lip... |
OMIM:176920 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Failure to thrive, High palate, Bifid uvula |
OMIM:601110 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Failure to thrive, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Sensori... |
OMIM:617751 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Potocki-Lupski Syndrome |
|
Small for gestational age, EEG abnormality, Hypocholesterolemia, Failure to thrive, Hypothyroidis... |
OMIM:610883 |
Cystinosis |
|
Corneal opacity, Nephrogenic diabetes insipidus, Rickets, Hypokalemia, Hypophosphatemia, Type I d... |
ORPHA:213 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal sternum morphol... |
ORPHA:91387 |
Nephrogenic Diabetes Insipidus |
|
Nephrogenic diabetes insipidus, Failure to thrive, Hypernatremia |
ORPHA:223 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556037 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Abnormal ovarian physiology, Prematu... |
ORPHA:90794 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... |
ORPHA:289548 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
ORPHA:361 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Radioulnar synostosis, Ab... |
ORPHA:2741 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Increased... |
ORPHA:168558 |
Tangier Disease |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Corneal opacity, Carotid artery stenosis, Thro... |
ORPHA:31150 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Abnormality of the liver, Hepatic fibrosis, Hypoplasia of the thymus, Atri... |
ORPHA:84064 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Harel-Yoon Syndrome |
|
Corneal opacity, Optic atrophy, Pectus carinatum, Developmental cataract, Dystonia, Hypertrophic ... |
OMIM:617183 |
Chylomicron Retention Disease |
|
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556030 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, EEG with abnormally slow frequencies, EEG with focal epileptiform discharges, Abnor... |
ORPHA:163921 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Cataract, Small for gestational age, Bicuspid aortic valve, Ventricular septal ... |
OMIM:610443 |
Thrombocytopenia 1 |
|
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... |
OMIM:313900 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, ... |
OMIM:214700 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Holoprosencephaly |
|
Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Chorioretinal coloboma,... |
ORPHA:2162 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Trichohepatoenteric Syndrome 1 |
|
Hepatic fibrosis, Hypoalbuminemia, Hepatomegaly, Increased mean platelet volume, Abnormality of t... |
OMIM:222470 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hypopla... |
OMIM:619149 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Coffin-Siris Syndrome 7 |
|
Posteriorly rotated ears, Bicuspid aortic valve, Sagittal craniosynostosis, Ventricular septal de... |
OMIM:618027 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Type II diabetes mellitus, Short clavi... |
ORPHA:401923 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Patent ductus arteriosus, A... |
ORPHA:1120 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Pancytopenia, Sp... |
OMIM:603553 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Absent brainstem auditory responses, Cataract, Anoph... |
ORPHA:90321 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Cataract, Bicuspid aortic valve, Abnormal dental enamel morphology, Pectus exca... |
ORPHA:96169 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Cryptorchidism, Hyperkalemia, Astigmatism, Glycosuria, F... |
ORPHA:97362 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Weight loss, Protein-losing enteropathy, Jejunitis |
ORPHA:398063 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morpholo... |
OMIM:615009 |
Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Cataract, Corneal opacity |
ORPHA:90654 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Corneal opacity, Recurrent fractures, Abnormal pupil morph... |
ORPHA:1764 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Enlarged thorax, Glucose intoler... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Enlarged thorax, Glucose intoler... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Enlarged thorax, Glucose intoler... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Reduced bone mineral density, Enlarged thorax, Glucose intoler... |
ORPHA:881 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Protruding ear, Lentiglobus, Hypon... |
ORPHA:534 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular s... |
OMIM:130720 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Retinal detachment, Joint laxity, Corneal opacity, Isosexual precocious puberty, Oste... |
ORPHA:2788 |
Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Male hypogonadism, Hyponatremia, Hepatomegaly, Male infertility, Retina... |
OMIM:219800 |
Norrie Disease |
|
Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ... |
ORPHA:649 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Tremor, Elevated circulating phytanic acid concentratio... |
OMIM:614307 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, O... |
ORPHA:95409 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Abnormality of thyroid physiology, Corneal opacity,... |
ORPHA:1830 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis, Leukocytosis, Abnormal autonomic nervous system physiology, Hy... |
ORPHA:83601 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Hypokalemia, Hypocal... |
OMIM:617913 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Abnormal c... |
ORPHA:904 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Overriding aorta, Failure to thrive in infancy, Abnormal pinna morphology, Bicuspid... |
ORPHA:477817 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Generalized joint laxity, Coloboma, Abnormal optic dis... |
ORPHA:508498 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Bicuspid aortic valve, Joint hypermobility, Cerebral hemorrhage, Hea... |
ORPHA:536545 |
Short Syndrome |
|
Posterior embryotoxon, Diabetes mellitus, Corneal opacity, Abnormal dental enamel morphology, Ing... |
ORPHA:3163 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Cataract, Failure to thrive in infancy, Optic nerve hypoplasia,... |
OMIM:620155 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Zellweger Syndrome |
|
Hepatomegaly, Failure to thrive, Posterior embryotoxon, Corneal opacity, Cataract, Ventricular se... |
ORPHA:912 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Posteriorly rotated ears, Cryptorch... |
OMIM:611209 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Hepatosplenomegaly, Abno... |
ORPHA:93399 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... |
OMIM:169400 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperli... |
ORPHA:369 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphology, Ab... |
ORPHA:391673 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Progeroid Short Stature With Pigmented Nevi |
|
Thoracic scoliosis, Diabetes mellitus, Premature ovarian insufficiency, Small for gestational age... |
OMIM:176690 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,... |
OMIM:277900 |
Netherton Syndrome |
|
Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal... |
OMIM:256500 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Joint stiffness, Osteoporosis, Increased bone density w... |
OMIM:136300 |
Farber Disease |
|
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice... |
ORPHA:333 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:264350 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Hypoglycemia, Hearing impairment, Cardiomyopathy, Decreased liver function, Failure to ... |
ORPHA:67048 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Low-set, posteriorly rotated ears, Corneal opacity, Abnormal dental enamel mo... |
ORPHA:2323 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Coloboma, Simple ear |
OMIM:619318 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity, Patent ductus arteriosus, Short ribs, Narrow chest, Coarse metaphyseal trabecula... |
OMIM:618961 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hypoglycemia, Abnormal heart morphology, Astigm... |
ORPHA:457279 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... |
ORPHA:199296 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Cryptorchidism, Bicuspid aortic valve, Decreased testicular size, Low-set ears |
OMIM:300997 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Microvesicular hepatic... |
ORPHA:275761 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Sple... |
OMIM:612526 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy,... |
ORPHA:93400 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Ventricular septal defect, Lens luxation, Ectopia lentis, Joint stiffness... |
OMIM:608328 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Posteriorly rotated ears, Increased mean platelet volume, Cryptorchidism, Patent... |
OMIM:616737 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Hyp... |
OMIM:613090 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ... |
ORPHA:100924 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Cherry... |
ORPHA:355 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Protru... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Protru... |
ORPHA:363958 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Aromatase Deficiency |
|
Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ... |
ORPHA:91 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Pectus carinatu... |
ORPHA:496790 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:613291 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P... |
ORPHA:494444 |
Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Hepatomegaly, Inguinal hernia, Corneal opacity, Grayish enamel, Joint stiffness, Os... |
OMIM:253010 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve, Foot joint contracture, Dystonia |
OMIM:619641 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment,... |
ORPHA:309288 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Craniosynostosis, Cryptorchidism, A... |
ORPHA:453499 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Ventricular septal defect, Coarctation of aorta, Mi... |
OMIM:244450 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Marfan Syndrome |
|
Bicuspid aortic valve, Incisional hernia, Flexion contracture, Pectus carinatum, Hypoplasia of th... |
OMIM:154700 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi... |
OMIM:601678 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Corneal opacity, Craniosynostosis, Congenital diaphragmatic hernia, ... |
ORPHA:2409 |
Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defect, Central diaphragmatic... |
OMIM:617450 |
Snakebite Envenomation |
|
Hyponatremia, Intracranial hemorrhage, Stroke, Hypopituitarism, Thrombocytopenia |
ORPHA:449285 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron... |
OMIM:619991 |
Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Splenomegaly, Atheroscler... |
ORPHA:79292 |
De Barsy Syndrome |
|
Osteopenia, Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy, Ventricular septal defect,... |
ORPHA:2962 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Cachexia, Splenomegaly, Myocarditis, Insulin resistance... |
ORPHA:3452 |
Hartsfield Syndrome |
|
Posteriorly rotated ears, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Low-set ears... |
OMIM:615465 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Cupped ear, Protruding ear,... |
OMIM:618619 |
Werner Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating aspartate ... |
OMIM:277700 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Congenital sensorineural hearing impa... |
OMIM:617872 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Atypical scarring of skin, Long hairs... |
ORPHA:79273 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Generalized dystonia, Corneal opacity, Camptodactyly of finger, Ventricular sept... |
ORPHA:354 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract, Sensorineural hearing impairment, Hyperinsulinemia, Obesity, Optic atrophy... |
ORPHA:791 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy |
OMIM:619510 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Cataract, Uplifted earlobe, Epiphyseal stippling, Type I diabetes mellitus, Failure... |
ORPHA:251009 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Sensorineural hearing impairment |
ORPHA:3225 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Ventricular septal defect, Ectopia lentis, Joint stiffness, Patent ductus arteriosus, M... |
OMIM:277600 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Protruding ear,... |
OMIM:152950 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Bicuspid aortic valve, Hypoplastic left heart, Atrial septal defect, Failure to thr... |
OMIM:619721 |
Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Cataract, Abnormal dental enamel morphology, Len... |
ORPHA:2791 |
Cardiac Valvular Dysplasia, X-Linked |
|
Joint laxity, Bicuspid aortic valve, Joint stiffness, Short chordae tendineae of the tricuspid va... |
OMIM:314400 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... |
OMIM:619260 |
Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Protruding ear, Coloboma, Chorioretinal coloboma, Juvenile cataract, Hepat... |
OMIM:619475 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Joint laxity, Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Bicuspid aortic valve, ... |
OMIM:619720 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohyp... |
OMIM:612462 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Decreased nerve conduction veloci... |
OMIM:616652 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Corneal opacity, Anophthalmia, Posteriorly rotated ears, Cryptorchi... |
ORPHA:899 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis, Decreased body weight, Failure... |
OMIM:616201 |
Cockayne Syndrome A |
|
Tremor, Ivory epiphyses of the phalanges of the hand, Loss of facial adipose tissue, Hepatomegaly... |
OMIM:216400 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Premature ovarian insufficiency, Cataract, Congenital hepati... |
ORPHA:3156 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Mosaic Trisomy 9 |
|
Corneal opacity, Camptodactyly of finger, Ventricular septal defect, Dextrocardia, Asplenia, Cryp... |
ORPHA:99776 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Decreased circu... |
OMIM:203400 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Cataract, Ventricular septal defect, Abnormal rib morp... |
ORPHA:93267 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Abnormal enchondral ossific... |
ORPHA:2635 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... |
OMIM:231200 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Optic atrop... |
ORPHA:137675 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, 11 pairs of ribs, Atrial septal defect, Bicuspid aortic valve, Ventricular septal d... |
OMIM:271640 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Catarac... |
ORPHA:93296 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Bicuspid aortic valve |
ORPHA:397951 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian... |
OMIM:261550 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma |
ORPHA:2611 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Lens coloboma, Cupped ear, Umbilical hernia, Joint contracture of the 4th finger... |
OMIM:618914 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Ventricular septal defect, Recurrent fractures, Cryp... |
ORPHA:2772 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Bicuspid aortic valve, Pectus excavatum, Ascending tubular aorta aneurysm, Aortic root aneurysm, ... |
OMIM:619825 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Hepatomegaly, Failure to thrive, Diabetes mellitus, Fo... |
ORPHA:456312 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Hyponatremia, Scarring, Abnormal circulating porphyrin concentrati... |
ORPHA:79473 |
Japanese Encephalitis |
|
Hyponatremia, Decreased motor nerve conduction velocity, Neutrophilia, Stiff neck, Facial palsy, ... |
ORPHA:79139 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Inguinal hernia, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Umbil... |
OMIM:614170 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98797 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Villous atrophy, Ileus |
OMIM:304790 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Corneal opacity, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling,... |
ORPHA:584 |
Vici Syndrome |
|
Atrial septal defect, Failure to thrive, Cataract, Left ventricular hypertrophy, Elevated circula... |
OMIM:242840 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Fabry Disease |
|
Conjunctival telangiectasia, Abnormal endocardium morphology, Cataract, Corneal opacity, Corneal ... |
ORPHA:324 |
X Small Rings |
|
Joint laxity, Premature ovarian insufficiency, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:96201 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Developmental cataract, Decreas... |
OMIM:619420 |
Partial Atrioventricular Septal Defect |
|
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Postlingual sensorineural hearing impairment, Increased susceptibility to fractures, Dyst... |
OMIM:304700 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Ventricular septa... |
OMIM:208085 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem... |
ORPHA:682 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... |
OMIM:214110 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve |
OMIM:615599 |
Meacham Syndrome |
|
Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Aplasia of the right hemidiaphragm... |
OMIM:608978 |
Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Malformation of the hepatic d... |
OMIM:218330 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Hyper... |
ORPHA:3085 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Macrot... |
OMIM:241200 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Distal joint laxity, Generalized joint lax... |
ORPHA:1900 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca... |
OMIM:613795 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Neoplasm of the pancreas, Elevated hepatic transaminase, Premature ovarian insufficie... |
ORPHA:2959 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Joint stiffness, Splenomegaly, Cranial hyperostos... |
OMIM:607014 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Joint stiffness, Pectus carinatum, Abnormal rib cage morphol... |
OMIM:252605 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Hyperkalem... |
ORPHA:90790 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Flexion contracture,... |
OMIM:270200 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Failure to thrive in infancy, Microcytic anemia, Elevated circulating ala... |
OMIM:618805 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Congenital diaphragmatic hernia, Hypoplasia of the iris, Chorioretinal col... |
ORPHA:2092 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiffness, Sp... |
ORPHA:585 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Cerebral arteriovenous malformation, Lens colobom... |
ORPHA:42775 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Celluli... |
ORPHA:549 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm |
OMIM:608653 |
Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Anemia of inadequate production, Radioulnar synostosis, Atresia of the ext... |
OMIM:614900 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Tracheomalacia, Cryptorchidism, Pulmonary arter... |
ORPHA:261494 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma, Hypogonadotropic hypogonadism, Decreased fertility, Secondar... |
ORPHA:1643 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Abnormal dental enamel morphology, Abnormal heart valve morphology, Grayish enam... |
ORPHA:582 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Glyc... |
ORPHA:411634 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Osteoporosis, Pseudohypoparathyroidism, Obesity, Subcutaneous ossification, Hypogonadis... |
OMIM:103580 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia, Secundum atrial septal defect, Optic atrophy, Low-set ears |
OMIM:608688 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus excavatum, Patent ductus arteriosu... |
ORPHA:2847 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Pectus excavatum, Microspherophakia, Deep anterior chamber, Buphtha... |
OMIM:251750 |
Cockayne Syndrome B |
|
Tremor, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypoplasia of the iris, Loss o... |
OMIM:133540 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Atrial septal defect, Patent foramen ovale, Hypothyroidism, Jo... |
ORPHA:438213 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Bic... |
ORPHA:1772 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Weight loss, Failu... |
OMIM:619377 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Early onset of sexual maturation, Glucose... |
OMIM:194050 |
Ravine Syndrome |
|
Failure to thrive, Abnormal auditory evoked potentials, Decreased body weight |
ORPHA:99852 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Radioulnar synostosis, Abnormal rib morphology, Pectus carinatum |
ORPHA:3268 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Cataract, Flexion contracture, B lymphocytopenia, Hypo... |
OMIM:619851 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Dystonia, Splenomegaly, Jaundice, Patent d... |
OMIM:251290 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Small for gestational age, Transient ischemic attack, Bilateral cryptor... |
OMIM:242900 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Flexion contracture of finger, Corneal opacity, Lipoatrophy, Recurre... |
OMIM:601812 |
Flynn-Aird Syndrome |
|
Cataract, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal... |
ORPHA:2047 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Reduced bone mineral density, Th... |
ORPHA:581 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Sens... |
OMIM:256550 |
Scheie Syndrome |
|
Aortic valve stenosis, Corneal opacity, Retinal degeneration |
OMIM:607016 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Posterior rib fusion, Atrial septal defe... |
OMIM:265380 |
Renpenning Syndrome |
|
Decreased testicular size, Diabetes mellitus, Cataract, Cachexia, Joint stiffness, Pectus excavat... |
ORPHA:3242 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Occipital encephalocele, Cataract, Corneal opacity, Optic nerve hypoplasia, E... |
OMIM:236670 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Corneal opacity, Recurrent fractures, Precocious puberty, Coloboma, Hypophosphatemic ... |
OMIM:163200 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... |
ORPHA:264580 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Dubowitz Syndrome |
|
Inguinal hernia, Aplastic anemia, Cryptorchidism, Protruding ear, Acute lymphoblastic leukemia, H... |
OMIM:223370 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Low-set ears, Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume |
OMIM:300048 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Carpenter Syndrome 1 |
|
Microcornea, Conductive hearing impairment, Atrial septal defect, Spina bifida occulta, Sagittal ... |
OMIM:201000 |
Primary Ciliary Dyskinesia |
|
Male infertility, Atrial situs ambiguous, Abnormal atrial arrangement, Female infertility, Asplen... |
ORPHA:244 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Protruding ear, Hypochloremia, Hypokalemia, Hyperaldoste... |
ORPHA:89938 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Thickened helices, Conductive hearing impairment, Atrial septal defect, Hy... |
OMIM:607872 |
Alg3-Cdg |
|
Osteopenia, Cataract, Abnormal pinna morphology, Lipodystrophy, Abnormality of the endocrine syst... |
ORPHA:79321 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Cataract, Megaloblastic anemia, Trem... |
OMIM:222300 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin... |
OMIM:610168 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... |
OMIM:619518 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Decreased circulating plasmalogen concentration, Cataract, Inguinal hernia, Optic ner... |
OMIM:222765 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Cataract, Abnormal rib morphology, Neutropenia |
ORPHA:2643 |
Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Inflammation of the large intestine, Colitis, Failure to thrive |
OMIM:614700 |
Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impair... |
ORPHA:2790 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inguinal hernia, Corneal opacity, Increased susceptibility to fractures, Athetosis, Abnormal corn... |
ORPHA:357058 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Precocious atherosclerosis, Thoracic kyphosis, Juvenile cataract, Hypothyroidism, Ost... |
ORPHA:909 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Joint laxity, Atrial septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Cr... |
ORPHA:453504 |
H Syndrome |
|
Histiocytosis, Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Hearing impairment, Microc... |
ORPHA:168569 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Joint laxity, Atrial septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Cr... |
ORPHA:352665 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Elevated circulating creatine kina... |
ORPHA:79095 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Bicuspid aortic valve, Ventricular septal defect, Aspl... |
ORPHA:210122 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Tortuous cerebral arteries, Joint laxity, Corneal opacity, Protruding ear, Developmen... |
OMIM:616603 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Pectus ca... |
ORPHA:536471 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Cataract, Posteriorly rotated ears, Elevated circulating hexacosanoic acid concentr... |
OMIM:614872 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Opacification of the corneal stroma |
OMIM:271630 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... |
OMIM:616648 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Tremor, Protruding ear, Atrial septal defect, Simple ear, Joint laxity, Su... |
OMIM:612474 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Mixed hearing impairment,... |
ORPHA:309282 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive |
ORPHA:570422 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials |
OMIM:617523 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Optic neuropathy,... |
OMIM:610505 |
Sarcoidosis |
|
Increased T cell count, Leukopenia, Hypothyroidism, Hepatomegaly, Hemolytic anemia, Hyperthyroidi... |
ORPHA:797 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Cataract, Corneal opacity, Cryptorchidism, Sensorineural hearing impairment, Lim... |
ORPHA:2719 |
Trisomy 13 |
|
Atrial septal defect, Cataract, Anophthalmia, Ventricular septal defect, Cryptorchidism, Patent d... |
ORPHA:3378 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Corneal opacity, Abnormal heart valve morphology, Spatulate ribs, Joint stiffness, ... |
OMIM:253220 |
Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Hepatic steatosis, Hepatomegaly, Prec... |
OMIM:270400 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... |
OMIM:109120 |
Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Conductive hearing impairment, Retinal degeneration, Hepatom... |
ORPHA:580 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearing imp... |
OMIM:616367 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Cataract, Peripheral retinal dege... |
ORPHA:168549 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Cataract, Autoimmune hypoparathyroidism, Hyperphosphatemia, Conju... |
ORPHA:36913 |
Infant Botulism |
|
Hyponatremia, Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Hyperthyroidism, Corneal opacity, Decreased response to growth hormone stimulat... |
ORPHA:488632 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Cataract, Lipodystrophy, Down-sloping shoulders, Hepatocellular carcinom... |
OMIM:616200 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Craniofacial hyperostosis, Abnormal rib morphology, Optic atrophy |
ORPHA:1513 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Joint laxity, Juvenile myelomonocytic leukemia, Posteriorly rotated ears, Bicuspid aortic valve, ... |
OMIM:613563 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Sensorineural hearing impairment, Hypochloremia, Hypokalemia, Hyp... |
OMIM:602522 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Opa... |
OMIM:215250 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Dystonia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Oste... |
OMIM:606054 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Abnormal circulating aldos... |
OMIM:300539 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Atrial septal defect, Cataract, Bicuspid aortic valve, Ventricular septal defect, C... |
ORPHA:353281 |
Werner Syndrome |
|
Abnormal cerebral vascular morphology, Thyroid carcinoma, Increased bone mineral density, Pulmona... |
ORPHA:902 |
Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, L... |
ORPHA:93474 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Conductive hearing impairm... |
ORPHA:740 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Reduced ... |
ORPHA:79474 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cataract, Joint hypermobility, Pectus excavatum, Cryptorchidism, Macrotia, Low p... |
OMIM:219150 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Pectus e... |
OMIM:612582 |
Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Corneal opacity, Abnormal heart valve morphology, Joint stiffness, Splenomegaly,... |
ORPHA:579 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Adrenal hypoplasia, Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidi... |
OMIM:214100 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... |
OMIM:608022 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal clavicle morphology, Corneal opacity, Camptodactyly of finger, Abnormal he... |
ORPHA:93473 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Increased mean platelet volume, Abnormality o... |
ORPHA:487796 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Congenital diaphragmatic hernia, Missing ribs, External ear malformation, Crypto... |
ORPHA:1647 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegal... |
OMIM:614866 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Papilledema, Hepatosplenomeg... |
ORPHA:2072 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Inguinal hernia, Flexion contracture of finger, Small for gestational age, Shoul... |
OMIM:193700 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ... |
OMIM:609465 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Elevated c... |
ORPHA:772 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Posteriorly rotated ears, Bicuspid aortic valve, Limited elbow movement, Ventricular septal defec... |
OMIM:610759 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy |
OMIM:606367 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Pectus excav... |
OMIM:617168 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Bicuspid aortic valve, Mitral atresia, Hypoglycemia, ... |
OMIM:220111 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Cataract, Decreased response to growth hormone stimul... |
ORPHA:94089 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Facial ... |
OMIM:259720 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Cataract, Failur... |
OMIM:610377 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cryptorchidism, Cataract, Corneal opacity, Decreased testicular size |
ORPHA:1867 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Venous insufficiency, Splenomegaly, Abnormality... |
ORPHA:2969 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Microcornea, Chorioreti... |
ORPHA:139471 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Adrenal i... |
ORPHA:427 |
Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Small for gestational age, Bicuspid aortic valve, C... |
ORPHA:1596 |
Osteogenesis Imperfecta |
|
Osteopenia, Osteoarthritis, Flexion contracture, Pectus carinatum, Narrow chest, Decreased skull ... |
ORPHA:666 |
Fucosidosis |
|
Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure... |
ORPHA:349 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dilation of Virchow-Robin spaces, Corneal opacity, E... |
OMIM:615273 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Prominent veins on trunk, Shoulder disloca... |
ORPHA:536532 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Abnormal pinna morphology, Elbow contracture, Bicuspid aortic valve, Pectus exca... |
OMIM:617137 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... |
OMIM:310600 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defect, Complete atrioventric... |
OMIM:619343 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalan... |
OMIM:259600 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Cryptorchidism, Neonatal de... |
OMIM:613730 |
Alagille Syndrome 1 |
|
Microcornea, Papillary thyroid carcinoma, Atrial septal defect, Abnormal anterior chamber morphol... |
OMIM:118450 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Inguinal hernia, Internal carotid artery dissection, Scapular winging, Bicuspid aorti... |
OMIM:150230 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidi... |
OMIM:617577 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Joint stiffness, Splenom... |
OMIM:607015 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Cupped ri... |
ORPHA:85167 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy |
OMIM:604278 |
Familial Pterygium Of The Conjunctiva |
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Opacification of the corneal stroma |
ORPHA:2989 |
Short Syndrome |
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Joint laxity, Rieger anomaly, Cataract, Small for gestational age, Prominent superficial veins, I... |
OMIM:269880 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
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Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Abnormal dental enamel morphology, C... |
ORPHA:464 |
Immunodeficiency 31C |
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Villous atrophy, Weight loss, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussus... |
OMIM:614162 |
Hb Bart'S Hydrops Fetalis |
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Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Coloboma, Atrial septal defect, Conductive hearing impairment, Patent fora... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Coloboma, Atrial septal defect, Conductive hearing impairment, Patent fora... |
ORPHA:353277 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Lipomas of eyelids, Cataract, Corneal opacity, Abnormality of cartilage of external ear, Cupped e... |
ORPHA:2399 |
Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Microcornea, Elbow ankylosis |
ORPHA:2557 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Overfolded helix, Axil... |
OMIM:619339 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
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Epiphyseal stippling, Cataract, Hypogonadism, Hearing impairment |
OMIM:302950 |
Gm1-Gangliosidosis, Type Iii |
|
Foam cells, Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Vertebral fusion, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypop... |
OMIM:206900 |
Abcd Syndrome |
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Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Transketolase Deficiency |
|
Hepatomegaly, Atrial septal defect, Cataract, Ventricular septal defect, Abnormal coronary artery... |
ORPHA:488618 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
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Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Mitral valve prolapse, Joint h... |
ORPHA:555877 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Decreased circulating cortisol level, Conductive hearing impairment, Simple ear, Hyponatremia, De... |
OMIM:201750 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Hyperphosphatemia,... |
OMIM:146200 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Corneal opacity, Elevated circulating creatin... |
OMIM:175780 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Ring Chromosome Y Syndrome |
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Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... |
ORPHA:261529 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Tremor, Cryptorchidism, Flexion contracture, Hypsarrhythmia, Hypoproteinemia |
OMIM:608093 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98798 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa... |
ORPHA:217085 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... |
OMIM:110100 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Stroke, Hypocalcemia |
ORPHA:173 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
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Small for gestational age, Bicuspid aortic valve, Hypoglycemia, EEG abnormality, Umbilical hernia... |
OMIM:614501 |
Sponastrime Dysplasia |
|
Joint laxity, Cataract, Small for gestational age, Precocious puberty, Delayed epiphyseal ossific... |
ORPHA:93357 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis |
OMIM:602562 |
Cat-Eye Syndrome |
|
Abnormal rib morphology, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hearing impairment |
ORPHA:195 |
Hypophosphatasia |
|
Failure to thrive in infancy, Recurrent fractures, Hypercalcemia, Craniosynostosis, Abnormal rib ... |
ORPHA:436 |
Carpenter Syndrome |
|
Craniosynostosis, Cryptorchidism, Patent ductus arteriosus, Obesity, Abnormal cornea morphology, ... |
ORPHA:65759 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Small for... |
OMIM:612289 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Posteriorly rotated ears, Congenital sensorineural hear... |
OMIM:617306 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Corneal opacity, Lipodystrophy, Bone cyst, Osteolysis, Coarctation of ... |
ORPHA:2396 |
3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Craniosynostosis, Camptodactyly of toe, Obesit... |
ORPHA:251038 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flexion contracture, Macro... |
OMIM:608836 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Conductive hearing impa... |
ORPHA:217093 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy |
OMIM:619063 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Subcutaneous lipoma, Ventricular septal defect, Sclerocornea, Cryptorchidis... |
OMIM:613001 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Cryptorchidism, Abnormal rib morpholo... |
ORPHA:1703 |
Mend Syndrome |
|
Cataract, Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Ele... |
ORPHA:401973 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Uplifted earlobe, Asplenia, Abnormal pupil morphology, Flexion contracture... |
ORPHA:261552 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... |
OMIM:614823 |
Thrombocytopenia-Absent Radius Syndrome |
|
Atrial septal defect, Cataract, Corneal opacity, Eosinophilia, Ventricular septal defect, Spina b... |
OMIM:274000 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Hearing impairment, Cryptorchid... |
ORPHA:284160 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Small for gestational age, Bicuspid aortic valve, Craniosynostosis, Valvular pulmon... |
OMIM:300707 |
Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Abnormal pinna morphology, Cataract, Osteoporosis, Low-set ears |
OMIM:601811 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Peritonitis, Leukocytosis, Elevated circulating creatinine concent... |
ORPHA:90038 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Loeys-Dietz Syndrome 1 |
|
Joint laxity, Atrial septal defect, Bicuspid aortic valve, Craniosynostosis, Arterial tortuosity,... |
OMIM:609192 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Aganglionic megacolon, Corneal opacity, Congenita... |
ORPHA:2059 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac... |
OMIM:602782 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati... |
OMIM:612852 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Small for gestational age, Malabsorption, Steatorrhea, Failure to thrive |
OMIM:557000 |
Mosaic Trisomy 8 |
|
Corneal opacity, Abnormal pinna morphology, Camptodactyly of finger, Cryptorchidism, Limitation o... |
ORPHA:96061 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
Adams-Oliver Syndrome |
|
Encephalocele, Cataract, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hep... |
ORPHA:974 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Uplifted earlobe, Asplenia, Flexion contracture, Pectus carinatum, Iris co... |
ORPHA:261537 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Patent d... |
ORPHA:77298 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Cataract, Primary adrenal insufficiency, Abnormal circul... |
ORPHA:3453 |
Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Corneal opacity, Osteolysis, Coarctation of aorta, A... |
ORPHA:1052 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, ... |
ORPHA:79396 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Cataract, Hypergonadotropic hypogonadism, Decreased r... |
ORPHA:79444 |
Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, EEG abnormality, Abnormal posturing, Weight loss |
ORPHA:157941 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, Thoracic scoliosis, Atrial septal defect, Card... |
ORPHA:79330 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Uplifted earlobe, Asplenia, Flexion contracture, Pectus carinatum, Conduct... |
ORPHA:2152 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Posteriorly rotated ears, Bicuspid aortic valve, Low-set ears, Campt... |
OMIM:618529 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... |
OMIM:300845 |
Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Grayish enamel, Ost... |
OMIM:253000 |
Triploidy |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Omphalocele, Cataract, Cryptorchidism, Abnormali... |
ORPHA:3376 |
Chime Syndrome |
|
Corneal opacity, Ventricular septal defect, Aplastic clavicle, Pulmonary valve atresia, Osteolysi... |
ORPHA:3474 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Tremor,... |
ORPHA:3455 |
Hunter-Macdonald Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Patent ductus arteriosus, Sensorineural hearing impairmen... |
OMIM:611962 |
Mucolipidosis Iii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Hyperopic astigmatism, Craniosynostosis, Short ribs, Opacifi... |
OMIM:252600 |
Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma |
OMIM:308100 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis |
ORPHA:1064 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Increased susceptibility to fractures, Weight loss, Pigm... |
ORPHA:216866 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... |
ORPHA:99027 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Flexion contracture of finger, Retinal detachment, Small for gestational age, ... |
ORPHA:464311 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypochole... |
ORPHA:90363 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Myocarditis, Leukocytosis, Hype... |
ORPHA:544482 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Inguinal hernia, Corneal opacity, Joint stiffness, Splenomegaly, Flexion contractur... |
OMIM:253200 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Cataract, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Insulin ... |
ORPHA:90153 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Abnormal capillary morphology, Abnormality of the peripheral ner... |
ORPHA:542643 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Premature Ovarian Failure 13 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Female infertility, Amen... |
OMIM:617442 |
Mucolipidosis Type Iv |
|
EEG abnormality, Corneal opacity, Abnormality of retinal pigmentation |
ORPHA:578 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Corneal opacity, Camptodactyly of finger |
ORPHA:1794 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Joint stiffness, Splenomegaly, Hernia, Opacification of the corn... |
ORPHA:583 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating c... |
OMIM:253800 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Septo-optic dysplasia, Cataract, Missing ribs, Cryptorchidism, Opt... |
ORPHA:3301 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity, Glenoid fossa hypoplasia, Horizontal inferior border of scapula, Short thorax, P... |
ORPHA:239 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Obesity, Low-set ears, Aniridia, Decreased testicular size |
OMIM:612469 |
Cartilage-Hair Hypoplasia |
|
Pectus carinatum, Hypocalcemia, Narrow chest, Neutropenia, Abnormal bone ossification, Low-set, p... |
ORPHA:175 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm o... |
ORPHA:97289 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Cataract, Posteriorly rotated ears, Facial palsy, Coarctation of ... |
ORPHA:2780 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Cataract, Abnormal dental enamel morphology, Abnormal circulating calcium-pho... |
ORPHA:2238 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Thyroid carcinoma, Patchy reduction of bone mineral density, Cortic... |
ORPHA:249 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Microphthalmia, Oc... |
OMIM:615145 |
Alagille Syndrome |
|
Keratoconus, Hepatomegaly, Ventricular septal defect, Corneal dystrophy, Cryptorchidism, Abnormal... |
ORPHA:52 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Corneal opacity, Splenomegaly, Retinal degeneration, Hearing impairment |
OMIM:272200 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... |
ORPHA:731 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... |
ORPHA:1806 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal rib morphology, Abnormal tricuspid valv... |
ORPHA:1354 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... |
OMIM:201810 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul... |
OMIM:619644 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Atrial septal defect, Corneal opacity, Ventricular septal defect,... |
OMIM:150250 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Corneal... |
ORPHA:91495 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Patent ductus arteriosus, Astigmatism, Conductive hearing impairment, Umbilical her... |
ORPHA:2095 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
Lathosterolosis |
|
Hepatomegaly, Failure to thrive, Cataract, Abnormal thoracic spine morphology, Intrahepatic chole... |
ORPHA:46059 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Multiple joint contractures, Small for gestational age, Anterior pituitary hyp... |
ORPHA:464306 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Osteoporosis, Xanthelasma, Abnormal circulating cholesterol concentr... |
OMIM:213700 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Synostosis of joints, Corneal opacity |
ORPHA:1234 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Rib segmentation abnormalities, Abnormal heart valve morpholog... |
ORPHA:280 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Recurrent fractures, Joint stiffn... |
ORPHA:636 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Inguinal hernia, Diabetes mellitus, Cataract, Cryptorchidism, Sensorineural hearing ... |
OMIM:616541 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
Gracile Bone Dysplasia |
|
Asplenia, Thin ribs, Decreased skull ossification, Hypocalcemia, Aniridia, Microphthalmia, Hypopl... |
OMIM:602361 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair... |
ORPHA:3226 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hypoplasia of the thymus, Neutropeni... |
OMIM:612541 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Opacification of the corneal stroma |
ORPHA:461 |
Olmsted Syndrome 1 |
|
Flexion contracture, Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Cataract, Rem... |
OMIM:619539 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... |
OMIM:240300 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Atrial septal defect, Hypothyroidism, Patent foramen ... |
OMIM:620005 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Pheochromocytoma,... |
ORPHA:1332 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Joint laxity, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, D... |
OMIM:229200 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Small for gestational age |
ORPHA:567983 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Abnormal... |
ORPHA:90308 |
Aspergillosis |
|
Osteomyelitis, Eosinophilia, Keratitis, Abnormal rib morphology, Hepatitis, Intracranial hemorrha... |
ORPHA:1163 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Perian... |
OMIM:619573 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Prominent superficial veins, Cataract, Posteriorly rotated ears, Inguinal hernia, Cry... |
OMIM:614438 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Low-se... |
OMIM:243605 |
Cadds |
|
Elevated hepatic transaminase, Cataract, Cholangitis, Adrenal hypoplasia, Sensorineural hearing i... |
ORPHA:369942 |
Grant Syndrome |
|
Abnormal rib morphology, Decreased skull ossification, Joint hyperflexibility, Narrow chest, Spre... |
ORPHA:2097 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Megalocornea, Hepatomegaly, Thorac... |
OMIM:252500 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Abnormality of neutrophils, Hearing impairment, Ocular albinism, Reduced bone mineral d... |
ORPHA:2720 |
22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia, Conductive hearing impai... |
ORPHA:567 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Fanconi Anemia |
|
Reduced bone mineral density, Leukopenia, Abnormality of the liver, Atrial septal defect, Abnorma... |
ORPHA:84 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Cataract, Recurrent fractures, Sensorineural hearing impairment, Optic atrophy... |
OMIM:268315 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Weight loss, Hematochezia,... |
ORPHA:2070 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hypoglycemia, Patent ductus arteriosus, Buphthalmos, Neutropenia, Atrial septal defec... |
OMIM:618005 |
Phaver Syndrome |
|
Posteriorly rotated ears, Camptodactyly of finger, Ventricular septal defect, Joint stiffness, Co... |
ORPHA:2876 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatic steatosis, Profound hearing impairment, Accessory splee... |
OMIM:619418 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... |
OMIM:616113 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Retinal detachment, Cataract, Abnormality of retinal... |
ORPHA:394 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-r... |
ORPHA:829 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Osteoporosis,... |
ORPHA:79259 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Cockayne Syndrome |
|
Congenital contracture, Lentiglobus, Retinal arteriolar constriction, Retinal degeneration, Inten... |
ORPHA:191 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Cystic angiomatosis of bone, Acute pancreatitis, Hepatomegaly, Hyp... |
OMIM:608594 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Pectus carinatum, Microcornea, Wrist flexion ... |
ORPHA:800 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal clavicle morphology, Increased bone mineral density, ... |
ORPHA:628 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Congenital... |
ORPHA:1488 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... |
OMIM:256040 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphology, Tremor,... |
ORPHA:667 |
Achondrogenesis Type 1B |
|
Femoral hernia, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Narrow c... |
ORPHA:93298 |
Limb Body Wall Complex |
|
Ventral hernia, Encephalocele, Corneal opacity, Ventricular septal defect, Congenital diaphragmat... |
ORPHA:2369 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Corneal crystals, G... |
ORPHA:411629 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Grange Syndrome |
|
Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Increased susceptibility to ... |
OMIM:602531 |
Gomez-Lopez-Hernandez Syndrome |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Craniosynostosis... |
OMIM:601853 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Join... |
OMIM:616881 |
Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Glucose intolerance, Decreased adipose tissue around neck, Pulmo... |
OMIM:606721 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Carpal synostosis, Increased bone mineral density, Cataract, Abnormal pinna morpholo... |
ORPHA:90652 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Small for gestational age, Dystonia, Hiatus hernia, Optic atrophy, Hypoplasia of the ir... |
OMIM:251300 |
Alg9-Cdg |
|
Villous atrophy, Gastroesophageal reflux, Bifid uvula |
ORPHA:79328 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Congenital diaphragmatic her... |
OMIM:309801 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Abnormal rib morphology, Abnormal cranial nerve morpholo... |
ORPHA:2345 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Digeorge Syndrome |
|
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypoc... |
OMIM:188400 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Sensorineural hearing impairment, Macrothrombocytopenia, Menorrhagia, Impaired platelet aggregati... |
OMIM:124900 |
Microphthalmia, Syndromic 1 |
|
Anophthalmia, Aganglionic megacolon, Abnormal pinna morphology, Down-sloping shoulders, Bicuspid ... |
OMIM:309800 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Xanthelasma, Opacification of the corneal stroma, Athero... |
ORPHA:425 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Pigment... |
OMIM:614230 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Scapular winging, Optic nerve hypoplasia, Decreased nerve co... |
ORPHA:101085 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Menorrhagia, Imp... |
ORPHA:274 |
Meckel Syndrome |
|
Accessory spleen, Low-set, posteriorly rotated ears, Encephalocele, Cataract, Pancreatic fibrosis... |
ORPHA:564 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Ophthalmomandibulomelic Dysplasia |
|
Abnormal thorax morphology, Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of th... |
OMIM:164900 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Osteomyelitis, Keratitis, Corneal scarring, A... |
OMIM:256800 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation, Abnormal clavicle morphology, Short thorax, Abnormal rib mor... |
ORPHA:474 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Umbilical hern... |
OMIM:601499 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... |
OMIM:615962 |
Spondyloocular Syndrome |
|
Osteopenia, Retinal detachment, Cataract, Unilateral cryptorchidism, Posteriorly rotated ears, Po... |
OMIM:605822 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Low-set ears |
ORPHA:276422 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Cataract, Thrombocytopenia, Abnormal thorax morphology, Reticulocyt... |
ORPHA:508542 |
Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Thoracic scoliosis, Abnormal pinna morphology, Camptodactyly of fi... |
ORPHA:1692 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic scapulae, Optic disc coloboma, Short clavicles, Opacification of the corneal stroma, ... |
OMIM:169550 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve conduction velocity, Op... |
ORPHA:206436 |
3Mc Syndrome 3 |
|
Abnormal pinna morphology, Corneal opacity, Cryptorchidism, Radioulnar synostosis, Auricular pit,... |
OMIM:248340 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:36238 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei... |
OMIM:617099 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia |
OMIM:616176 |
Acute Intermittent Porphyria |
|
Hyponatremia, Tremor, Hepatocellular carcinoma |
ORPHA:79276 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Esophageal carcinoma, Abnormal intestine morphology, Enterocolitis |
ORPHA:391487 |
Van Den Ende-Gupta Syndrome |
|
Hypoplastic scapulae, Posteriorly rotated ears, Glenoid fossa hypoplasia, Sclerocornea, Craniosyn... |
OMIM:600920 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Cataract, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... |
OMIM:269200 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C... |
ORPHA:54251 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Cockayne Syndrome Type 3 |
|
Flexion contracture, Microcornea, Lentiglobus, Adult onset sensorineural hearing impairment, Cond... |
ORPHA:90324 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint... |
OMIM:613658 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea, Protruding ear |
OMIM:268320 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypop... |
OMIM:100300 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Ventricular septal defect, Down-sloping shoulders, Joint stiffness,... |
ORPHA:392 |
Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Leukocytosis, O... |
ORPHA:96253 |
Peters Plus Syndrome |
|
Bicuspid pulmonary valve, Microcornea, Abnormal pulmonary vein morphology, Conductive hearing imp... |
ORPHA:709 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Facial palsy, Corneal opacity, Arthrogryposis multiplex congenita,... |
ORPHA:570 |
Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Aganglionic megacolon, Abnormal dental enamel morpho... |
ORPHA:818 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Omphalocele, Abnormality of retinal pigmentation, Cataract, Ve... |
ORPHA:3380 |
Vernal Keratoconjunctivitis |
|
Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea... |
ORPHA:70476 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... |
OMIM:608885 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Secundum atrial septal defec... |
OMIM:214800 |
Dent Disease |
|
Cataract, Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentratio... |
ORPHA:1652 |
Tyrosinemia Type 2 |
|
Tremor, Corneal opacity |
ORPHA:28378 |
Galactosialidosis |
|
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Cherry red ... |
OMIM:256540 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Failure to thrive, Anophthalmia, Corneal opacity, Abnormal d... |
ORPHA:2556 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Abnormal rib morphology, Decreased fertility... |
ORPHA:2234 |
Prune Belly Syndrome |
|
Ventricular septal defect, Pectus excavatum, Cryptorchidism, Patent ductus arteriosus, Abnormal r... |
ORPHA:2970 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Maternal diabetes, Cryptorchidism, Abnormal rib morphology, Rib fusion, Radiouln... |
ORPHA:1988 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Inguinal hernia, Corneal opacity, Dilatation of the ventricular cavity,... |
ORPHA:90348 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Cenani-Lenz Syndrome |
|
Cataract, Abnormal dental enamel morphology, Abnormal rib morphology, Protruding ear, Radioulnar ... |
ORPHA:3258 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Rib segmentation abnormalities, Inguinal hernia, Camptodactyly... |
ORPHA:2311 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ... |
OMIM:221800 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... |
OMIM:232220 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Sclerocornea |
OMIM:611038 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, ... |
ORPHA:2785 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Hy... |
OMIM:616026 |
Angioosteohypotrophic Syndrome |
|
Venous malformation, Abnormal trabecular bone morphology, Prominent superficial veins, Thin bony ... |
ORPHA:75508 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology, Abnormality of thrombocytes, Abnormal pla... |
ORPHA:903 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Abnormality of the spleen, Abnormal r... |
ORPHA:1834 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Cataract, Conjugated hyperbilirubinemia, Jaundice, Short thorax, He... |
ORPHA:168577 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Abnormal rib morphology, Coarctation of aorta, Anterior hypopituitarism, Cent... |
ORPHA:280195 |
Melnick-Needles Syndrome |
|
Omphalocele, Craniofacial hyperostosis, Short thorax, Abnormal rib morphology, Osteolytic defects... |
ORPHA:2484 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial medial hypertrophy, Osteoporosis, Elbow flexion contracture, Knee flexion cont... |
OMIM:601559 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Opacification of the corneal stroma |
OMIM:601356 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Keratitis, Cryptorchidism, Sens... |
ORPHA:910 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas... |
OMIM:158310 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Transient neutropenia, Cataract, Chronic neutropenia, Ventricular septal defect,... |
ORPHA:500095 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Venous insufficiency, Reduced bone mineral density, Arteriovenous malformati... |
ORPHA:137608 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Abnormal posturing, Dystonia, Titubation |
ORPHA:225147 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Paten... |
ORPHA:141099 |
Fryns Syndrome |
|
Omphalocele, Atrial septal defect, Ectopic pancreatic tissue, Aganglionic megacolon, Thoracic hyp... |
OMIM:229850 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Crypto... |
OMIM:610125 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Facial palsy... |
ORPHA:3068 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal rib morphology, Pectus carin... |
ORPHA:93351 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Anemia, Hiatus hernia |
ORPHA:71272 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Limitation of joint mobility, Shield chest, Opacification of the corneal str... |
OMIM:313400 |
Poland Syndrome |
|
Encephalocele, Diabetes mellitus, Dextrocardia, Congenital diaphragmatic hernia, Aplasia/Hypoplas... |
ORPHA:2911 |
Yunis-Varon Syndrome |
|
Aplasia/Hypoplasia of the clavicles, Atrial septal defect, Absent sternal ossification, Cataract,... |
ORPHA:3472 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Fused cervical vertebrae... |
ORPHA:2522 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
Menkes Disease |
|
Inguinal hernia, Osteomyelitis, Hypoglycemia, Recurrent fractures, Tarsal synostosis, Venous insu... |
ORPHA:565 |
Roberts-Sc Phocomelia Syndrome |
|
Knee flexion contracture, Coloboma, Atrial septal defect, Wrist flexion contracture, Accessory sp... |
OMIM:268300 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Microphthalmia, Small earlobe, Failure to thrive, Hearing impairment |
ORPHA:364577 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Failure to thrive, Protein-losing enteropathy |
ORPHA:79319 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
3-Methylglutaconic Aciduria, Type Viii |
|
Cataract, Dystonia, Tremor, Jaundice, Patent ductus arteriosus, Sensorineural hearing impairment,... |
OMIM:617248 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,... |
OMIM:260400 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Trisomy 1Q |
|
Omphalocele, Anophthalmia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphra... |
ORPHA:261344 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Anophthalmia, Sclerocornea, Precocious puberty, Microcornea, Coloboma, Ectopia pupillae... |
OMIM:615877 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto... |
OMIM:227650 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Conductive hearing impairment, Abnormal cornea morphology, Asplenia |
OMIM:244400 |
Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Cataract, Hypoglycemia, Cholangitis, Microvesicu... |
OMIM:124000 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormality of the spleen, Abnormality of the liver, Weight loss |
ORPHA:33276 |
Charge Syndrome |
|
Anophthalmia, Hypoplasia of the semicircular canal, Abnormality of bone mineral density, Choriore... |
ORPHA:138 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Small for gestational age, Sclerocornea, Patent ductus arteriosus, T... |
OMIM:619869 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contracture,... |
ORPHA:2908 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Cataract, Femoral hernia, Joint stiffness, Precocious... |
ORPHA:2588 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Posteriorly rotated ears, Abnormal auditory evoked... |
ORPHA:171929 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction |
ORPHA:206448 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... |
OMIM:253280 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Abnormal rib morphology, Pectus carinatum, Ab... |
ORPHA:3082 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Limitation of joint mobility, Abnormal ri... |
ORPHA:1486 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Small for gestational age, Scarring, Microcytic anemia, Keratitis, Le... |
ORPHA:99843 |
Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Microtia, Abnormal rib morphology, Craniosynostosis |
ORPHA:2145 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Cataract, Calcification of the auricular cartilage, Bilateral cryptorchidism, Pe... |
ORPHA:3042 |
Mednik Syndrome |
|
Cataract, Sensorineural hearing impairment, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased c... |
OMIM:609313 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Myelomeningocele, Short clavicles, Abnormal cerebral v... |
ORPHA:60015 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Cryptorchidism, Buphthalmos, Keratoco... |
ORPHA:495875 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Cholangitis, Intracranial hemorrhage, Neutrophilia, Leukocytosis, Dilated cardiomy... |
ORPHA:3260 |
Occipital Horn Syndrome |
|
Osteopenia, Venous insufficiency, Pectus carinatum, Narrow chest, Femoral hernia, Osteomalacia, S... |
ORPHA:198 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Legius Syndrome |
|
Cataract, Dystonia, Acute monocytic leukemia, Mitral valve prolapse, Xanthelasma, Vestibular schw... |
ORPHA:137605 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Inguinal hernia, Posteriorly rotated ears, Camptodactyly of finger, Pectus excavatum, Cryptorchid... |
ORPHA:2215 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Corneal opacity, Camptodactyly of finger, Corneal erosion, Microtia, Atresia of the ... |
ORPHA:920 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Abnormal rib morphology, Joint hyperflexibility, Atrial septal... |
ORPHA:2475 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral densi... |
ORPHA:47159 |
Bloom Syndrome |
|
Male infertility, Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes ... |
ORPHA:125 |
Monosomy 9Q22.3 |
|
Cataract, Large for gestational age, Pectus excavatum, Abnormal rib morphology, Cardiac fibroma, ... |
ORPHA:77301 |
Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Corneal opacity, Abnormal pinna morphology, Aplasia/Hypoplasia of th... |
OMIM:219000 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Pericarditis, Hypoglycemia, Elevated... |
ORPHA:99826 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Situs inversus totalis, Polysplenia, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Inguinal hernia, Abnormality of the menstrual cycle, Decreased nerve conduction velo... |
ORPHA:285 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Mi... |
OMIM:300952 |
Sotos Syndrome |
|
Neonatal hypoglycemia, Tremor, Flexion contracture, Conductive hearing impairment, Atrial septal ... |
ORPHA:821 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Failure to thrive, Small for gestational age |
OMIM:618252 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Dextrocardia, Male infertility, Situs inversus totalis |
OMIM:618948 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal rib morphology, Con... |
ORPHA:2519 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Posteriorly rotated ears, Corneal opacity, Ventricular septal defect, Sensorineural hearing impai... |
OMIM:608670 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Posteriorly rotated ears, Missing ribs, Abnormal rib morphology, Joint hyperflexibility, Abnormal... |
ORPHA:2759 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Abnormal rib morphology, Hearing impairment |
ORPHA:2578 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Elevated circulating creatine kinase concentration, Leukopenia, Conjunctivitis, Chole... |
ORPHA:99827 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta |
ORPHA:1797 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... |
ORPHA:64 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage, Abnormal cranial nerve... |
ORPHA:624 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Recurrent fractures, Abnormal dental enamel morphology, Down-sloping should... |
ORPHA:1452 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Campomelia, Cumming Type |
|
Hepatomegaly, Abnormally ossified vertebrae, Pancreatic cysts, Abnormality of the pancreas, Abnor... |
ORPHA:1318 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Corneal opacity, Aganglionic megacolon, Abnormal dental enamel morp... |
ORPHA:2273 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... |
ORPHA:99429 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Failure to thrive, Hypothyroid... |
OMIM:618999 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Transient ischemic attack, Patent ductus arteriosus, Pineal cyst, Microcorn... |
OMIM:600268 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abno... |
ORPHA:93941 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Abnormal rib morphology, Obesity, Low-set ears, Sprengel anomaly |
ORPHA:2180 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Occipital encephalocele, Elevated circulating creatine kinase concentration, Op... |
OMIM:615287 |
Unilateral Polymicrogyria |
|
Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke, Infantile sensorineural ... |
ORPHA:268943 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Pectus exca... |
OMIM:163950 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Barrel-shaped chest, Cataract, Ventricular septal defect, Recurrent fra... |
OMIM:259770 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Corneal crystals |
OMIM:219900 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Orthostatic hypotension, Uterine prolapse, Inguinal hernia, Hiatus hernia, Incisional... |
ORPHA:287 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic ... |
ORPHA:79076 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bilateral cryptorchidism, Patent foramen oval... |
OMIM:263650 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ... |
ORPHA:251510 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... |
ORPHA:8 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Conjunctivi... |
ORPHA:293173 |
Microphthalmia, Syndromic 6 |
|
Failure to thrive, Female hypogonadism, Posteriorly rotated ears, Adrenal hypoplasia, Sclerocorne... |
OMIM:607932 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Splenomegaly, Abnormally ossified vertebrae, Abnormal rib morphology |
ORPHA:3035 |
Milroy Disease |
|
Hydrocele testis, Varicose veins, Abnormal venous morphology, Cellulitis |
ORPHA:79452 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... |
ORPHA:90797 |
Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Encephalocele, Congenital diaphragmatic hernia, Spina ... |
ORPHA:991 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Camptodactyly of finger, Craniosynostosis... |
ORPHA:83 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Hypermobility of distal interphalangeal joints, Hypermobility of interphalangeal joints, Finger j... |
OMIM:130050 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Posteriorly rotated ears, Bicuspid aortic valve, Small for gestational age, Secundum atrial septa... |
OMIM:613355 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment, Azoospermia, Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Abnormal rib morphology, Abnormal earlobe m... |
ORPHA:2769 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Sensorineural hearing impairment, Abnormal rib morphology, Conductive h... |
OMIM:118100 |
Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... |
OMIM:187900 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology |
ORPHA:97330 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Omphalocele, Occipital encephalocele, Congenital diaphragmatic... |
ORPHA:887 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Abnormal rib morphology, Bell-shaped ... |
ORPHA:2021 |
Dextrocardia |
|
Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal rib morphology, Abnorma... |
ORPHA:1666 |
Simpson-Golabi-Behmel Syndrome |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Inguinal hernia, Omphalocele, Vertebral fusion, ... |
ORPHA:373 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Gjc2-Related Late-Onset Primary Lymphedema |
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Venous insufficiency, Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphat... |
ORPHA:568051 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar... |
ORPHA:3093 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Cranial hyperostosis, Spinal dysraphism, Lipoma, Venous malformation |
OMIM:612918 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Joint stiffness, Cryptorchidism, Abnormal rib morphology, Nonketotic hyperglycinemia, Popliteal p... |
ORPHA:1300 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Joint stiffness, Abnormal mesen... |
ORPHA:2167 |
Foix-Alajouanine Syndrome |
|
Myelopathy, Cervical myelopathy, Male sexual dysfunction, Arteriovenous fistula, Female sexual dy... |
ORPHA:79093 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Abnormal rib morphology, Keratoconjunctivitis, Joint hyperflexibility, O... |
ORPHA:2907 |
Yunis-Varon Syndrome |
|
Sclerocornea, Protruding ear, Small earlobe, Decreased skull ossification, Patent foramen ovale, ... |
OMIM:216340 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal rib morphology |
ORPHA:1506 |
Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal rib morphology, Tarsal synostosis, Camptodactyly of finger, Synostosis of carpal bones |
ORPHA:1836 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Townes-Brocks Syndrome |
|
Atrial septal defect, Cataract, Abnormal pulmonary valve morphology, External ear malformation, C... |
ORPHA:857 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Aortic valve atresia, Double outlet right ventricle, EEG abnormality, ... |
OMIM:619895 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Microphthalmia With Limb Anomalies |
|
Low-set, posteriorly rotated ears, Tarsal synostosis, Venous insufficiency, Cryptorchidism, Optic... |
ORPHA:1106 |
Juberg-Hayward Syndrome |
|
Radioulnar synostosis, Abnormal rib morphology |
ORPHA:2319 |
Pneumocystosis |
|
Weight loss, Abnormal neutrophil count |
ORPHA:723 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Abnormal cerebral vascular morphology, Hydrocele testis, Multiple lipomas, Microtia,... |
ORPHA:276280 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Symblepharon, Abnormal rib morphology, Spina bifida occult... |
ORPHA:488434 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Atrial septal defect, Inguinal hernia, Aganglionic megacolon, Keratitis, Cryptorchid... |
OMIM:308205 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, Apla... |
ORPHA:2554 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, ... |
OMIM:219700 |
Clapo Syndrome |
|
Pectus excavatum, Varicose veins, Narrow chest, Failure to thrive, Venous malformation |
ORPHA:168984 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ... |
ORPHA:99829 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus, Dextrocardia, Situs inversus totalis |
OMIM:619607 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Cryptorchidism, Limitation of joint mobility, Abnormal rib morph... |
ORPHA:261112 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Tinnitus, Opacification of the corneal stroma, Hearing impairment |
ORPHA:79280 |
Cole-Carpenter Syndrome |
|
Joint hyperflexibility, Abnormal rib morphology, Recurrent fractures, Abnormal dental enamel morp... |
ORPHA:2050 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnor... |
OMIM:192350 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
Ulbright-Hodes Syndrome |
|
Abnormal pinna morphology, Maternal diabetes, Cryptorchidism, Humeroradial synostosis, Abnormal r... |
ORPHA:3404 |
Radio-Renal Syndrome |
|
Abnormal rib morphology |
ORPHA:3015 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology |
ORPHA:93317 |
Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |