| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... |
OMIM:103500 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Impaired vibratory sensation, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Positive... |
ORPHA:94125 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
| Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:275400 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis |
OMIM:620086 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Increased circulati... |
OMIM:613179 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... |
ORPHA:324575 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
| Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Agita... |
ORPHA:276608 |
| Waardenburg Syndrome, Type 2F |
|
Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White for... |
OMIM:619947 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Hypoplasia of the pons, Optic atrophy, Microcornea,... |
OMIM:616171 |
| Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Deeply set eye, Heterochromia iridis |
OMIM:143000 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Agitation, Palp... |
ORPHA:276580 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hy... |
OMIM:277900 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Microphthalmia, Orbital cyst, Coloboma |
OMIM:251505 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... |
ORPHA:1473 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Cataract, Confusion, Dyspnea, Depression, Irritability, Hyperphos... |
ORPHA:36913 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Highly arched eyebrow, Hypertelorism, Pigmentary retinopathy, Molar to... |
OMIM:617121 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Progressive Hemifacial Atrophy |
|
Deeply set eye, Irregular hyperpigmentation, Heterochromia iridis, Ptosis |
ORPHA:1214 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Syncope, Agita... |
ORPHA:276556 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Agitation, Palpitations, Fasting h... |
ORPHA:276575 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
| Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Retinal detachment, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Progressive neurologic deterioration, Cerebral hemorrhage, Congestive hear... |
ORPHA:90065 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Igg4-Related Ophthalmic Disease |
|
Palpebral edema, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, Keratiti... |
ORPHA:449563 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,... |
ORPHA:1390 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... |
OMIM:607271 |
| Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Respiratory insufficiency, Leukopen... |
OMIM:613845 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Hypert... |
ORPHA:85194 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, ST segment elevation, Ventricular tachycardia, Right bundle branch block, Card... |
ORPHA:263297 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoporosis, Obesity, Depression, Memory impairment, Hyperostosis frontalis interna, Hyperuricem... |
ORPHA:77296 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, Ataxia, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation |
ORPHA:79476 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... |
ORPHA:94093 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Enlargement of paro... |
ORPHA:79078 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I... |
OMIM:300400 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Hypertelorism, Brushfield spots, Blepharophimosis, Upper eyelid coloboma, ... |
ORPHA:1791 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Intention tre... |
OMIM:610539 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceride... |
OMIM:203800 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Trimethylaminuria |
|
Hypertension, Tachycardia, Depression |
OMIM:602079 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Anorexia, Leukocytosis, Tachypnea, Hyperammonemia, Weight loss, Agitation, Hyperuri... |
ORPHA:134 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Iris hypopigmentation, Abnormality of macular pigmentation, Hypogonadi... |
ORPHA:97229 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Anorexia, Hypothermia, Le... |
ORPHA:20 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Cataract, Microcornea, Upslanted palpebral fissure, Hypogonadism, Microphthalmia |
ORPHA:2528 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... |
OMIM:619802 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin... |
OMIM:277580 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recu... |
OMIM:619824 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Cataract, Dyspnea, Diaphyseal sclerosis, Depression, ... |
ORPHA:94089 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Hypoplasia of the brainstem, Ataxia, Retinal dysplasia |
OMIM:615771 |
| Pseudohypoparathyroidism Type 1A |
|
Reduced bone mineral density, Choreoathetosis, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79443 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Cryptorchidism, Retinal coloboma, Hypogonadism, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... |
ORPHA:324416 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Cryptorchidism, Retinal coloboma, Hypogonadism, Microphthalmia, Rod-cone dystrophy |
ORPHA:363741 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Somatic sensory dysfunction, Diabetes mellitus, Cardiomyopathy, Progressive gait at... |
ORPHA:1177 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Cryptorchidism, Blue irides, Hypopigmented skin patches, Prematur... |
OMIM:613266 |
| Coproporphyria, Hereditary |
|
Hypertension, Tachycardia, Confusion, Depression |
OMIM:121300 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration |
OMIM:251700 |
| Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Microphthalmia, Retinal dysplasia, Coloboma |
OMIM:615665 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Woolly Hair |
|
Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars... |
ORPHA:170 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Narrow palpebral ... |
OMIM:615145 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... |
OMIM:267760 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Cataract, Confusion, Dyspnea, Obesity, Depression, Ir... |
ORPHA:79444 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog... |
ORPHA:891 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U... |
OMIM:221900 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
OMIM:300915 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Respiratory failure requiring assisted ventilation, Optic atro... |
ORPHA:1187 |
| Usher Syndrome Type 3 |
|
Cataract, Ataxia, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
| Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Macular scar, Hydroxyprolinemia, Osteoporosis, Angioi... |
OMIM:239000 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Paresthesia, Impaired d... |
ORPHA:90064 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Hypertelorism, Abnormality iris morphology, Coloboma, Microphthalmia, Downslanted palpe... |
ORPHA:1617 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Hypoplasia of the b... |
OMIM:615181 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Decreased circulating total IgM, Neutropenia, Enamel hypoplasia, Decreased circulating ... |
ORPHA:2643 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalce... |
OMIM:612462 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Anorexia, Tachypnea, Hyperammonemia, Weight loss, Keratoconjunctivitis, Irr... |
ORPHA:79242 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Retinal dystrophy, Obesity, Hyperuricemia, Attention deficit hyperactivity disorder, Rod-cone dys... |
ORPHA:261222 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A... |
OMIM:300310 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia, Impaired pain sensation |
OMIM:167400 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Intermittent hyperventilation,... |
ORPHA:348 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Cognitive impairme... |
OMIM:103580 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Cranial hyperostosis, Osteoporosis, Optic atrophy, Hyperuric... |
ORPHA:2801 |
| Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio... |
OMIM:618459 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... |
ORPHA:2885 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Tachycardia, Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysp... |
ORPHA:79264 |
| Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity, Ataxia, Hypertelorism, Abnormal brainstem morphology |
ORPHA:1532 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Osteomalacia, Elevated circulati... |
OMIM:227810 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Decreased circulating IgG level, Abnormal immunoglobulin level, Increased T cell coun... |
ORPHA:98813 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g... |
OMIM:261750 |
| Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... |
ORPHA:36238 |
| Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the liver, Hyperuricemia, ... |
ORPHA:543 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Malaria |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirub... |
ORPHA:673 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag... |
OMIM:127000 |
| Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Epicanthus, Rod-cone dystrophy, Downslanted palpebral fissures |
OMIM:300804 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
| Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal punctum, Elevated circulating ... |
ORPHA:572333 |
| Cat-Eye Syndrome |
|
Hypertelorism, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:195 |
| Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia... |
OMIM:620085 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Usher Syndrome Type 1 |
|
Cataract, Ataxia, Iris hypopigmentation |
ORPHA:231169 |
| Immunodeficiency 70 |
|
Decreased circulating antibody level, Retinal vasculitis, Decreased circulating total IgA, Decrea... |
OMIM:618969 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Confusion, Myocardial infarction, Rig... |
ORPHA:97292 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... |
OMIM:232800 |
| Deafness-Hypogonadism Syndrome |
|
Epicanthus, Hypergonadotropic hypogonadism, Hypertelorism, Abnormal spermatogenesis, Congenital s... |
ORPHA:90646 |
| Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... |
OMIM:619281 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Dystonia, Anorexia, Thrombocytopenia, Splenomegaly, Optic atr... |
ORPHA:79312 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... |
ORPHA:79083 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Highly arched eyebrow, Ptosis |
OMIM:618763 |
| Avian Influenza |
|
Respiratory distress, Elevated hepatic transaminase, Elevated circulating creatine kinase concent... |
ORPHA:454836 |
| Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Optic atrophy, Abnormal brainstem morphology, Proptosis, Long eyelashes, L... |
ORPHA:411493 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Weight loss, Decreased circulating antibody... |
ORPHA:90362 |
| Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity |
ORPHA:2432 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
| Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Elevated hepatic transaminase, Increased circulating interleukin 6 concentr... |
ORPHA:340 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Dystonia, Apnea, Thrombocytopenia, Tachypnea, Osteoporosis, Hyperammo... |
OMIM:606054 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... |
OMIM:619707 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypogonadism, Microphthalmia |
ORPHA:1466 |
| Immunodeficiency 27A |
|
Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Weight loss, Hepat... |
OMIM:209950 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Failure to thrive, Macrocy... |
ORPHA:199299 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating acylcarnitine concentration, Optic atrophy, Dystonia, ... |
ORPHA:26792 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Hyperuricemia, Anemia |
ORPHA:371 |
| Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Coloboma, Retinal dystrophy, Hypertelorism |
OMIM:614465 |
| Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... |
OMIM:152950 |
| Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Hypertelorism, Sparse eyebrow, Upper ey... |
OMIM:167730 |
| Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Almond-shaped palpebral fissure, Optic nerve hypoplasia |
OMIM:619582 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Leukop... |
OMIM:620210 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Microphthalmia, Optic atrophy, Lethargy |
OMIM:274270 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricu... |
OMIM:212138 |
| Joubert Syndrome 6 |
|
Ataxia, Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Bile duct proliferat... |
OMIM:610688 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... |
OMIM:616636 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613500 |
| Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Large for gestational age, Rickets, Hy... |
OMIM:616026 |
| Premature Ovarian Failure 12 |
|
Macular dystrophy, Microphthalmia, Primary amenorrhea |
OMIM:616947 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Inability to walk, Developmental cataract, Hypoplasia of the brainstem, Microp... |
OMIM:613155 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Epistaxis, Chronic neutropenia, Hyperlipidemia, O... |
ORPHA:79259 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia, Cognitive impairment |
ORPHA:364 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Hypoplasia of the pons, Coloboma, Hypoplasia of th... |
OMIM:613153 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
| Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Telecanthus, Hypopigmented skin patches, Premature graying of hair, Whi... |
ORPHA:895 |
| Joubert Syndrome 13 |
|
Molar tooth sign on MRI |
OMIM:614173 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Hypouricemia, Ectopia lentis, Lens luxation, Opisthotonus, Irritability |
OMIM:252160 |
| Joubert Syndrome 14 |
|
Epicanthus, Ataxia, Morning glory anomaly, Hypertelorism, Highly arched eyebrow, Optic atrophy, D... |
OMIM:614424 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Iris hypopigmentation |
ORPHA:67048 |
| Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Cataract, Retinal dystrophy, Astigmatism |
OMIM:612285 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, E... |
OMIM:204000 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Epicanthus, Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B l... |
OMIM:614069 |
| Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the p... |
ORPHA:2969 |
| Joubert Syndrome 15 |
|
Retinal dystrophy, Ataxia, Coloboma, Molar tooth sign on MRI, Retinopathy |
OMIM:614464 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Failure to thrive in infancy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low ... |
OMIM:618987 |
| Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Bradykinesia, Progressive cerebella... |
ORPHA:248111 |
| Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Self-mutilation, Hyperuricemia |
OMIM:308950 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Coloboma, Shallow orbits, Microphthalmia, G... |
OMIM:617306 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dystonia, O... |
OMIM:264470 |
| Linear Verrucous Nevus Syndrome |
|
Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosphatemia, Mental dete... |
ORPHA:2611 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Pancytopenia, Autoimmune hemolytic anemia, Pneumonia, Chronic ne... |
OMIM:614700 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level, Optic atrophy, Corneal dystrophy, Developmental cataract |
ORPHA:2572 |
| Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypertelorism, Cryptorchidism, Blue irides, Hypotelorism, Downslanted palpebral... |
OMIM:300978 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tachycardia, Hypoesthesia, Memory impairment, Hyperglycemia |
OMIM:619737 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failu... |
OMIM:615838 |
| Lissencephaly 8 |
|
Microphthalmia, Hypoplasia of the brainstem, Cataract, Optic atrophy |
OMIM:617255 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Joubert Syndrome 3 |
|
Epicanthus, Retinal dystrophy, Ataxia, Highly arched eyebrow, Pigmentary retinopathy, Molar tooth... |
OMIM:608629 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating... |
OMIM:212065 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Hypertelorism, Brushfield spots, Cryptorchidism, Optic ner... |
OMIM:214110 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Bronchiectasis, Decreased circu... |
OMIM:617638 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Iris hypop... |
ORPHA:177910 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm... |
ORPHA:331206 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
| Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Reduced bone mineral density, Depression, Hyperphosphatemia, Hypoc... |
ORPHA:428 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... |
OMIM:617514 |
| Phenylketonuria |
|
Fair hair, Generalized hypopigmentation, Cataract, Blue irides |
OMIM:261600 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Cataract, Ataxia |
OMIM:278780 |
| Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Elevated hepatic transaminase, Epicanthus, Partial absence of s... |
ORPHA:79324 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic fibrosis, Hypochole... |
ORPHA:14 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Warburg Micro Syndrome 1 |
|
Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Deeply set eye, Microphthalmi... |
OMIM:600118 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Accessory spl... |
OMIM:620005 |
| Temtamy Syndrome |
|
Telecanthus, Hypertelorism, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:1777 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hypopigmentation of hair, Ataxia, Hypopigmentation of the skin, Iris hypopigmen... |
ORPHA:411515 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Ataxia, White hair, Ocular albinism, Abnormal brainstem morphology, Generalized hypopig... |
ORPHA:2720 |
| Cockayne Syndrome |
|
Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Inten... |
ORPHA:191 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Waardenburg Syndrome, Type 3 |
|
Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray... |
OMIM:148820 |
| Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Iridocyclitis, Enlarged lacrimal glands, Uveitis, Chorioretinitis, Abnormal sal... |
OMIM:181000 |
| Lesch-Nyhan Syndrome |
|
Hyperuricemia, Anemia |
ORPHA:510 |
| Dubowitz Syndrome |
|
Decreased circulating IgG level, Short attention span, Inguinal hernia, Epicanthus, Aplastic anem... |
OMIM:223370 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Neonatal respiratory distress, Lacrimal duct stenosis, Optic nerve hypoplasia, Palpeb... |
ORPHA:221139 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
| Sanjad-Sakati Syndrome |
|
Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Hyperphosphatemia, Ast... |
ORPHA:2323 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Retinal detachment, Epicanthus, Decreased circulating IgG level, Small for ... |
OMIM:607143 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Progressive neurologic deterioration, Hyperinsulinemia, Glycosuria, Agitation, Fasti... |
ORPHA:263455 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... |
ORPHA:247585 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Dysphagia |
OMIM:255100 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Epicanthus, Unsteady gait, Blue irides, Dysmetria, Upslanted palpebral fissure, Deeply set eye, H... |
ORPHA:3041 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Entropion, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re... |
OMIM:615113 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
| Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, Partial albinism, White eyebrow, Thick eyebrow, Hypertelorism, Syno... |
OMIM:193500 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Bilateral microphthalmos, Developmental cataract, Anemia, Cortical thickening of lon... |
ORPHA:93325 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Asthma, Recurrent pneumonia, Increased circulating IgE level, Br... |
OMIM:619752 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Dystonia, Aniso... |
OMIM:618278 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Hepatomegaly, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Tachypnea, Hyperhomocystinemia, Normo... |
OMIM:614857 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia... |
ORPHA:370959 |
| Joubert Syndrome 35 |
|
Telecanthus, Ataxia, Highly arched eyebrow, Synophrys, Molar tooth sign on MRI, Elongated superio... |
OMIM:618161 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
| 8Q21.11 Microdeletion Syndrome |
|
Ptosis, Epicanthus, Cataract, Corneal opacity, Sclerocornea, Hypertelorism, Cryptorchidism, Bleph... |
ORPHA:284160 |
| Xanthinuria, Type Ii |
|
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia |
OMIM:603592 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... |
ORPHA:178320 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... |
ORPHA:3214 |
| Variegate Porphyria |
|
Tachycardia |
OMIM:176200 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Hypopla... |
OMIM:611584 |
| Leber Hereditary Optic Neuropathy |
|
Arrhythmia, Ataxia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Failure to thrive in infancy, Microcytic anemia, Elevated circulating ala... |
OMIM:618805 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Angioid streaks of the fundus, Conjunctival whitish salt-like deposits, Hyperostosis,... |
OMIM:211900 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Waddling gait, Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative... |
ORPHA:2788 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... |
ORPHA:2334 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Lethargy |
OMIM:605899 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Hypertelorism |
ORPHA:166024 |
| Squalene Synthase Deficiency |
|
Epicanthus, Failure to thrive in infancy, Optic nerve hypoplasia, Increased circulating farnesol ... |
OMIM:618156 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... |
OMIM:603552 |
| Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Myopic astigmatism, Blue ... |
OMIM:614077 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Dyspnea, Splenomegaly, Increased mean corpuscular hemoglobin co... |
ORPHA:90041 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... |
OMIM:619386 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi... |
OMIM:308240 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Congestiv... |
ORPHA:466677 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epicanthus, Small for gestational age, Neonatal epiphyseal stippling, Optic atrophy, Blue irides,... |
OMIM:101800 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia, Anemia |
OMIM:613092 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Increased body weight, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:614727 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Ataxia, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Peripartum Cardiomyopathy |
|
Tachycardia, Diabetes mellitus, Right ventricular failure, Cardiogenic shock, Congestive heart fa... |
ORPHA:563 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Very long chain fatty acid accumulation, Retinal dystrophy, Rod-cone dystrophy, Ele... |
OMIM:266510 |
| Sneddon Syndrome |
|
Tremor, Decreased circulating total IgM, Atrophic scars, Mental deterioration, Lymphopenia |
OMIM:182410 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination def... |
OMIM:619172 |
| Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Retinopathy, Ataxia |
OMIM:617562 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris... |
OMIM:610883 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypercalcemi... |
ORPHA:95409 |
| Immunodeficiency 32B |
|
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B... |
OMIM:226990 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Opisthotonus, Ectopia lentis, Hypouricemia, Lens luxation |
OMIM:252150 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Hepatomegaly, Apnea, Optic atrophy, Hepatosplenomegaly, De... |
ORPHA:79330 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Asthma, Recurrent pneumonia, Increased circulating IgE level, Bronchiectasis, Incre... |
OMIM:243700 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Microphthalmia, Hypocalcemic seizures |
OMIM:241410 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
| Joubert Syndrome 20 |
|
Molar tooth sign on MRI, Inability to walk, Retinopathy |
OMIM:614970 |
| Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Social and oc... |
ORPHA:98818 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Failure to thrive in infancy, T lymphocytopenia, Decreased circu... |
OMIM:619510 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart fail... |
ORPHA:49827 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion, Decreased proportion of class-switched memory B cells, Decreased circu... |
OMIM:614878 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Ataxia, Hypogonadotropic hypogonadism, Dysmetria, Microcornea, Long eyelashes, Micropht... |
ORPHA:48431 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura... |
OMIM:606069 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Blue irides |
OMIM:615516 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circulating total IgM, Decreased circulatin... |
OMIM:618394 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
| Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Epicanthus, Ataxia, ... |
OMIM:267750 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... |
OMIM:620282 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy... |
ORPHA:436159 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Episodic tach... |
OMIM:615160 |
| Short Syndrome |
|
Posterior embryotoxon, Telecanthus, Corneal opacity, Hypertelorism, Abnormal pupil morphology, Hy... |
ORPHA:3163 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Dystonia, Optic atrophy, Hyperammonemia, Anemia, Choreoatheto... |
ORPHA:289916 |
| Joubert Syndrome 33 |
|
Cone/cone-rod dystrophy, Ataxia, Molar tooth sign on MRI |
OMIM:617767 |
| Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Vaginal hydrocele, Developmental... |
ORPHA:2119 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Elevated circulating C-reactive protein concentration, Increased circulating IgA lev... |
OMIM:615934 |
| Igg4-Related Submandibular Gland Disease |
|
Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland... |
ORPHA:449432 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Hypertelorism, Abnormal eyelash morph... |
ORPHA:2399 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ataxia, Ectropion, Cryptorchidism, Ocular al... |
ORPHA:2719 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Lacrimal duct atresia, Iris coloboma |
ORPHA:139450 |
| Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Ataxia |
OMIM:616781 |
| Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Metrorrhagia, Albinism, Ocular albinism, Iris transillumination defect, ... |
OMIM:614074 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Epicanthus, Decreased circulating antibody level |
OMIM:616911 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Tachycardia, Hypoglycemia, Irritability |
OMIM:229700 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Hypertelorism, Abnormal pupil morphology, Microcornea, Blepharophimo... |
ORPHA:3374 |
| Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys, Aplasia/Hypoplasia affecting the eye |
ORPHA:1895 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
| Cystinosis |
|
Corneal opacity, Portal hypertension, Abnormal repetitive mannerisms, Rickets, Hypokalemia, Hypop... |
ORPHA:213 |
| Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... |
ORPHA:209956 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Coloboma, Hypoplasia of the brainstem, Microphthalmia, Retinal ... |
OMIM:615249 |
| Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Retinopathy, Ataxia, Gait ataxia |
OMIM:617120 |
| Free Sialic Acid Storage Disease |
|
Ataxia, Abnormality of skin pigmentation, Athetosis, Gait disturbance, Iris hypopigmentation |
ORPHA:834 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Joubert Syndrome 7 |
|
Retinal dystrophy, Brainstem dysplasia, Ataxia, Hypoplasia of the brainstem, Molar tooth sign on ... |
OMIM:611560 |
| Cln3 Disease |
|
Ataxia, Aggressive behavior, Loss of ambulation, Depression, Bradykinesia, T-wave inversion, Deme... |
ORPHA:228346 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... |
OMIM:612526 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentration, Decreased pla... |
OMIM:619048 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Cataract, Optic disc pallor, Cryptorchidism |
OMIM:613730 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... |
ORPHA:905 |
| Alexander Disease |
|
Microcoria, Ataxia, Dysmetria |
OMIM:203450 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Decreased circulating complement C4 concentra... |
ORPHA:90060 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Severe B lymphocytopenia, Pneumonia, Aplasia... |
OMIM:102700 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Anophthalmia, Abnormal repetitive mannerisms |
ORPHA:411986 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Joubert Syndrome With Ocular Defect |
|
Retinal dystrophy, Ataxia, Highly arched eyebrow, Gait disturbance, Retinal coloboma, Molar tooth... |
ORPHA:220493 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Ptosis, Epicanthus, Reduced forced expiratory v... |
OMIM:108145 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator... |
OMIM:616414 |
| Atelis Syndrome 1 |
|
Cataract, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Anemia, Leu... |
OMIM:620184 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Epicanthus, Telecanthus, Thrombocytopenia, Splenomegaly, Flex... |
OMIM:617303 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Epicanthus, Cataract, Hypertelorism, Inability to walk, Narrow palpebral fissure, Astigmatism, Re... |
OMIM:618571 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Failur... |
OMIM:610377 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Confusion, Anorexia, Splenomegaly, Jaundice, Respiratory insuffic... |
ORPHA:108 |
| Acrofrontofacionasal Dysostosis |
|
Hypertelorism, Brushfield spots, Hypopigmented skin patches, Eyelid coloboma, Downslanted palpebr... |
ORPHA:1784 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Abscess, Thrombocytopenia, Retinal vasculitis, Decreased circula... |
OMIM:615758 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
| Sarcoidosis |
|
Cataract, Parotitis, Dacryocystitis, Enlarged lacrimal glands, Uveitis, Enlargement of parotid gl... |
ORPHA:797 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Selective Igm Deficiency |
|
Fasciitis, Paraproteinemia, Decreased proportion of transitional B cells, Decreased proportion of... |
ORPHA:331235 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Hyperlipidemia, Synophrys, Obesity, Upslanted palpebral fissure, Long eyelashes, Bru... |
ORPHA:289522 |
| Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Abnormality of glycolipid metabolism, Hyperkalemia, Highly elevate... |
ORPHA:99845 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Hyperuricemia |
OMIM:609886 |
| Addison Disease |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Failure to thrive, Salt cr... |
ORPHA:85138 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Small for gestational age, Ele... |
ORPHA:26793 |
| Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Retinal dysplasia |
OMIM:614830 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Coach Syndrome 2 |
|
Molar tooth sign on MRI, Coloboma, Chorioretinal coloboma |
OMIM:619111 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
| Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Retinal detachment, Cataract |
ORPHA:627 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hepatic failure, Elevated circulating creatinine concentration, Incre... |
OMIM:617872 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Immunodeficiency 95 |
|
Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin... |
OMIM:619773 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Pierpont Syndrome |
|
Telecanthus, Hypertelorism, Cryptorchidism, Microcornea, Deeply set eye, Narrow palpebral fissure... |
ORPHA:487825 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cataract, Retinal dystrophy, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin... |
ORPHA:139471 |
| Zellweger Syndrome |
|
Epicanthus, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Crypt... |
ORPHA:912 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Steatorrh... |
ORPHA:71 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, In... |
OMIM:618048 |
| Proboscis Lateralis |
|
Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali... |
ORPHA:141099 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla... |
OMIM:275350 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c... |
OMIM:616834 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulati... |
ORPHA:470 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Osteoporosis, Xanthelasma, Hyperuric... |
OMIM:232200 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Crackles, Portal hypertension, Nodular regenerative hyperplasia of... |
ORPHA:210136 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Rhabdoid Tumor |
|
Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Weight loss, Neoplasm of the liver, I... |
ORPHA:69077 |
| Tularemia |
|
Respiratory distress, Brain abscess, Pneumonia, Conjunctival hyperemia, Confusion, Thrombocytopen... |
ORPHA:3392 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Alacrima, Congenital, Autosomal Dominant |
|
Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia |
OMIM:103420 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cataract, Elevated circulating creatine kinase concentration, Fron... |
ORPHA:52430 |
| Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhyp... |
OMIM:269840 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
| Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Lipodystrophy, Ele... |
OMIM:613327 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Restr... |
OMIM:619013 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Anorexia, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Respiratory insufficiency, Hype... |
ORPHA:27 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Pierpont Syndrome |
|
Telecanthus, Hypertelorism, Cryptorchidism, Microcornea, Deeply set eye, Narrow palpebral fissure... |
OMIM:602342 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Cryptorchidism, Hyp... |
ORPHA:2363 |
| Joubert Syndrome 2 |
|
Retinal dystrophy, Ataxia, Brainstem dysplasia, Hypertelorism, Optic disc coloboma, Hypoplasia of... |
OMIM:608091 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ... |
ORPHA:125 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... |
OMIM:612158 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Retinal dystrophy, C... |
OMIM:610125 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Thrombocytopenia, Recurrent pneumonia, Neutrope... |
ORPHA:47 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Neo... |
ORPHA:420741 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy, Molar tooth sign on MRI, Ptosis |
OMIM:612291 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
| Lesch-Nyhan Syndrome |
|
Dystonia, Megaloblastic anemia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Hyperuric... |
OMIM:300322 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Crackles, Confusion, Tachypnea, Hyperkalemia,... |
ORPHA:466650 |
| Temtamy Syndrome |
|
Highly arched eyebrow, Ectopia lentis, Lens luxation, Hypertelorism, Chorioretinal coloboma, Micr... |
OMIM:218340 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e... |
OMIM:615877 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia, Epicanthus |
OMIM:613506 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J... |
ORPHA:137675 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... |
ORPHA:3205 |
| Glycogen Storage Disease V |
|
Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Noonan Syndrome 13 |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Almond-shaped palpebral fissure, Cryptorchidism... |
OMIM:619087 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:3222 |
| Acquired Methemoglobinemia |
|
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Joubert Syndrome With Oculorenal Defect |
|
Ataxia, Retinal dystrophy, Highly arched eyebrow, Chorioretinal coloboma, Molar tooth sign on MRI... |
ORPHA:2318 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Cataract |
ORPHA:291 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Hypomagne... |
ORPHA:398063 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri... |
ORPHA:858 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Ect... |
ORPHA:101330 |
| Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
| Citrullinemia Type I |
|
Torticollis, Tachypnea, Hyperammonemia, Hepatic failure, Elevated plasma citrulline, Failure to t... |
ORPHA:247525 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Bronchiectasis |
OMIM:615139 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... |
OMIM:604169 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium in... |
ORPHA:572 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Dilated cardiomyopathy, Ventricular tachycardia, Hypoketotic hypoglycemia |
OMIM:600649 |
| Hereditary Xanthinuria |
|
Hypouricemia, Hyperxanthinemia |
ORPHA:3467 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Synophrys, Decreased circulating IgG level, Decreased circulatin... |
OMIM:300861 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Hypertelorism, Optic disc colobo... |
ORPHA:2995 |
| Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, P... |
ORPHA:36234 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia, Unilateral narrow palpebr... |
OMIM:618727 |
| Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Blepharophimosis, ... |
ORPHA:233 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... |
OMIM:269400 |
| Serotonin Syndrome |
|
Restlessness, Tachycardia, Confusion, Hypertension, Irritability, Agitation, Hypotension, Mental ... |
ORPHA:43116 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly,... |
OMIM:612301 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, T lymphocyto... |
OMIM:615513 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Progressive loss of facial adipose tissue, Decreased circulating complement C3 concentration, Los... |
OMIM:608709 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Maternal diabetes, Raynaud phenomenon, Insulin resistance, L... |
ORPHA:358 |
| Joubert Syndrome 37 |
|
Hypertelorism, Cryptorchidism, Deeply set eye, Molar tooth sign on MRI, Microphthalmia, Decreased... |
OMIM:619185 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Warburg Micro Syndrome 4 |
|
Inability to walk, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Deeply set... |
OMIM:615663 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Bronchiectasis, A... |
OMIM:300755 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair, White hair, H... |
ORPHA:381 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Hyperlipidemia, J... |
ORPHA:444490 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia |
OMIM:267900 |
| Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Cellulitis |
ORPHA:280062 |
| Riboflavin Deficiency |
|
Lethargy, Hypothermia |
OMIM:615026 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Epicanthus, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Res... |
ORPHA:2257 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Coloboma |
OMIM:613094 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Decreased circulating complement C3 concentration, Lipoatrophy, Lymphocytosis |
ORPHA:79087 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Epicanthus, Retinal dystrophy, Ataxia, Brainstem dysplasia, Highly arched eyeb... |
OMIM:213300 |
| Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Microcornea, Deeply set eye, Iris coloboma, Hooded upper eyelid, Hypopl... |
OMIM:619539 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia |
ORPHA:2714 |
| Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Microcornea, Blepharophimosis, Microphthalmia, Short palpebral fissure |
OMIM:601349 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Progressive neurologic deterioration, Respiratory failure, Decreased liver ... |
ORPHA:70472 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Re... |
OMIM:603553 |
| Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Retinal dystrophy, Ptosis |
OMIM:617622 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hyperte... |
OMIM:149730 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Abnormal macrophage morphology, Hypothermia, Thrombocytopenia, Leukocytosis... |
ORPHA:292 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Tachypnea, Optic atrophy, Respiratory insufficiency, Respirat... |
OMIM:614299 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell ... |
OMIM:616050 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:617765 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dyspnea, Ta... |
ORPHA:79126 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:94090 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Cataract, Hypertelorism, Retinal pigment epithelial mottling, Microphthalmia, Downsla... |
OMIM:614105 |
| Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Broad-based gait, Ptosis, Ataxia, Inability to walk, Optic atroph... |
ORPHA:72 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... |
OMIM:120200 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Dyspnea, Splenomegaly, Tachypnea, Hypophosphatemia, Poly... |
OMIM:239200 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioven... |
OMIM:310300 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Telecanthus, Synophrys, White hair, Hyp... |
ORPHA:894 |
| Trisomy 9P |
|
Deeply set eye, Abnormal pupil morphology, Downslanted palpebral fissures, Hypertelorism |
ORPHA:236 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Cataract, Remnants of the hya... |
OMIM:609049 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level |
OMIM:235550 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated ... |
OMIM:212140 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613424 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Hypercapnia, Tachypnea, Hyperkalemia, Hyperphosphatemia, Elevated creatine... |
ORPHA:423 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Leukopenia, Irritability, Athetosis, Neutropenia, Failure... |
OMIM:229050 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, C... |
ORPHA:3077 |
| Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Craniosynostosis, Abnormal eyelid mor... |
ORPHA:525731 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Lymphopenia, Hepatomegaly, Sinusitis, Lipodystrophy, Hypertriglyce... |
OMIM:617591 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte... |
OMIM:619487 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tremor, Tongue thrusting, Pill-r... |
ORPHA:3095 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Dec... |
ORPHA:90363 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Upslanted palpebral fissure, Astigmatism, Long palpebral fissure, Microphthalmia, Spars... |
OMIM:619694 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
| Wyburn-Mason Syndrome |
|
Proptosis, Retinal vascular malformation, Iris hypopigmentation |
ORPHA:53719 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, M... |
ORPHA:290 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Cataract, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Chronic hepat... |
ORPHA:469 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Tachypnea, Hyperammonemia, Hepa... |
OMIM:201475 |
| Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Corneal astigmatism, Abnormal lacrimal sac morphology, Ectropi... |
ORPHA:141083 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Epicanthus, Cataract, Hypertelorism, Long palpebral fissure, Microphthalmia, ... |
ORPHA:163649 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Noonan Syndrome 4 |
|
Epicanthus, Hypertelorism, Sparse eyebrow, Cryptorchidism, Bilateral ptosis, Blue irides, Downsla... |
OMIM:610733 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Epicanthus, Elevated circulating creat... |
OMIM:614576 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Hepatomegaly, Craniosynostosis, Decreased proportion of CD8-posi... |
ORPHA:508533 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, ... |
ORPHA:449285 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia, Ankyloblepharon, Sclerocornea |
OMIM:611038 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... |
OMIM:300257 |
| Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Hypertelorism, Abnormal eyelash morphology, Cryptorchidism, Optic atroph... |
OMIM:147791 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Cataract, Progressive psychomotor deterioration, Epiphyseal stippling... |
ORPHA:251009 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior cham... |
OMIM:602482 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Hypertelorism, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Microphthalmia |
OMIM:612379 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Bronchiectasis, Decreased circulating total I... |
OMIM:210900 |
| Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Cryptorchidism, Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, B... |
ORPHA:494344 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Leukocy... |
OMIM:259720 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Leukocoria |
OMIM:219250 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Ataxia, Thickened superior cereb... |
OMIM:609583 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Ankle flexion contracture, Abnormal erythrocyte enzyme lev... |
ORPHA:100924 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Microcornea, Deeply set eye, Persistent pupi... |
OMIM:257850 |
| Pyruvate Dehydrogenase Deficiency |
|
Epicanthus, Tremor, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, ... |
ORPHA:765 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Ectopia lentis, Osteoporosis, Hyperhomocystinemia, Depression, Lens subluxation,... |
OMIM:236200 |
| Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
| Trisomy 13 |
|
Anophthalmia, Cataract, Abnormal retinal vascular morphology, Abnormal eyelash morphology, Crypto... |
ORPHA:3378 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Cataract, Retinal dys... |
ORPHA:899 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Neonatal respiratory distress, Epicanthus, Telecanthus, Sparse eyebrow, Microc... |
OMIM:244450 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Epistaxis, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Confusion, Tach... |
ORPHA:542323 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Cardiac arrest, Hypoglycemia, Oral-pharyngeal dysphagia, Ventricular tachycardia, Gait at... |
OMIM:616878 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kin... |
ORPHA:79322 |
| Hypomagnesemia 3, Renal |
|
Astigmatism, Hyperuricemia, Hypomagnesemia, Polydipsia, Failure to thrive |
OMIM:248250 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Cryptorchidism, Fair hair, Blue irides |
OMIM:614613 |
| Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus |
OMIM:300500 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc... |
OMIM:619381 |
| Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Tremor, Decreased circulating IgA level, Decreased circulating antibody level, Decreased serum cr... |
OMIM:617744 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Confusion, Dyspnea, Microangiopathic hemolytic anemia, Decreased serum creatinin... |
ORPHA:54057 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypothermia |
OMIM:610006 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy, Nasolacrimal duct... |
ORPHA:440727 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Epicanthus, Cataract, Hypertelorism, Brushfield spots, Cryptorchidism, Unstead... |
OMIM:214100 |
| Familial Dysautonomia |
|
Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Gait disturba... |
ORPHA:1764 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
| Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Tachypnea, Compulsive behaviors, Hypoglutaminemia, Hepatomegaly, Elevated plasm... |
ORPHA:3008 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Ataxia, Aggressive behavior, Chorea, Dilated cardiomyopathy, Gait ataxia, Irritabili... |
OMIM:618321 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemi... |
OMIM:232240 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... |
OMIM:619827 |
| Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Anemia |
ORPHA:517 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hyperlipidemia, Osteoporosis, Increased ... |
ORPHA:369 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Microphthalmia, Axi... |
OMIM:619339 |
| Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Hypertelorism |
OMIM:617127 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ectropion, Micronodular cirrho... |
ORPHA:98907 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Usher Syndrome Type 2 |
|
Cataract, Ataxia, Iris hypopigmentation |
ORPHA:231178 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Irritability, Dystonia, Thrombocytopenia |
OMIM:615010 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased... |
ORPHA:3337 |
| 16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Tachycardia, Attention deficit hyperactivity disorder, Skin-picking |
ORPHA:485405 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Tachypnea, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Cough, Emphys... |
OMIM:613658 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, T lymphocytopenia, B lymphocytopenia, Conjunctivitis, Failure to th... |
OMIM:601457 |
| Sengers Syndrome |
|
Osteopenia, Cataract, Respiratory insufficiency, Developmental cataract, Mental deterioration, Pu... |
OMIM:212350 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Sensory ataxia, Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradyc... |
OMIM:609286 |
| Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Ataxia, Hypertelorism |
OMIM:617757 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Decreased circulating antibody level, Conjunctivitis, Neutropenia,... |
OMIM:616740 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglobus, Compulsive behavi... |
ORPHA:534 |
| Tetanus |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Tremor, Tachypnea, Opis... |
ORPHA:3299 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Cataract, Small for gestational age, Abnormality of ... |
ORPHA:79325 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis |
ORPHA:126 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Ataxia, Narcolepsy, Depression, Dementia, Type II diabetes mellitus, Memory impairment |
OMIM:604121 |
| Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy... |
ORPHA:98795 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular tachycardia, Cardiomyopathy, Irritability, Hypotension, Fasting hypoglycemia, Letharg... |
ORPHA:159 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,... |
ORPHA:411511 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Abnormality of the extraocular muscles, Dem... |
ORPHA:298 |
| Curry-Jones Syndrome |
|
Hypertelorism, Optic disc coloboma, Hypopigmented skin patches, Microphthalmia, Iris coloboma |
ORPHA:1553 |
| Angelman Syndrome |
|
Broad-based gait, Ataxia, Blue irides, Deeply set eye, Progressive gait ataxia, Fair hair, Hypopi... |
OMIM:105830 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Adams-Oliver Syndrome 2 |
|
Hypertelorism, Optic atrophy, Developmental cataract, Narrow palpebral fissure, Microphthalmia |
OMIM:614219 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op... |
ORPHA:649 |
| Roifman Syndrome |
|
Hip contracture, Retinal dystrophy, Eosinophilia, Delayed proximal femoral epiphyseal ossificatio... |
ORPHA:353298 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c... |
ORPHA:158061 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Reduced bone mineral density, Hypotriglyceridemia, Hepatomegaly... |
ORPHA:404454 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... |
OMIM:246700 |
| Orofaciodigital Syndrome Xvi |
|
Ataxia, Inability to walk, Molar tooth sign on MRI, Retinopathy, Short palpebral fissure, Ptosis |
OMIM:617563 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma, Decreased circulating antibody level |
ORPHA:1116 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes... |
OMIM:615980 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Irritability, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Pneumonia, Eosinophilia, Anorexia, Recurrent pneumonia, Hepatiti... |
ORPHA:169160 |
| Otodental Syndrome |
|
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:2791 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Retinal dysplasia, Hernia, N... |
OMIM:617052 |
| Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Truncal ataxia |
OMIM:617761 |
| Timothy Syndrome |
|
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Bradycardia... |
OMIM:601005 |
| Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Posterior subcapsular cataract, Iridescent po... |
OMIM:602668 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul... |
OMIM:619644 |
| Coach Syndrome 3 |
|
Molar tooth sign on MRI, Ataxia, Ptosis |
OMIM:619113 |
| Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology |
ORPHA:280195 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Levator palpebrae superioris atr... |
ORPHA:45358 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Hypertelorism, Brushfield spots, Cryptorchidism, Optic ner... |
OMIM:614866 |
| Hypertrichosis Cubiti |
|
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... |
ORPHA:2220 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia, Dystonia |
ORPHA:79233 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Epicanthus, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone... |
OMIM:277440 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy, Ataxia, Abnormal brainstem morphology, Elongated superior cer... |
ORPHA:370022 |
| Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Elevated cir... |
ORPHA:275555 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein c... |
ORPHA:91547 |
| Frontonasal Dysplasia 1 |
|
Epicanthus, Cataract, Hypertelorism, Coloboma, Microphthalmia, Ptosis |
OMIM:136760 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... |
ORPHA:3226 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... |
ORPHA:540 |
| Baraitser-Winter Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Chorioretinal coloboma, Long pa... |
OMIM:243310 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... |
OMIM:613873 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Self-injurious behavior, Athetosis |
ORPHA:382 |
| Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Hypertelorism, Coloboma, Long palpebral fissure, Microphthalm... |
OMIM:614583 |
| Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Cherry red spot of the... |
ORPHA:355 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, Recurrent pneum... |
OMIM:619750 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Telecanthus, Small for gestational age, Elevated cir... |
OMIM:301056 |
| Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Small for gestational age, Corneal opacity, Impaired T cell function, Abnormal lymph... |
ORPHA:1830 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, De... |
OMIM:614643 |
| Biotinidase Deficiency |
|
Hepatomegaly, Apnea, Splenomegaly, Tachypnea, Optic atrophy, Hyperammonemia, Conjunctivitis |
OMIM:253260 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Ataxia, Microphthalmia, Retinopathy, Ptosis |
ORPHA:773 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Hyperuricemia |
OMIM:162000 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
| Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopi... |
ORPHA:167 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Friedreich Ataxia |
|
Impaired vibratory sensation, Abnormal EKG, Diabetes mellitus, Ataxia, Congestive heart failure, ... |
OMIM:229300 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Cataract, Dystonia, Tremor, Flexion contracture, Recurrent pneumonia, Opist... |
OMIM:616271 |
| Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Highly arched eyebrow, Ectopia lentis, Microcornea, Microphthalmia,... |
ORPHA:2712 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Lacrimal gland hypoplasia, Absent lacrimal punctum, Lacrimal gland aplasia |
OMIM:180920 |
| Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Chorioretinal coloboma, Dysphagia |
ORPHA:163961 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Congestive hea... |
ORPHA:31826 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Thrombocytope... |
ORPHA:505248 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Warburg Micro Syndrome 3 |
|
Cataract, Inability to walk, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior... |
OMIM:614222 |
| Coach Syndrome 1 |
|
Optic disc pallor, Ataxia, Hypertelorism, Coloboma, Molar tooth sign on MRI, Ptosis |
OMIM:216360 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypertelorism, Hypoplasia of the iris, Anteri... |
ORPHA:96125 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabeculae,... |
OMIM:264700 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus, Depression |
OMIM:184850 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Elevated circulating creatine kinase concentration, Increased muscle lipid content, Knee f... |
OMIM:608836 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Hepatic fai... |
OMIM:615486 |
| Osteopoikilosis And Dacryocystitis |
|
Dacryocystitis |
OMIM:166705 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Hypotelorism |
OMIM:218670 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Menometrorrhagia, Ocular albinism, Melanocy... |
ORPHA:79430 |
| Lacrimal Duct Defect |
|
Dacryocystitis, Lacrimal duct atresia, Dacryocystocele, Conjunctivitis |
OMIM:149700 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Decreased circulating complement C3 conc... |
OMIM:301080 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Sparse eyelashes, Bilateral ptosis, Decreased circulating total ... |
OMIM:620040 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Respiratory distress, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglyc... |
OMIM:251000 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Confusion, Tachypnea, Chorioretinal atrophy, Hepatit... |
ORPHA:415 |
| Joubert Syndrome With Renal Defect |
|
Ataxia, Highly arched eyebrow, Gait disturbance, Molar tooth sign on MRI, Iris coloboma, Ptosis |
ORPHA:220497 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Decreased circulating t... |
OMIM:619774 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocysti... |
ORPHA:79282 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia, Agitation |
OMIM:613870 |
| Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Hypertelorism, Cryptorchidism, Abnormal pupil morphology, Deeply ... |
ORPHA:52 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Progressive neurologic deterioration, Hypothermia, Chorioretinal h... |
OMIM:618329 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Upslanted palpebral f... |
ORPHA:369837 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Bone cyst, Cirrhosis, Hyp... |
ORPHA:528 |
| Drug-Induced Lupus Erythematosus |
|
Decreased circulating complement C4 concentration, Elevated circulating creatine kinase concentra... |
ORPHA:231111 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia, Optic disc pallor, Highly arched eyebrow, Hypertelorism |
OMIM:300887 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Abnormal respiratory system physiology, Hepatosplenomegaly, Abnormal circulatin... |
ORPHA:101028 |
| Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Hypertelorism, Bilateral cryptorchidism, Coloboma, Peters anomaly, Microphthalmia |
OMIM:618652 |
| Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia |
OMIM:189800 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cataract, Retinal dystrophy, Abnormal brainstem morphology, Buphthalmos, Abnormal pons morphology |
ORPHA:370997 |
| Dent Disease 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:300555 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Restrictive ventilatory defect, Abnormal c... |
ORPHA:369840 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteo... |
ORPHA:98850 |
| Autosomal Agammaglobulinemia |
|
Epicanthus, Sinusitis, Cellulitis, Neutropenia, Bronchiectasis, Hepatitis, Agammaglobulinemia, Co... |
ORPHA:33110 |
| Trichinellosis |
|
Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea m... |
ORPHA:863 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Cataract, Small for gestational age, Progressive neurologic deterioration, Fle... |
OMIM:214150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Osteoporosis, Pigmentary retinopathy, Macrovesicular hepatic steatosis, Failure to ... |
OMIM:618234 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Freckling, Ataxia, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia |
OMIM:610651 |
| Juvenile Xanthogranuloma |
|
Uveitis, Asymmetry of iris pigmentation, Proptosis, Iritis, Multiple cafe-au-lait spots, Blepharitis |
ORPHA:158000 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Ataxia, Silver-gray hair, Ocular albinism, Giant melanosomes in melanoc... |
OMIM:214500 |
| Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased c... |
OMIM:601859 |
| Adult Krabbe Disease |
|
Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Ab... |
ORPHA:206448 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Hypertelorism, Cryptorchidism, Pigmentary retinopathy, Microp... |
OMIM:614230 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Dec... |
OMIM:229200 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Camptodactyly of finger, Tachypnea, Degeneration of anterior horn cell... |
OMIM:604320 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia |
OMIM:619302 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Cryptorch... |
OMIM:236670 |
| Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Epicanthus, Cataract, Elevated circulating creatine... |
OMIM:242840 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:601214 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Camptodactyly, Dysphagia, Pulmonary arterial hypertension, Thrombocytopenia |
OMIM:619751 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Coloboma |
ORPHA:141333 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Dyspnea, Thro... |
OMIM:242900 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr... |
ORPHA:397596 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
| Mercury Poisoning |
|
Tachycardia, Confusion, Anorexia, Hypertension, Hypotension |
ORPHA:330021 |
| Cystinosis, Nephropathic |
|
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Hypona... |
OMIM:219800 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... |
ORPHA:2348 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Optic atrophy, Decreased fertility, Microcornea, Keratoconjunctivit... |
OMIM:234050 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Dystonia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia, Dystonia |
OMIM:619301 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive beh... |
ORPHA:401777 |
| Spinocerebellar Ataxia Type 1 |
|
Optic atrophy, Abnormal brainstem morphology, Dysmetria, Bradykinesia, Progressive cerebellar ata... |
ORPHA:98755 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... |
OMIM:610333 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Buphthalmos, Hypoplasia of the brainstem, Persistent pupillary membrane, Peters anomaly... |
OMIM:613150 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachycardia, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventricular outflow... |
ORPHA:860 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Small for gestational age, Hyperuricemia, Downslanted palpebral fissures, Ptosis |
OMIM:300661 |
| Farber Disease |
|
Respiratory distress, Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaund... |
ORPHA:333 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Dyspnea, Abnormality of iron homeostasis, Anemia |
ORPHA:75563 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T lymphocytopenia, B lymp... |
OMIM:618108 |
| Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Jaundice, Intermittent jaundice, Hyperbiliru... |
ORPHA:3111 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Prolidase Deficiency |
|
Hepatomegaly, Chronic lung disease, Elevated circulating aspartate aminotransferase concentration... |
OMIM:170100 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Allergic rhinitis, Asthma, Conjunctivitis |
OMIM:603165 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cataract, Pneumothorax, Opisthotonus, Choreoathetosis, Respiratory... |
ORPHA:445038 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Telecanthus, Anemia, Leukopenia, Bone marrow hypocellularity, Attention d... |
OMIM:619151 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Confusion, Portal inflammation, Elevated circulating alanine aminotransfera... |
OMIM:603471 |
| Kid Syndrome |
|
Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Keratoconjun... |
ORPHA:477 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... |
OMIM:312863 |
| Whim Syndrome 1 |
|
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia |
OMIM:193670 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Chorea, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity disorder,... |
OMIM:617600 |
| Warburg Micro Syndrome 2 |
|
Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Deeply set eye, Mic... |
OMIM:614225 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Spontaneous Periodic Hypothermia |
|
Ataxia, Hypothermia, Gait disturbance |
ORPHA:29822 |
| Ramos-Arroyo Syndrome |
|
Hypertelorism, Keratitis, Absent retinal pigment epithelium, Dacryocystitis, Chorioretinal atroph... |
ORPHA:1051 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Abnormality... |
ORPHA:210110 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Lymphopeni... |
ORPHA:276 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment, Anophthalmia, Cataract, Chorioretinal dy... |
ORPHA:2526 |
| Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Hypokalemia,... |
ORPHA:411629 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase c... |
ORPHA:2088 |
| Immunodeficiency, Common Variable, 10 |
|
Asthma, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circ... |
OMIM:615577 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Hypothermia |
OMIM:618557 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Acute Intermittent Porphyria |
|
Restlessness, Tachycardia, Somatic sensory dysfunction, Confusion, Depression, Hypertension, Pseu... |
ORPHA:79276 |
| Bresek Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Iris coloboma, Decreased testicular size |
ORPHA:85284 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjun... |
OMIM:240500 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Microcytic anemia, Abnormal optic disc morphology, Decreased corneal thick... |
ORPHA:293967 |
| Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
| Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Ataxia, Abnormal retinal morphology |
OMIM:614615 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... |
ORPHA:790 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Gait imbalance, Hypopigmentation of the skin,... |
ORPHA:98794 |
| Cockayne Syndrome Type 2 |
|
Difficulty walking, Anophthalmia, Ataxia, Gait disturbance |
ORPHA:90322 |
| Atelis Syndrome 2 |
|
Epicanthus, Remnants of the hyaloid vascular system, Dysmetria, Developmental cataract, Vitreous ... |
OMIM:620185 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures,... |
ORPHA:2959 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Abnor... |
ORPHA:90051 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
| Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Ocular albinism, Menorrhagia, Albinism |
OMIM:614073 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia, Cataract, Hypertelorism |
ORPHA:93267 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Increase... |
OMIM:110100 |
| Branchio-Oculo-Facial Syndrome |
|
Cataract, Nasolacrimal duct obstruction, Microcornea, Premature graying of hair, Coloboma, Upslan... |
ORPHA:1297 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Cataract, Increased circulating IgA level, Developmental cataract, Neutropenia... |
OMIM:616395 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Hepatomegaly, Developmental cataract, Hypocholesterolemia |
OMIM:618810 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis |
OMIM:613877 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Ataxia, Entropion, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivit... |
OMIM:278730 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Osteopetrosis, Fail... |
OMIM:615085 |
| 19P13.12 Microdeletion Syndrome |
|
Epicanthus, Hyperactivity, Craniosynostosis, Hyperlipidemia, Synophrys, Obesity, Self-injurious b... |
ORPHA:254346 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Small for gestational age, Elevated circulating creatine kinase concentration, Hypot... |
OMIM:618775 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia, Cataract, Deeply set eye, Developmental cataract |
OMIM:610756 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Osteoporosis, Hepatosplenomegaly, C... |
ORPHA:231226 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen... |
OMIM:231000 |
| Moebius Syndrome |
|
Epicanthus, Hypogonadotropic hypogonadism, Hypertelorism, Congenital fibrosis of extraocular musc... |
OMIM:157900 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... |
ORPHA:33355 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Optic atrophy |
ORPHA:1528 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:614582 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachyp... |
ORPHA:2872 |
| Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... |
ORPHA:2134 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Synophrys, Hypopigmented skin... |
ORPHA:3440 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
| Rett Syndrome |
|
Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Abnormal T-wave, Motor deterioration, Prolong... |
OMIM:312750 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Epicanthus, Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia,... |
OMIM:619743 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla... |
ORPHA:98826 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
| Ravine Syndrome |
|
Ataxia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased c... |
OMIM:603909 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Epicanthus, Biliary tract abnormality, Obesity, Respiratory insufficiency, Micro... |
ORPHA:3191 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Failure to thrive, Tremor, Decreased circulating antibody level, C... |
ORPHA:100 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert... |
OMIM:615381 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti... |
ORPHA:2137 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Ataxia, Optic atrophy, Hyperpigmentation of the skin |
OMIM:231550 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Tachypnea, Spherocy... |
ORPHA:71275 |
| Hydroxykynureninuria |
|
Tachycardia, Abnormal repetitive mannerisms, Hypotension |
ORPHA:79155 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly,... |
ORPHA:77293 |
| Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bo... |
ORPHA:289157 |
| Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Anorexia, Hypersplenism, ... |
ORPHA:77259 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hyperuricemia, Hyperbiliru... |
OMIM:229600 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Pneumonia, Abnormality of neutrophils, Thromboc... |
ORPHA:229717 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... |
OMIM:618986 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Upslanted palpebral fissure, Absent lacrimal punctum, Hypoplastic lacrimal duct, Cryptorchidism |
OMIM:273390 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Long eyebrows, Hypertelorism, Optic atrophy, Long eyelashes, S-shaped palpebral fis... |
OMIM:201180 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
| Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Corneal erosion, Osteoporosis, Corneal scarring, Keratoglo... |
ORPHA:90354 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... |
ORPHA:99901 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Impaired pain sensation, Inability to walk, Chor... |
ORPHA:500180 |
| Orbital Margin, Hypoplasia Of |
|
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly |
OMIM:165600 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Leukopenia, Hy... |
ORPHA:99826 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Keratoconus, Decreased circulating ceruloplasmin concentration, De... |
OMIM:242150 |
| Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,... |
OMIM:600081 |
| Eisenmenger Syndrome |
|
Respiratory distress, Brain abscess, Hepatomegaly, Elevated circulating C-reactive protein concen... |
ORPHA:97214 |
| Japanese Encephalitis |
|
Hyponatremia, Respiratory distress, Neutrophilia, Anorexia, Tremor, Paucity of anterior horn moto... |
ORPHA:79139 |
| Aregenerative Anemia |
|
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, D... |
ORPHA:101096 |
| Koolen-De Vries Syndrome |
|
Ptosis, Epicanthus, Cataract, Cryptorchidism, Hypotelorism, Upslanted palpebral fissure, Blepharo... |
OMIM:610443 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thicknes... |
OMIM:614170 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Leukopenia, Abnor... |
ORPHA:1304 |
| Joubert Syndrome 23 |
|
Coloboma, Tachypnea, Apnea |
OMIM:616490 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Craniosynostosis, Thrombocytopenia, S... |
OMIM:259700 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... |
ORPHA:275761 |
| Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypertelorism, Microcornea, Deeply set eye, Peter... |
OMIM:243605 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Elevated circulating aspartate aminotransferase concentration, Hyp... |
OMIM:245400 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Megaloblastic anemia, Tremor, Optic atrophy, Pigmentary retinopat... |
OMIM:222300 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Neutropen... |
OMIM:617475 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Increas... |
ORPHA:100024 |
| Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Rhegmatogenous reti... |
ORPHA:364055 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Abnormal circulating calcium concentration, Nonproductive cough, Dyspnea, Tachypnea... |
ORPHA:60025 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i... |
ORPHA:90658 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Hypertelorism, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microphthalmia... |
ORPHA:2717 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone... |
OMIM:241530 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Os... |
ORPHA:231214 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma |
OMIM:600251 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:177907 |
| Cholera |
|
Tachycardia, Hypoglycemia, Irritability, Hypovolemic shock, Hypotension, Lethargy |
ORPHA:173 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Overlap Myositis |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Leukopenia, Ab... |
ORPHA:206572 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Abnormal iris pigmentation |
OMIM:132900 |
| Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Hepatic steatosis, Obesity |
OMIM:615996 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
| Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment, Nasolacrimal duct obstruction |
ORPHA:3218 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Tachycardia, Internal hemorrhage |
ORPHA:335 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Dystonia, Crackles, Asthma, Tachypnea, Wheez... |
OMIM:610978 |
| Craniofacial-Deafness-Hand Syndrome |
|
Blepharophimosis, Downslanted palpebral fissures, Lacrimal duct atresia, Hypertelorism |
ORPHA:1529 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia |
OMIM:616570 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Cataract, Elevated circulating creatine kinase ... |
OMIM:253800 |
| Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
| Porphyria, Acute Intermittent |
|
Hypertension, Tachycardia, Paresthesia, Depression |
OMIM:176000 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Mydriasis |
ORPHA:247815 |
| Hartsfield Syndrome |
|
Telecanthus, Hypertelorism, Microphthalmia, Downslanted palpebral fissures, Ptosis |
ORPHA:2117 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Pneumonia, Abscess, Anorexia, Leukocytosis, Peritonit... |
ORPHA:810 |
| Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
| Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Optic atrophy, Oromandibular dystonia, Dysphagia, Focal d... |
ORPHA:52368 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... |
OMIM:613690 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Apnea, Low plasma citrulline, Optic atrophy, Elevated circulating alanine aminotran... |
OMIM:261680 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Lymphopenia, Decreased circulating IgG level, Sinusitis, Elevated ci... |
OMIM:208900 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neu... |
ORPHA:811 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Retinopathy |
OMIM:615119 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Liver abscess, Pneumonia, Allergic rhinitis, Cholangitis, Asthma, Recurrent pneu... |
ORPHA:183675 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma |
ORPHA:2328 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Macular degeneration, Hepatic fibrosis... |
ORPHA:48818 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Cough, Elevated hepatic iron concen... |
OMIM:619991 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus |
OMIM:614171 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Osteomalacia, Primary hypercortisolism, Fibrous dysplasia of the bones, Hepatitis, ... |
ORPHA:562 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... |
OMIM:608104 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
| Mmep Syndrome |
|
Microphthalmia, Cryptorchidism |
ORPHA:3434 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Epicanthus, Hypertriglyceridemia, Failure to thrive in infancy, M... |
OMIM:619418 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Pneumonia, Increased circulating ferritin concentra... |
OMIM:615846 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Dyspnea, Hepatitis, Dysphagia, Leukopenia, Increased circulating antibody lev... |
ORPHA:319218 |
| Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Ataxia, Hypertelorism, Optic atrophy, Hypoplasia of the iris, Hypoplasia of... |
OMIM:251300 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... |
OMIM:610163 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ... |
ORPHA:3240 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Retina... |
ORPHA:2510 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Diabetes mellitus, Aggressive behavior, Depression, Hyperten... |
ORPHA:449291 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Hepatomegaly, Thrombocytopenia, Hyper... |
OMIM:251110 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:616576 |
| Arima Syndrome |
|
Hepatomegaly, Retinal dystrophy, Dyspnea, Tachypnea, Optic atrophy, Hepatic fibrosis, Chorioretin... |
OMIM:243910 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Hypertelorism, Cryptorchidism, Dacryocystitis, Pseudohypoparathyroidism, Deeply set eye, Coloboma |
ORPHA:464288 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Hypertrophic cardiomyopathy, Tachycardia, Dysphagia |
ORPHA:368 |
| Trichothiodystrophy |
|
Osteopenia, Multiple joint contractures, Microcornea, Macular degeneration, Conjunctivitis, Neutr... |
ORPHA:33364 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
| Roifman-Chitayat Syndrome |
|
Optic atrophy, Lacrimal duct stenosis, Hypertelorism |
OMIM:613328 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Anorexia, T... |
ORPHA:297 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decrease... |
ORPHA:169154 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Anorexia, Productive cough, Thrombocytopenia, Leukocytosis, Weight loss,... |
ORPHA:520 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Osteoporosis, Rickets, Weight loss, Depression,... |
OMIM:212750 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Microphthalmia, Iris... |
ORPHA:3301 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Elevated hepatic transaminase, Resting tremor, Confusion, Elevated circulat... |
ORPHA:319213 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Increased circulating I... |
ORPHA:37748 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Respiratory insufficiency, Dystonia, Hyperalaninemia, Decreased level of coenzyme Q1... |
OMIM:614654 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... |
OMIM:616433 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Synophrys, Coloboma, Tics, Compulsive behaviors, Chorioretinal coloboma, Juvenile cataract, Hepat... |
OMIM:619475 |
| Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... |
OMIM:618261 |
| Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Hyperuricemia, Thick eyebrow |
ORPHA:2769 |
| Slc35A2-Cdg |
|
Inability to walk, Hypopigmentation of the skin, Abnormal midbrain morphology, Atrophy/Degenerati... |
ORPHA:356961 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Leukocytosis, Abnormal blood ion concentration, Cardiorespira... |
ORPHA:31824 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Hepatomegaly, Tremor, Thrombocytopeni... |
OMIM:251100 |
| Aicardi-Goutieres Syndrome 5 |
|
Irritability, Flexion contracture, Thrombocytopenia, Increased circulating interferon-gamma conce... |
OMIM:612952 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Leukopenia, Respiratory failure, Increased circulating IgG level, ... |
ORPHA:83313 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Decreased DLCO, Emphysema, Hypophosphatemia |
OMIM:618913 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Apnea,... |
ORPHA:17 |
| Ritscher-Schinzel Syndrome 3 |
|
Highly arched eyebrow, Hypertelorism, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Dow... |
OMIM:619135 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Epistaxis, Giant platelets, Macrothrombocytopenia, Neutrophil inclusi... |
OMIM:155100 |
| Ddost-Cdg |
|
Osteopenia, Elevated hepatic transaminase, Lipodystrophy, Tremor, Failure to thrive, Hepatic stea... |
ORPHA:300536 |
| Kapur-Toriello Syndrome |
|
Cataract, Cryptorchidism, Retinal coloboma, Microphthalmia, Iris coloboma |
OMIM:244300 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Asthma, Cholestasis, Reduced bone mineral density, Weight loss,... |
OMIM:619377 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Corneal opacity, Cataract, At... |
ORPHA:636 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Hepatomegaly, Epicanthus, Apl... |
ORPHA:175 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Delayed epiphyseal ossification, Tachypnea, Small for gestationa... |
OMIM:613320 |
| Microphthalmia, Lenz Type |
|
Cataract, Cryptorchidism, Optic disc coloboma, Ankyloblepharon, Microcornea, Chorioretinal colobo... |
ORPHA:568 |
| Meningococcal Meningitis |
|
Papilledema, Neonatal respiratory distress, Elevated circulating C-reactive protein concentration... |
ORPHA:33475 |
| Warburg-Cinotti Syndrome |
|
Epicanthus, Retinal dystrophy, Symblepharon, Ankle flexion contracture, Pneumothorax, Elbow flexi... |
OMIM:618175 |
| Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Epicanthus, Small for gestational age, Highly arched eyebrow, Develop... |
OMIM:618804 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Abnormal brainstem M... |
ORPHA:68 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protei... |
OMIM:615688 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosph... |
ORPHA:93160 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Epicanthus, Downslanted palpebral fissures, Hypertelorism |
OMIM:602501 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411536 |
| Cerebellar-Facial-Dental Syndrome |
|
Cataract, Abnormal midbrain morphology, Hypoplasia of the pons, Sparse eyebrow, Cryptorchidism, H... |
ORPHA:444072 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Hypertelorism, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped pal... |
OMIM:229400 |
| Lennox-Gastaut Syndrome |
|
Falls, Abnormal brainstem morphology |
ORPHA:2382 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Optic atrophy, Thrombocytopenia |
OMIM:615597 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Telecanthus, Jaundice, Developmental cataract, Elevated circu... |
OMIM:231680 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
| Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Optic atrophy, Thrombocytopenia |
ORPHA:370924 |
| Obesity And Hypopigmentation |
|
Polyphagia, Hepatic steatosis, Obesity |
OMIM:620195 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Plasmacytosis, Increased circulating antibody level, Lymp... |
OMIM:247800 |
| Fanconi Anemia, Complementation Group S |
|
Epicanthus, Ataxia, Hypertelorism, Ovarian neoplasm, Upslanted palpebral fissure, Long eyelashes,... |
OMIM:617883 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmentation, Keratoc... |
ORPHA:1806 |
| Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocy... |
ORPHA:31150 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Confusion, Tremor, Jaundice, Schistocytosis, Elevated circ... |
OMIM:274150 |
| Miller Fisher Syndrome |
|
Anisocoria, Ptosis, Ataxia, Mydriasis |
ORPHA:98919 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Ptosis, Respiratory insufficiency due to muscle weakness, Optic atrophy, Pigmentary... |
ORPHA:436271 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Epicanthus, Blepha... |
ORPHA:83617 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to... |
OMIM:615438 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricemia |
OMIM:300323 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Eosinophili... |
ORPHA:400 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia |
ORPHA:411543 |
| Felty Syndrome |
|
Hepatomegaly, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Neutropenia, Osteol... |
ORPHA:47612 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
| Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
| Developmental And Epileptic Encephalopathy 1 |
|
Dyspnea, Dysphagia, Choreoathetosis, Dystonia, Microphthalmia |
OMIM:308350 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Revesz Syndrome |
|
Ataxia, Leukocoria, Fine, reticulate skin pigmentation, Exudative retinopathy, Megalocornea |
OMIM:268130 |
| Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Hypertelorism |
OMIM:607131 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Nonproductive cough, Leukopenia, Decreased circulati... |
ORPHA:289390 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
OMIM:176270 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Epicanthus, Reduced natural killer cell activity, S... |
OMIM:608233 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:617093 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Iron deficiency anemia, H... |
OMIM:226300 |
| Lig4 Syndrome |
|
Pancytopenia, Epicanthus, Small for gestational age, Asthma, Acute lymphoblastic leukemia, Upslan... |
OMIM:606593 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea, Hypothermia |
OMIM:616501 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Epicanthus, Apnea, Retinal dystrophy, Tachypnea, Subretinal deposi... |
ORPHA:397715 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM le... |
OMIM:242860 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Anorexia... |
ORPHA:824 |
| Joubert Syndrome 5 |
|
Ataxia, Retinal coloboma, Molar tooth sign on MRI, Rod-cone dystrophy, Thickened superior cerebel... |
OMIM:610188 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Asthma, ... |
ORPHA:449400 |
| Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness |
|
Nasolacrimal duct obstruction, Hypertelorism |
OMIM:614187 |
| Nail-Patella Syndrome |
|
Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Tip-toe gait, Les... |
ORPHA:2614 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Ptosis, Respiratory insufficiency due to muscle weakness, Opt... |
OMIM:220110 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memo... |
OMIM:618982 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic ste... |
OMIM:256810 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Respiratory insufficiency, Cholestasis, Pigmentary retinopathy, Res... |
ORPHA:746 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
| Dengue Fever |
|
Hepatomegaly, Epistaxis, Cardiorespiratory arrest, Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Epicanthus, Cryptorchidism, Microcornea, Microphthalmia, Irregular hyperpigmentation, Retinopathy |
ORPHA:2505 |
| Cystinuria |
|
Hyperuricemia |
ORPHA:214 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Upslanted palpebral fissure, Microphthalmia, Ocular albinism, Blepharophimosis |
ORPHA:1352 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Dyspnea, Thrombocytopenia, Bronchiectasis, Dysphagia, D... |
ORPHA:169105 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Asthma, Splenomegaly, Mi... |
OMIM:606003 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Aggressive behavior, Tremor, Optic atrophy, Athetosis, Dystonia, Rod-cone... |
OMIM:617710 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Bradykinesia, D... |
OMIM:610217 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:98754 |
| Aceruloplasminemia |
|
Torticollis, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminem... |
OMIM:604290 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Attention deficit hyperactivi... |
OMIM:620141 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Lambert Syndrome |
|
Inguinal hernia, Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circulating antib... |
ORPHA:1296 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
| Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Ti... |
OMIM:310200 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Frontonasal Dysplasia 3 |
|
Absent eyebrow, Sparse eyelashes, Hypertelorism, Upper eyelid coloboma, Microphthalmia |
OMIM:613456 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Tachypnea, Jaundice, Hyperammonemia, Hyperprolinemia, H... |
OMIM:615751 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Apnea, Small for gestational age, Leukocytosis, Peritonitis, Neutropenia, Thrombocy... |
ORPHA:391673 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Hypertelorism, Nasolacrimal duct obstruction, Eyelid coloboma, Microphthalmia, Cryp... |
OMIM:248450 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Increased circulating IgE level, Failure to thrive, Decreased pr... |
OMIM:615767 |
| Double Outlet Right Ventricle |
|
Narrow palpebral fissure, Failure to thrive, Tachypnea, Hypocalcemia |
ORPHA:3426 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cataract, Retinal dystrophy, Elevated circulating creatine kinase concentration, Buphthalmos, Res... |
OMIM:616538 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly |
ORPHA:2123 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:98793 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Decreased circulating complement factor B concentration, Hyperlipidemia, Schisto... |
OMIM:235400 |
| Cockayne Syndrome Type 1 |
|
Anophthalmia, Ataxia, Hypertension, Gait disturbance, Difficulty walking |
ORPHA:90321 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Holoprosencephaly |
|
Anophthalmia, Congenital diaphragmatic hernia, Abnormality of the spleen, Synophrys, Chorioretina... |
ORPHA:2162 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma... |
ORPHA:193 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit... |
OMIM:222470 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:177904 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:158048 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Abnormal eyelid morphology, Hypoplasia of the thymus, Hypocalcemia, Abn... |
ORPHA:567 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Small for gestat... |
OMIM:557000 |
| Immunodeficiency 92 |
|
Hepatomegaly, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory... |
OMIM:619652 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Optic disc hypoplasia, Hypertelorism, Upslanted palpebral fissure, Hypoplasia of the brainstem, M... |
OMIM:619306 |
| Acro-Renal-Ocular Syndrome |
|
Epicanthus, Cataract, Optic disc hypoplasia, Hypertelorism, Optic disc coloboma, Microcornea, Col... |
ORPHA:959 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:177901 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Inability to walk, Optic atrophy, Gait ataxia, Anisocoria, Abnormal optic nerve morphology, Diffi... |
ORPHA:99949 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Neutropenia, Hypoxemia, Cellulitis, Abnormal pl... |
ORPHA:238459 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Hermansky-Pudlak Syndrome 6 |
|
Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation of the skin |
OMIM:614075 |
| Gitelman Syndrome |
|
Prolonged QT interval, Salt craving, Ataxia, Ventricular tachycardia, Paresthesia, Palpitations, ... |
OMIM:263800 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Osteop... |
ORPHA:667 |
| Obesity Due To Sim1 Deficiency |
|
Increased resting energy expenditure, Obesity, Cognitive impairment, Attention deficit hyperactiv... |
ORPHA:369873 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... |
ORPHA:723 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Hypothermia |
ORPHA:95717 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic... |
OMIM:300952 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Elbow contracture, Asthma, Annular pancreas, Knee flexion contracture, Decreas... |
OMIM:618162 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Acute hepatic failure, Elevated hepatic transaminase, Entropion, Cough, Thr... |
ORPHA:537 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... |
OMIM:222700 |
| Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Supernumerary nipple, Hypertelorism, Sparse eyebrow, Synophrys, Upslanted palpebral f... |
OMIM:620098 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Apnea, Opisthotonus, Acute hepatic steatosis, Failure to thrive |
OMIM:210200 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Downslanted palpebral fissures, Deeply set eye, Peters anomaly |
OMIM:614526 |
| Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
| Meckel Syndrome, Type 10 |
|
Molar tooth sign on MRI, Narrow palpebral fissure, Epicanthus, Ptosis |
OMIM:614175 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
| Medullary cystic kidney disease 2 |
|
Hyperuricemia |
OMIM:603860 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
| Pseudo-Torch Syndrome 3 |
|
Apnea, Increased circulating ferritin concentration, Leukocytosis, Respiratory insufficiency, Con... |
OMIM:618886 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Increased circulating I... |
ORPHA:99827 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
| Xq28 (MECP2) duplication |
|
Depression, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms, Decreased circulating I... |
DECIPHER:45 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Hepatosplenomegal... |
OMIM:615122 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Synophrys, Progressive neurologic deterioration, Decreased circulating antibody level |
ORPHA:85317 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
| Frontorhiny |
|
Epicanthus, Cataract, Hypertelorism, Microphthalmia, Hypopituitarism, Iris coloboma, Ptosis |
ORPHA:391474 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology, Opacification of t... |
OMIM:215250 |
| Q Fever |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Cryoglobulinemia, Pneumonia, A... |
ORPHA:781 |
| Adams-Oliver Syndrome |
|
Cataract, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphthalmia... |
ORPHA:974 |
| Retinoblastoma |
|
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Pinealoma |
OMIM:180200 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Repetitive compulsive behavior, ... |
ORPHA:66634 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Epicanthus, Cataract, Hyperactivity, Aggressive behavior, Splenomegaly, Epiphyseal ... |
OMIM:270400 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... |
ORPHA:35069 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
| Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
| Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
| Nail-Patella Syndrome |
|
Keratoconus, Ptosis, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibro... |
ORPHA:171 |
| Superficial Siderosis |
|
Ataxia, Unsteady gait, Dysmetria, Limb ataxia, Anisocoria, Progressive gait ataxia, Dysdiadochoki... |
ORPHA:247245 |
| 2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Hypertelorism, Cryptorchidism, Synophrys, Optic disc coloboma, Coloboma, Proptosis, M... |
ORPHA:251014 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Small ... |
OMIM:260400 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Abnormal pons morphology, Bilateral microphthalmos, Atrophy/Degeneration affecting the brainstem |
ORPHA:77299 |
| Poikiloderma With Neutropenia |
|
Hypertelorism, Sparse eyebrow, Nasolacrimal duct obstruction, Reticular hyperpigmentation, Conjun... |
OMIM:604173 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... |
OMIM:175780 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
| Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Decreased liver fu... |
OMIM:251290 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Decreased response to growth hormone stimulation test, Polycoria, Hypoplasia of t... |
OMIM:180500 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Obsessive-compulsive trait, Dement... |
ORPHA:168491 |
| Joubert Syndrome |
|
Apnea, Episodic tachypnea, Highly arched eyebrow, Abnormal pattern of respiration, Tremor, Iris c... |
ORPHA:475 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Entropion, Abnormality of neutrophils, Dysp... |
ORPHA:36426 |
| Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... |
OMIM:606519 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increa... |
OMIM:616005 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Hypotelorism |
ORPHA:3469 |
| 3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:610198 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
| Digeorge Syndrome |
|
Impaired T cell function, Sclerocornea, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis... |
OMIM:188400 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Incontinentia Pigmenti |
|
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Abnormal dental enamel morpholog... |
ORPHA:464 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Developmental cataract, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Epicanthus, Hypertelorism, Microcornea, Upslanted palpebral fissure, Hypoplastic nipples, Blephar... |
OMIM:156610 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614921 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia |
OMIM:613239 |
| Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
| Mirage Syndrome |
|
Hyponatremia, Radial club hand, Thrombocytopenia, Hyperkalemia, Leukopenia, Aspiration pneumonia,... |
OMIM:617053 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia |
OMIM:615297 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Hyperammonemia, Opisthotonus, Dystonia, Mental deterioration, F... |
OMIM:616672 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Confusion, Megaloblastic anemia, Tremor, Hyperhomocyst... |
OMIM:277400 |
| Mgat2-Cdg |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Dec... |
ORPHA:79329 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Respiratory insufficiency, D... |
OMIM:618042 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... |
OMIM:610921 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Epicanthus, Small for gestational age, Megalo... |
OMIM:277380 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, ... |
ORPHA:2785 |
| Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
| Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Cataract, Supernumerary nipple, Keratitis, Retinal v... |
OMIM:308300 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... |
OMIM:617006 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis |
ORPHA:99879 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Abnormality of complement system, Unicame... |
ORPHA:79086 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
| Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Ataxia, Hypertelorism, Cryptorchidism, Bilateral microphthalmos, Upslanted palpebral ... |
ORPHA:369891 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Cholangitis, Pulmonary embolism, Cough, Neutrophilia, Confus... |
ORPHA:3260 |
| Castleman Disease |
|
Myelofibrosis, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive... |
ORPHA:160 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Dementia, Disinhibition, Gait di... |
ORPHA:43 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
| Insulin-Resistance Syndrome Type B |
|
Pneumonia, Abnormality of body weight, Increased circulating IgA level, Abnormal circulating fatt... |
ORPHA:2298 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism, Hypertelorism |
ORPHA:1135 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Lipoatrophy, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Decreased circulating antibody level,... |
ORPHA:90045 |
| Rubinstein-Taybi Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Nasolacrimal duct ... |
ORPHA:783 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:228308 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia |
ORPHA:721 |
| Intestinal Botulism |
|
Ptosis, Mydriasis |
ORPHA:178481 |
| Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Memory impairment, Irritability, Attention deficit hyperactivity dis... |
ORPHA:1929 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Multiple lipomas, Hepatic steatosis, Attention deficit hyperactivity disorder |
ORPHA:210548 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hypoplasia of the pons, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior ... |
OMIM:613154 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Anophthalmia, Corneal opacity, Chorioretinal dysplasia, Scle... |
ORPHA:2556 |
| Toxin-Mediated Infectious Botulism |
|
Ptosis, Mydriasis |
ORPHA:230800 |
| Hermansky-Pudlak Syndrome 7 |
|
Menorrhagia, Ocular albinism, Albinism |
OMIM:614076 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Abnormal temper t... |
ORPHA:163681 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Supernumerary nipple, Cryptorchidism, Anisocori... |
OMIM:618653 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial hyperostosis, Optic atrophy... |
OMIM:259710 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Confusion, Leukocytosis, Depression, Thrombocytopenia |
ORPHA:83601 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Cataract, Cholangitis, Microv... |
OMIM:124000 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Ataxia, Hypopigmented skin pa... |
ORPHA:163746 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... |
OMIM:208085 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Hypopl... |
OMIM:253280 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Osteolysis, Anemia |
ORPHA:158014 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Dystonia, Apnea, Hypothermia, Dyspnea, Rod-cone dystrophy, Low plasma citrulline, E... |
ORPHA:255210 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Cryptorchidism, Optic atrophy, Ptosis |
ORPHA:457193 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Epicanthus, Hypertelorism, Hypoplasia of the pons, Cryptorchidism, Blepharophimosis, Optic atroph... |
OMIM:616975 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Optic disc pallor, Hepatomegaly, Splenomegaly, O... |
OMIM:611490 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Decreased CD4:CD8 ... |
OMIM:618495 |
| Smith-Kingsmore Syndrome |
|
Large for gestational age, Umbilical hernia, Downslanted palpebral fissures, Thrombocytopenia, De... |
OMIM:616638 |
| Pelvis-Shoulder Dysplasia |
|
Waddling gait, Bilateral microphthalmos, Microcornea, Retinal coloboma, Iris coloboma, Short palp... |
ORPHA:2839 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Allergic rhinitis, Abscess, Eosinophilia, Asthma, Increased circul... |
OMIM:615816 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Epicanthus, Hyperactivity, D... |
OMIM:251260 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Progressive neurologic deterioration, Thrombocytopenia... |
OMIM:608013 |
| Caffey Disease |
|
Respiratory insufficiency, Periosteal thickening of long tubular bones, Cortical thickening of lo... |
ORPHA:1310 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Microphthalmia, Downslanted palpebral fissures, Iris coloboma |
ORPHA:251038 |
| Monosomy 13Q34 |
|
Epicanthus, Epistaxis, Hypercalcemia, Obesity, Downslanted palpebral fissures, Horizontal eyebrow... |
ORPHA:96168 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Epicanthus, Optic neuropathy, Hypertelorism, Phthisis bulbi, Optic atrophy, Proptosis, Optic nerv... |
OMIM:619727 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Increased circulating antibody level, Cirrhosis, Cough, Decreased DLCO, Pulmonary arteri... |
OMIM:178500 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Pulmonary embolism, Abnorm... |
ORPHA:447 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Optic at... |
OMIM:249270 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... |
ORPHA:57777 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Telecanthus, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Spar... |
OMIM:129900 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypercalcemia, Hypermagnesemia, Depression, Multiple lipomas, Hypophosphatemia, Pan... |
OMIM:600740 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hypoventilation, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Opt... |
OMIM:606056 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Sclerocornea, Cryptorchidism, Microphthalmia, Iris coloboma |
ORPHA:77298 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Ataxia, Diabetes mellitus, Dilated cardiomyopathy, Gait ataxia, Bradykinesia... |
ORPHA:254892 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Inability to walk, Chorea, Right bundle branch block, Reduced left ventricular ejec... |
ORPHA:268 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Reduced forced exp... |
OMIM:613385 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia |
ORPHA:90036 |
| Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Epicanthus, Short attention span, Large for gestational age, Splenomegaly, Obesity,... |
OMIM:605309 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Anemia, Co... |
OMIM:304790 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen... |
ORPHA:94059 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
| Duplication Of The Pituitary Gland |
|
Congenital stationary night blindness, Abnormal pituitary gland morphology, Abnormal midbrain mor... |
ORPHA:314621 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Blepharitis, Retinopathy, Thrombocytopenia |
ORPHA:158029 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal... |
ORPHA:79277 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Microcornea, Microphthalmia, Downslant... |
ORPHA:35173 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Downslanted palpebral fissures, Hypocalcemia, Cachexia |
ORPHA:1438 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Ataxia, Hypoglycemia, Hypoglycemic seizures, Dysphagia, Arrh... |
ORPHA:480864 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, ... |
OMIM:613001 |
| Trichothiodystrophy 1, Photosensitive |
|
Cataract, Small for gestational age, Asthma, Flexion contracture, Absence of subcutaneous fat, Mi... |
OMIM:601675 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperactivity, Tachycardia |
OMIM:609152 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride... |
OMIM:269700 |
| Duane-Radial Ray Syndrome |
|
Epicanthus, Cataract, Optic disc hypoplasia, Hypertelorism, Retinal coloboma, Microphthalmia, Iri... |
OMIM:607323 |
| Hereditary Coproporphyria |
|
Tachycardia |
ORPHA:79273 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Exudative retinopathy, Bone marrow hypoc... |
OMIM:613990 |
| Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300554 |
| Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Cataract, Telecanthus, Palpebral edema, Lower eyelid coloboma, Hypotelorism, Anisocor... |
OMIM:181270 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Hyperactivity, Polyphagia, Irritability |
OMIM:275000 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, In... |
OMIM:602450 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... |
OMIM:613496 |
| Bernard-Soulier Syndrome |
|
Epistaxis, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced ... |
OMIM:231200 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Cataract, Hypertelorism, Microcornea, Microphthalmia, Downslanted palpebral fissures,... |
OMIM:616449 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... |
ORPHA:449427 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Very long chain fatty acid accumulation,... |
OMIM:261515 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Increased intraabdominal fat, Hepatic steatosis |
ORPHA:79085 |
| Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
| Leptospirosis |
|
Respiratory distress, Papilledema, Hepatomegaly, Anorexia, Jaundice, Retinal hemorrhage, Hepatiti... |
ORPHA:509 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Sparse eyelashes,... |
OMIM:604292 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Progressive neurologic deterioration, Thrombocytopenia, Splenomegaly, Dyspha... |
OMIM:230900 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia |
OMIM:598500 |
| 1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Abnormality iris morphology, Hypotelorism, Upslan... |
ORPHA:250999 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Torticollis, Apnea, Intermittent hypothermia, Oculogyric crisis, To... |
OMIM:608643 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemoph... |
OMIM:301078 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Lassa Fever |
|
Cough, Dyspnea, Jaundice, Increased circulating IgM level, Conjunctivitis, Dysphagia |
ORPHA:99824 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Enamel hypomineralization, Rickets, Hyp... |
OMIM:307800 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Astigmatism, Bone marrow hypocellularity, Neutropenia, Microphthalmia, De... |
OMIM:609053 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride... |
OMIM:608594 |
| Myh9-Related Disease |
|
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Increased mean platelet volume, ... |
ORPHA:182050 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Dyspnea, Thrombocytopenia,... |
OMIM:230800 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Congestive heart failure, Tachycardia |
ORPHA:90033 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Hypogonadotropic hypogonadism, Hypertelorism, Cryptorchidism, Synophrys, Lacrimal duct ... |
OMIM:603457 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... |
OMIM:265120 |
| Seckel Syndrome 10 |
|
Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated c... |
OMIM:617253 |
| Meckel Syndrome, Type 4 |
|
Molar tooth sign on MRI, Microphthalmia, Bile duct proliferation |
OMIM:611134 |
| Trisomy 18 |
|
Abnormality of retinal pigmentation, Epicanthus, Cataract, Hypertelorism, Cryptorchidism, Microco... |
ORPHA:3380 |
| Gracile Bone Dysplasia |
|
Asplenia, Decreased skull ossification, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic splee... |
OMIM:602361 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Hypoplasia of eyelid, Leukocytosis, Flexion contractur... |
OMIM:619321 |
| Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Telecanthus, Hypertelorism, Cryptorchidism, Upslanted palpebral fissure, Hypogonadism, Microphtha... |
ORPHA:228390 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Biliary tract abnor... |
OMIM:137920 |
| Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Bilateral ptosis, Ataxia, Abnormal brainstem morphology |
ORPHA:467166 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Coloboma, Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-choleste... |
OMIM:302960 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lymphocyte ph... |
ORPHA:99867 |
| Alternating Hemiplegia Of Childhood |
|
Ataxia, Cardiac conduction abnormality, Progressive neurologic deterioration, Anorexia, Oral-phar... |
ORPHA:2131 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... |
OMIM:619767 |
| Rodrigues Blindness |
|
Microcornea, Microphthalmia, Sclerocornea |
OMIM:268320 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Thrombocytopenia, Self-injurious behavior, High nonceruloplasmin-bound ser... |
ORPHA:457351 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
| Marden-Walker Syndrome |
|
Epicanthus, Hypertelorism, Cryptorchidism, Hypoplasia of the brainstem, Blepharophimosis, Microph... |
OMIM:248700 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Wound Botulism |
|
Ptosis, Mydriasis |
ORPHA:178475 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Hyperuricemia |
OMIM:614227 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Osteolysi... |
ORPHA:249 |
| 47,Xyy Syndrome |
|
Male infertility, Macroorchidism, Hypertelorism, Cryptorchidism, Increased circulating gonadotrop... |
ORPHA:8 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Allergic rhinitis, Asthma, Chronic pulmonary obstruction, ... |
OMIM:618131 |
| Porphyria Variegata |
|
Hypertension, Tachycardia, Somatic sensory dysfunction |
ORPHA:79473 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Unsteady gait, Retinal hemorrhag... |
ORPHA:90324 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Epicanthus, Decreased circulating antibody level |
OMIM:616910 |
| Cerebellofaciodental Syndrome |
|
Cataract, Hypoplasia of the pons, Cryptorchidism, Sparse eyebrow, Hypoplasia of the midbrain |
OMIM:616202 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Iatrogenic Botulism |
|
Ptosis, Mydriasis |
ORPHA:254509 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Normochromic anemia, Hypoalbuminemia, Dysphagia, Mental deteriora... |
OMIM:254900 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Netherton Syndrome |
|
Decreased circulating IgG level, Allergic rhinitis, Sparse eyebrow, Asthma, Increased circulating... |
OMIM:256500 |
| Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI |
OMIM:614120 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ... |
OMIM:150550 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Lipodystrophy, Sclerosis of foot bone, Thrombocytosis, Respi... |
ORPHA:2905 |
| Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Craniosynostosis, Highly arched eyebrow, Sparse eyebrow, Elbow f... |
ORPHA:3132 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:615595 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Abnormal immunoglo... |
ORPHA:90159 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Neonatal respiratory distress, Highly arched ey... |
OMIM:619005 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypertension, Orthostatic hypotension, Tachycardia, Emotional lability |
OMIM:223900 |
| Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Dyspnea, Nonpro... |
ORPHA:85443 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Split hand/foot malformation 1 (SHFM1) |
|
Lacrimal duct aplasia |
DECIPHER:46 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
| 3Q29 Microdeletion Syndrome |
|
Cataract, Aggressive behavior, Depression, Attention deficit hyperactivity disorder, Microphthalm... |
ORPHA:65286 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Retinitis, Anorexia, Jaundice, Retinal hemorrhage, Hepatitis, Macu... |
ORPHA:319251 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Telecanthus, Optic nerve hypoplasia, Bilateral microphthalmos, Eyelid coloboma, Hyperpigmented nevi |
OMIM:607597 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Increased circul... |
ORPHA:465508 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multiple cafe-au-lait spots, Retinal detachment, Leukocoria |
ORPHA:1556 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
| Steinfeld Syndrome |
|
Microphthalmia, Retinal coloboma, Iris coloboma, Absent gallbladder |
OMIM:184705 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Fontaine Progeroid Syndrome |
|
Absent nipple, Hypertelorism, Cryptorchidism, Synophrys, Proptosis, Downslanted palpebral fissure... |
OMIM:612289 |
| Opsismodysplasia |
|
Shallow orbits, Long palpebral fissure, Respiratory insufficiency, Hypophosphatemia |
OMIM:258480 |
| Ogden Syndrome |
|
Apnea, Abnormal eyelid morphology, Microvesicular hepatic steatosis, Iron deficiency anemia, Macr... |
OMIM:300855 |
| Pediatric Systemic Lupus Erythematosus |
|
Dyspnea, Leukopenia, Decreased circulating complement C3 concentration, Microangiopathic hemolyti... |
ORPHA:93552 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Lacrimal duct stenosis, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures, Ptosis |
ORPHA:73246 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased serum iron, Corneal erosion, Flexion contracture, Dysphagia, Depress... |
ORPHA:89842 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Synophrys, Deeply set eye |
ORPHA:261272 |
| Adrenomyodystrophy |
|
Megalocornea, Failure to thrive, Hepatic steatosis, Reduced bone mineral density |
ORPHA:977 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
| Hallermann-Streiff Syndrome |
|
Hyperactivity, Cataract, Small for gestational age, Sparse eyelashes, Sparse eyebrow, Microphthal... |
OMIM:234100 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re... |
OMIM:601495 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic nipples, Hypogonadism, Nasolacrimal duct obstruction |
OMIM:273400 |
| Orofaciodigital Syndrome Type 6 |
|
Epicanthus, Ataxia, Highly arched eyebrow, Hypertelorism, Bilateral cryptorchidism, Gait disturba... |
ORPHA:2754 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Optic atrophy, Abnormal brainstem morphology |
ORPHA:79279 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Ataxia, Ptosis |
OMIM:615510 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Dystonia, Small for gestational age, Highly arched eyebrow, Tremor, Microvesicul... |
OMIM:220111 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... |
ORPHA:1572 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Hypertension, Arrhythmia |
ORPHA:139411 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Epicanthus, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arched eyebrow, Hypertelorism,... |
OMIM:617506 |
| Letterer-Siwe Disease |
|
Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Lacrimal duct atresia, Conjunctivitis, Lacrimal duct aplasia |
OMIM:620192 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Retinal hemorrhage, O... |
ORPHA:464321 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Supernumerary nipple, Cryptorchidism, Optic dis... |
OMIM:618454 |
| Neu-Laxova Syndrome |
|
Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Hypertelorism, Abn... |
ORPHA:2671 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thromboc... |
ORPHA:293978 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
| Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Inguinal hernia, Epicanthus, Thick eyebrow, Splenomegaly, Vacuolated lymphocytes, D... |
OMIM:248500 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Dyspnea, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Interstit... |
OMIM:127550 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Deafness, X-Linked 7 |
|
Telecanthus, Unilateral microphthalmos, Thick eyebrow, Ptosis |
OMIM:301018 |
| Lathosterolosis |
|
Hepatomegaly, Epicanthus, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal plate... |
ORPHA:46059 |
| Monosomy 13Q14 |
|
Epicanthus, Cataract, Hypertelorism, Microphthalmia, Iris coloboma, Retinoblastoma, Ptosis |
ORPHA:1587 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Cataract, Sparse eyelashes, Hypertelorism, Absent eyelashes, Cryptorc... |
OMIM:268400 |
| Cowden Syndrome 1 |
|
Cataract, Angioid streaks of the fundus, Decreased circulating antibody level, Lymphopenia, Subcu... |
OMIM:158350 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Inguinal hernia, Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Eryt... |
OMIM:612541 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:235200 |
| Inhalational Botulism |
|
Ptosis, Mydriasis |
ORPHA:254504 |
| Cimdag Syndrome |
|
Hepatomegaly, Retinal dystrophy, Lipodystrophy, Microvesicular hepatic steatosis, Developmental c... |
OMIM:619273 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Highly arched eyebrow, Upslanted palpebral fissure, Increased mean corpus... |
ORPHA:261250 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Epicanthus, Inability to walk, Cryptorchidism, Deeply set eye, Microphthalmia |
OMIM:618494 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Apnea, Hypothermia, Optic atrophy, Joint contracture |
OMIM:614498 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Impulsivity, Aggressive behavior, Lens coloboma, Self-injurious behavior, Joint ... |
OMIM:618914 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia |
OMIM:616913 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Aqueductal stenosis, Cryptorchidism, Microcornea, Abnormal optic nerve morphology, ... |
ORPHA:3412 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia |
OMIM:613554 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Corneal opacity, Hypothermia, Asthma, Synophrys, Osteoporosis, Respiratory insufficie... |
ORPHA:488632 |
| Dubowitz Syndrome |
|
Epicanthus, Cataract, Telecanthus, Abnormality of neutrophils, Craniosynostosis, Thrombocytopenia... |
ORPHA:235 |
| Mycophenolate Mofetil Embryopathy |
|
Hypertelorism, Eyelid coloboma, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
ORPHA:268249 |
| Dent Disease 1 |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300009 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Dysphagia, Weight loss, Hypophosphatemia,... |
ORPHA:143 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:613388 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Retinal detachment, Inguinal hernia, Keratoconus, Epicanthus, Recurrent pneumonia, Os... |
OMIM:225400 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Supernumerary nipple, Hypertelorism, Sparse eyebrow, Cryptorchidism, Hypotelorism, Upslanted palp... |
OMIM:612530 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Synophrys, Flexion contracture, Knee flexion contracture, Hypocalcemia, Low frustration to... |
OMIM:619503 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone marrow hypocellul... |
OMIM:613989 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Asplenia, Thr... |
OMIM:185070 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
ORPHA:95613 |
| Mowat-Wilson Syndrome |
|
Cataract, Supernumerary nipple, Hypertelorism, Cryptorchidism, Microcornea, Deeply set eye, Ectop... |
OMIM:235730 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Recurrent pneumonia, Sterile abscess, Bronchiectasis, Decreased circulating IgA lev... |
OMIM:618282 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Ataxia, Cryptorchidism, Hypopigmented skin patches, White foreloc... |
OMIM:609136 |
| Acute Liver Failure |
|
Elevated hepatic transaminase, Confusion, Jaundice, Abnormal respiratory system physiology, Hyper... |
ORPHA:90062 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cataract, Optic nerve hypoplasia, Sclerocornea, Anterior pitui... |
OMIM:206900 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu... |
OMIM:618223 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia |
OMIM:156400 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Ataxia, Narcolepsy, Depression, Mental deterioration, Memory impairment |
ORPHA:314404 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Hypothermia, Delayed proximal femoral epiphyseal ossification, Depression, Umb... |
ORPHA:90674 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Subcapsular cataract, Hepatic steatosis, Ectropion |
OMIM:275630 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcytic anemia, Kerati... |
ORPHA:906 |
| Graft Versus Host Disease |
|
Irritability, Tachycardia |
ORPHA:39812 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Elevated circulating creatine kinase conce... |
OMIM:615356 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Scarring, Craniosynostosis, Decreased circulating antibody level, Atrophic scars... |
ORPHA:79396 |
| Aspergillosis |
|
Keratitis, Dacryocystitis, Vitritis |
ORPHA:1163 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Arthrog... |
ORPHA:85212 |
| Meckel Syndrome |
|
Anophthalmia, Abnormal chorioretinal morphology, Cataract, Sclerocornea, Hypertelorism, Pancreati... |
ORPHA:564 |
| Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Abscess, Eosinophilia, Abnormal retinal morphology, Abnormality ... |
ORPHA:228123 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
| Infant Botulism |
|
Ptosis, Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Hype... |
ORPHA:79474 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyela... |
OMIM:263700 |
| Immunodeficiency 12 |
|
Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3, Osteoporos... |
OMIM:615468 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Hypertelorism, Sparse eyebrow, Inability to walk, Developmental cataract, Microcornea... |
ORPHA:464738 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Hypertelorism, Synophrys, Nasolacrimal duct obstruction, Deeply set eye, Proptosis, Gait ... |
OMIM:300966 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Dacryocystitis |
ORPHA:1562 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Hypothermia, Large for gestational age, Delayed epiphyseal ossification, Pr... |
ORPHA:226313 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon,... |
OMIM:106260 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Pigmentary retinopathy, Chordee, Peters anomaly, Microphthalmia, Iris col... |
OMIM:309801 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis |
ORPHA:228396 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hyp... |
ORPHA:88 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Failure to thrive in infancy, Almond-shaped palpebral fissure, Tongue thrusting, B... |
ORPHA:261323 |
| Cat Eye Syndrome |
|
Epicanthus, Hypertelorism, Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures... |
OMIM:115470 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Ataxia, Dysmetria, Telangiectasia |
ORPHA:93400 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse eyelashes, Nasolacrimal duct obstruction, Reticular hyperpigmentation, Pterygium, Hyperpig... |
OMIM:224230 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Downslanted palpebral fissures, Thrombocytopenia |
OMIM:619981 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Obesity, Weight loss, Res... |
ORPHA:79102 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachycardia, Insulin resistanc... |
ORPHA:273 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Palpebral edema, Elevated circulating C-reactive pro... |
ORPHA:50918 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:243150 |
| Nance-Horan Syndrome |
|
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract |
OMIM:302350 |
| Noonan Syndrome 14 |
|
Epicanthus, Lacrimal duct stenosis, Hypertelorism, Sparse eyebrow, Cryptorchidism, Downslanted pa... |
OMIM:619745 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Decreased circulating IgG2 level, Optic atrophy, D... |
ORPHA:1493 |
| Foodborne Botulism |
|
Ptosis, Mydriasis |
ORPHA:228371 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm... |
OMIM:608800 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin... |
OMIM:259770 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia, Dysphagia |
OMIM:615750 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary embolism, Retinal arterial occlusion, Coombs-positive hemolytic anemia, Dementia, Micro... |
ORPHA:464343 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, He... |
ORPHA:186 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
| Cyclic Neutropenia |
|
Sinusitis, Cyclic neutropenia, Perianal abscess, Peritonitis, Cellulitis, Decreased eosinophil co... |
ORPHA:2686 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia, Dyspnea, Bilateral ptosis, Elevated circulating creatinine concentration, Rhinitis, ... |
ORPHA:230 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hyperactivity, Large for gestational age, Asthma, Downslanted palpebral fissures, Decreased circu... |
ORPHA:457485 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
| Hermansky-Pudlak Syndrome 10 |
|
Hypotelorism, Ocular albinism, Albinism |
OMIM:617050 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Sparse eyelashes, Thrombocytopenia, Osteoporosis,... |
OMIM:305000 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Bilateral ptosis, Upslanted palpebral fissure, Compulsive behaviors, Atten... |
ORPHA:404440 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dila... |
ORPHA:98855 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Mitral regurgitation, Tricuspid regurgitation, Aniridia |
ORPHA:1101 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Respiratory distress, Elevated hepatic transaminase, Conjugated hyperbilirubine... |
OMIM:617156 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased mean platel... |
OMIM:617718 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Broad eyebrow, Neutrophilia, Small for gestational age, Scarring, Palpebral edema, ... |
ORPHA:99843 |
| Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Delayed proximal femoral epiphyseal ossification, Prolonged neonatal jaundice, Umbil... |
ORPHA:95716 |
| Proteus Syndrome |
|
Central heterochromia, Abnormality of skin pigmentation, Chorioretinal coloboma, Hypertelorism, E... |
ORPHA:744 |
| Thrombocytopenia 5 |
|
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal brainstem morphology |
ORPHA:255182 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Inguinal hernia, Epicanthus, Highly arched eyebrow, Synophrys, R... |
OMIM:617062 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... |
OMIM:209920 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr... |
ORPHA:91500 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Telecanthus, Supernumerary nipple, Hypertelorism, Microphthalmia, Iris coloboma |
ORPHA:1236 |
| Degcags Syndrome |
|
Osteopenia, Oral-pharyngeal dysphagia, Synophrys, Leukopenia, Iron deficiency anemia, Hepatomegal... |
OMIM:619488 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Hypertelorism, Synophrys, Thin eyebrow, Microphthalmia, Cafe-au-lai... |
ORPHA:364577 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis |
OMIM:601186 |
| Gapo Syndrome |
|
Keratoconus, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Optic atrophy, Umbilical hernia, ... |
ORPHA:2067 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenom... |
ORPHA:84064 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur... |
ORPHA:139396 |
| Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Pneumonia, Congenital diaphragmatic hernia, Hiatus hernia, Curly eyelashes, High... |
OMIM:122470 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Hepatic failure, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
| Arboleda-Tham Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Bilateral cryptorchidism, Optic atroph... |
OMIM:616268 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Sparse eyelashes, Sparse eyebrow, Unilateral microphthalmos, Macroorchidism, Cafe-au-lait spot, I... |
OMIM:618874 |
| Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Dyspnea, Abnormal m... |
ORPHA:284 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... |
OMIM:612926 |
| Dent Disease |
|
Cataract, Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentratio... |
ORPHA:1652 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Umbilical ... |
OMIM:614520 |
| 1Q21.1 Microdeletion Syndrome |
|
Epicanthus, Cataract, Cryptorchidism, Deeply set eye, Microphthalmia, Iris coloboma |
ORPHA:250989 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Retinal coloboma |
OMIM:616546 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Tremor, Abnormal emotion, Attention deficit hyperactivity disorder, Microphthalmia |
ORPHA:1942 |
| Martsolf Syndrome 1 |
|
Epicanthus, Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Micr... |
OMIM:212720 |
| Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dila... |
ORPHA:98853 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
OMIM:600802 |
| Acute Radiation Syndrome |
|
Cataract, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Hypoplasia of the iris, Hypocalcificatio... |
ORPHA:169090 |
| Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... |
OMIM:309000 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Hypertelorism, Bilateral cryptorchidism, Cicatricial lagophthalmos, A... |
OMIM:263650 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hypoventilation, Elevated hepatic transaminase, Central hypoventilation, Hypothermi... |
ORPHA:293987 |
| Branchiooculofacial Syndrome |
|
Telecanthus, Anophthalmia, Cataract, Supernumerary nipple, Hypertelorism, Cryptorchidism, Nasolac... |
OMIM:113620 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Anterior polar cataract, Lenticonus, Hypophosphatemia |
OMIM:104200 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... |
OMIM:612925 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Camptodactyly of finger, Abnormal retinal morphology, Bilateral mic... |
OMIM:610758 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Hypoventilation, Optic disc pallor, Exaggerated startle response, Apnea, Dystonia, De... |
ORPHA:438213 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Cryptorchidism, Synophrys, Naso... |
OMIM:610759 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Keratoconus, Inguinal hernia, Femoral hernia, Craniosynostosis, Hiatus hern... |
ORPHA:3342 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Hypothermia, Recurrent pneumonia, Elbow flexion contracture, Ob... |
OMIM:618493 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Dystonia, Tremor, Increased total... |
OMIM:613280 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Synophrys... |
OMIM:616737 |
| Chromosome 13Q14 Deletion Syndrome |
|
Epicanthus, Supernumerary nipple, Cryptorchidism, Hypotelorism, Chorioretinal coloboma, Microphth... |
OMIM:613884 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hypertelorism, Sparse eyebrow, Cryptorchidism, Molar tooth sign on MRI, Microphthalmia |
OMIM:616300 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Decreased circulating antibody level, Coloboma, Hypoalbuminem... |
OMIM:618183 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Small for gestational age, Tremor, Splenomegal... |
OMIM:133540 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Hypertelorism, Hypermyelinated retinal nerve fibers, Hypotelorism, Corneal strom... |
OMIM:601812 |
| Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey... |
ORPHA:2396 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ... |
ORPHA:508542 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Osteoporosis, Dysphagia, Hypophosphatemia, Lipoma, Poly... |
ORPHA:99880 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Retinal telangiectasia, Tremor, Osteoporosis, Optic atrophy, Anemia, Exudative retino... |
OMIM:612199 |
| Raine Syndrome |
|
Increased bone mineral density, Highly arched eyebrow, Subperiosteal bone formation, Hypophosphat... |
OMIM:259775 |
| Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Niemann-Pick Disease Type C |
|
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Narcolepsy, Chorea, Dysphagia,... |
ORPHA:646 |
| Trisomy 8P |
|
Hypertelorism, Cryptorchidism, Upslanted palpebral fissure, Astigmatism, Aplasia/Hypoplasia of th... |
ORPHA:264450 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Tremor, Synophrys, Hepatic steatosis, Loss of facial adipose t... |
ORPHA:3455 |
| Joubert Syndrome 21 |
|
Anophthalmia, Ataxia, Dysphagia |
OMIM:615636 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Tremor, Splenomegaly, Abnormal lymphocyte morphology... |
ORPHA:3162 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
| Stevenson-Carey Syndrome |
|
Central hypoventilation, Coloboma, Camptodactyly, Microphthalmia, Joint contracture of the hand, ... |
OMIM:611961 |
| Icf Syndrome |
|
Epicanthus, Abnormality of neutrophils, Decreased circulating antibody level, Umbilical hernia, L... |
ORPHA:2268 |
| Momo Syndrome |
|
Epicanthus, Hypertelorism, Bilateral microphthalmos, Eyelid coloboma, Chorioretinal coloboma, Dow... |
ORPHA:2563 |
| Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Respiratory ins... |
OMIM:617397 |
| Fibular Hemimelia |
|
Anophthalmia, Difficulty walking |
ORPHA:93323 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atri... |
ORPHA:98863 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Acute hepatic failure, Inguinal hernia, Corneal opacity, Abnormal dental enamel morp... |
ORPHA:2092 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal ulce... |
OMIM:153400 |
| Hennekam Syndrome |
|
Epicanthus, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Respiratory insufficiency, D... |
ORPHA:2136 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow... |
OMIM:227646 |
| Alexander Disease |
|
Osteopenia, Hypothermia, Tremor, Respiratory insufficiency, Depression, Self-injurious behavior, ... |
ORPHA:58 |
| Adult Syndrome |
|
Absent nipple, Nasolacrimal duct obstruction, Conjunctivitis, Hypoplastic nipples, Freckling, Fai... |
OMIM:103285 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Lacrimal duct stenosis |
OMIM:609057 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb dystonia, Aggressive behavior, Tremor, Athetosis, Dysphagia, Rod-cone dystrophy, Thrombocyto... |
ORPHA:572798 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Epicanthus, Small for gestational age, Thrombocytopenia, Flexion contracture, Retic... |
OMIM:227645 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Failure to thrive in infancy, Thrombocytopenia, Giant platelets, Upslanted palpebral ... |
OMIM:611209 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... |
ORPHA:980 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Broad-based gait, Dacryocystitis, Cryptorchidism, Deeply set eye, Coloboma, Downslanted palpebral... |
ORPHA:251028 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Corneal opacity, Cryptorchidism, Abnormal brainstem morpho... |
ORPHA:464311 |
| Meckel Syndrome, Type 1 |
|
Hypertelorism, Cryptorchidism, Hypotelorism, Bile duct proliferation, Molar tooth sign on MRI, Mi... |
OMIM:249000 |
| Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level |
ORPHA:441 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Microphthalmia, Failure to thrive, Th... |
OMIM:603467 |
| Fanconi Anemia, Complementation Group J |
|
Multiple cafe-au-lait spots, Microphthalmia |
OMIM:609054 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Retinal infarction, Tachypnea, Mydriasis |
OMIM:613834 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Premature ventricular contraction |
ORPHA:1964 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal eyebrow morphology, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology,... |
ORPHA:3220 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal eyebrow morphology, Cataract, Abnormality of neu... |
ORPHA:1775 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Papilledema, Corneal opacity, Cachexia, Abnormali... |
ORPHA:2072 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Braddock-Carey Syndrome 1 |
|
Telecanthus, Camptodactyly, Enamel hypoplasia, Downslanted palpebral fissures, Thrombocytopenia |
OMIM:619980 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Linear Nevus Sebaceus Syndrome |
|
Telecanthus, Melanocytic nevus, Adenoma sebaceum, Microphthalmia, Irregular hyperpigmentation, Ir... |
ORPHA:2612 |
| Costello Syndrome |
|
Keratoconus, Epicanthus, Failure to thrive in infancy, Abnormal dental enamel morphology |
ORPHA:3071 |
| Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Splenomegaly, Prolonged neonatal jaundice,... |
OMIM:225750 |
| Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoporosis, Hypothermia |
OMIM:309400 |
| 1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Camptodactyly of finger, Abnormality of the sp... |
ORPHA:1606 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Epicanthus, Absent nipple, Aplasia of the thymus, Hypertelorism, Sparse eyebr... |
OMIM:620186 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Respiratory failure, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Cataract, Cryptorchidism, Hypogonadism, Microphthalmia, Iris coloboma |
ORPHA:2250 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Microcornea, Deeply set eye, Iris coloboma, Iris atrophy, Highly arche... |
ORPHA:261552 |
| Mend Syndrome |
|
Telecanthus, Cataract, Hyperactivity, Aggressive behavior, Elevated 8-dehydrocholesterol, Elevate... |
ORPHA:401973 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis |
OMIM:615560 |
| Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Increased blood urea nitrogen, Weight loss, Restrictive vent... |
OMIM:233450 |
| Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Hypertelorism, Bilateral cryptorchidism, Sparse eyebrow, Upslanted... |
OMIM:613451 |
| Immunodeficiency 56 |
|
Cholangitis, Hepatic failure, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic h... |
OMIM:615207 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Monoclonal elevation of circulating IgA, Progressive neurologic deterioration, M... |
ORPHA:91139 |
| Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Somatic sensory dysfunction, Akinesia, Aggressive behavior, Myocardit... |
ORPHA:3385 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration,... |
ORPHA:544482 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
| Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Ptosis, Ataxia, Mydriasis |
ORPHA:79138 |
| Netherton Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Asthma, Increased circulating IgE level, Decreased circulating ... |
ORPHA:634 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Paresthesia, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Eyelid coloboma, Microphth... |
ORPHA:306542 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Ptosis |
OMIM:188025 |
| Joubert Syndrome 39 |
|
Molar tooth sign on MRI, Retinal dystrophy |
OMIM:619562 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
| Gapo Syndrome |
|
Keratoconus, Hepatomegaly, Epicanthus, Sparse eyelashes, Retinal arteriolar tortuosity, Sparse ey... |
OMIM:230740 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thrombocytopenia, Bilateral ptosis, Respiratory insufficiency, Upslanted palp... |
ORPHA:163979 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Anemia, Dem... |
ORPHA:77261 |
| Holoprosencephaly 7 |
|
Hypertelorism, Synophrys, Bilateral microphthalmos, Hypotelorism, Upslanted palpebral fissure, Hy... |
OMIM:610828 |
| Aicardi Syndrome |
|
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
| Jacobsen Syndrome |
|
Inguinal hernia, Cataract, Epicanthus, Ectropion, Microcornea, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:2308 |
| 3P25.3 Microdeletion Syndrome |
|
Epicanthus, Knee flexion contracture, Downslanted palpebral fissures, Attention deficit hyperacti... |
ORPHA:435638 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... |
OMIM:601399 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Small for gestational age, Tach... |
ORPHA:555874 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Impaired glucose tolerance, Left bundle branch block, Glucose intolerance, Arrhythmia, Ventricula... |
OMIM:610131 |
| Monosomy 9Q22.3 |
|
Epicanthus, Cataract, Hyperactivity, Large for gestational age, Downslanted palpebral fissures, M... |
ORPHA:77301 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Rickets, Tooth abscess, Reduced bo... |
ORPHA:89936 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... |
ORPHA:300298 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
| Cousin Syndrome |
|
Hypertelorism, Microcornea, Deeply set eye, Narrow palpebral fissure, Blepharophimosis, Microphth... |
OMIM:260660 |
| Plague |
|
Tachycardia, Anorexia, Hematemesis, Unsteady gait, Depression, Hypotension, Arrhythmia, Delirium |
ORPHA:707 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Failure to thrive,... |
ORPHA:275 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Elbow ... |
OMIM:612394 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alph... |
OMIM:139090 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... |
ORPHA:637 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Bronchiec... |
ORPHA:391487 |
| Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Epicanthus, Cataract, Abnormal eyelid morphology, Alm... |
ORPHA:84 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Phonic tics, Depression, Choreoathetosis, Bradykinesia, Dementia... |
OMIM:234200 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Anemia, Emphysema, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Treacher-Collins Syndrome |
|
Cataract, Abnormal dental enamel morphology, Absent eyelashes, Respiratory insufficiency, Blephar... |
ORPHA:861 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
| Monosomy 18P |
|
Microphthalmia, Epicanthus, Ptosis |
ORPHA:1598 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, Absence of alp... |
OMIM:187900 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Decreased circulating antibody level, Delayed ossification of carpal bones, Lymphop... |
OMIM:617425 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis |
OMIM:617877 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly... |
ORPHA:98908 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
| Mirizzi Syndrome |
|
Tachycardia, Anorexia |
ORPHA:521219 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ptosis, Epicanthus, Small for gestational age, Pure red cell aplasia, Ery... |
ORPHA:124 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Cataract, Highly arched eyebrow, Hypertelorism, Bilateral cryptorchidi... |
OMIM:180849 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Deeah Syndrome |
|
Hepatomegaly, Decreased hemoglobin concentration, Neonatal respiratory distress, Epicanthus, Dysp... |
OMIM:619004 |
| Alström Syndrome |
|
Respiratory distress, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Dru... |
ORPHA:64 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Hypertelorism, Cryptorchidism, Synophrys, Microcornea, Upslanted palpebral fissure, B... |
OMIM:616734 |
| Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Hyperlipidemia, Delayed epiphyseal ossification, Osteoporosis, Obe... |
ORPHA:91 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Williams Syndrome |
|
Epicanthus, Flat cornea, Corneal opacity, Cataract, Ataxia, Hypogonadotropic hypogonadism, Retina... |
ORPHA:904 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Hypertelorism, Cryptorchidism, Hypotelorism, Upslanted palpebral fissure, Microp... |
ORPHA:99776 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density, Respiratory insufficiency |
ORPHA:1237 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormal eyelid morphology, Recurrent pn... |
ORPHA:647 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
| Beck-Fahrner Syndrome |
|
Lacrimal duct stenosis, Ptosis |
OMIM:618798 |
| Tatton-Brown-Rahman Syndrome |
|
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... |
ORPHA:404443 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Dystonia, Elevated circulating creatine kinase concentration, Elevat... |
OMIM:606002 |
| Charge Syndrome |
|
Epicanthus, Anophthalmia, Hypogonadotropic hypogonadism, Highly arched eyebrow, Hypertelorism, Aq... |
ORPHA:138 |
| Kaposiform Lymphangiomatosis |
|
Epistaxis, Pancreatic cysts, Dyspnea, Thrombocytopenia, Splenomegaly, Osteolysis, Hepatosplenomeg... |
ORPHA:464329 |
| Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Elevated cir... |
ORPHA:99829 |
| Aicardi Syndrome |
|
Retinal detachment, Cataract, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Micropht... |
OMIM:304050 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Syncope, Tachycardia |
ORPHA:71273 |
| Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus |
OMIM:614250 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
| Joubert Syndrome 38 |
|
Epicanthus, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, S... |
OMIM:619476 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Ohdo Syndrome, X-Linked |
|
Epicanthus, Hypertelorism, Sparse eyebrow, Cryptorchidism, Blepharophimosis, Microphthalmia, Cafe... |
OMIM:300895 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Optic nerve hypoplasia, Almond-shaped palpebral fissure, Coloboma, Abnormal op... |
ORPHA:508498 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Fasciitis, Hyperactivity, Short attention span, Abscess, Impulsivity, Hypothermia, S... |
ORPHA:642 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Flexi... |
OMIM:300868 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Cryptorchidism, Phthis... |
OMIM:300166 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Pneumonia, Elevated circulating C-re... |
ORPHA:48435 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Ataxia, Uveitis, Microcornea, Blepharophimosis, Microphthalmia, Short palpe... |
OMIM:164200 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Bilateral microphthalmos, Upper e... |
OMIM:154500 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Arachnoid Cyst |
|
Ptosis, Inability to walk, Gait disturbance, Mydriasis |
ORPHA:2356 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Retinal dysplasia |
OMIM:601374 |
| Basal Cell Nevus Syndrome 1 |
|
Cataract, Ovarian fibroma, Hypertelorism, Orbital cyst, Ovarian carcinoma, Microphthalmia, Iris c... |
OMIM:109400 |
| Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-mutilation o... |
ORPHA:2388 |
| Ring Chromosome 21 Syndrome |
|
Decreased circulating antibody level |
ORPHA:1445 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Decreased circulating antibody level |
ORPHA:99811 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia |
OMIM:611126 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture... |
OMIM:208050 |
| Galloway-Mowat Syndrome 3 |
|
Epicanthus, Hiatus hernia, Hypoalbuminemia, Camptodactyly, Microphthalmia, Failure to thrive, Dow... |
OMIM:617729 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Epicanthus, Hypertelorism, Cryptorchidism, Synophrys, Nasolacrimal duct obstruction, Upslanted pa... |
OMIM:613458 |
| Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Lacrim... |
ORPHA:69085 |
| Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Epicanthus, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Ectopia pupilla... |
OMIM:194190 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Cataract, Unilateral cryptorchidism, Decreased respons... |
OMIM:613406 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Dystonia, Neonatal alloi... |
ORPHA:51 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Hypothermia |
ORPHA:226316 |
| Orofaciodigital Syndrome Type 14 |
|
Telecanthus, Bilateral cryptorchidism, Upslanted palpebral fissure, Retinal coloboma, Molar tooth... |
ORPHA:434179 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Epicanthus, Cataract, Apnea, Corneal opacity, Osteolysis, Acute lymphoblastic leukemia, Microphth... |
ORPHA:1052 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocyt... |
ORPHA:3322 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Epicanthus, Astigmatism, Joint contracture of the 5th finger, Attention deficit hyperactivity dis... |
OMIM:619934 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Elevated hemoglobi... |
OMIM:619127 |
| Orofaciodigital Syndrome Xiv |
|
Telecanthus, Retinitis, Cryptorchidism, Optic disc coloboma, Upslanted palpebral fissure, Retinal... |
OMIM:615948 |
| Orofaciodigital Syndrome Vi |
|
Molar tooth sign on MRI, Epicanthus, Hypertelorism |
OMIM:277170 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
| Down Syndrome |
|
Brushfield spots, Epicanthus, Upslanted palpebral fissure |
OMIM:190685 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia, Cryptophthalmos, Ankyloblepharon |
OMIM:123570 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreas... |
ORPHA:227990 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Downslanted palpebral fissures, Increased mean platelet volume |
OMIM:300048 |
| Fetal Alcohol Syndrome |
|
Microphthalmia, Epicanthus, Telecanthus, Ptosis |
ORPHA:1915 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, ... |
OMIM:600901 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the pon... |
ORPHA:468631 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Conjunctivitis, Absent circulating B cells, Panhypog... |
OMIM:307200 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Hypotelorism, Proptosis, Chorioretinal coloboma, Microph... |
OMIM:157170 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Epicanthus, Hypertelorism, Cryptorchidism, Deeply set eye, Microphthalmia, Cafe-au-lait spot |
OMIM:619148 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Rod-cone dystrophy, Thrombocytopenia |
ORPHA:96181 |
| Adult Syndrome |
|
Absent nipple, Nasolacrimal duct obstruction, Melanocytic nevus, Hypoplastic nipples, Freckling, ... |
ORPHA:978 |
| Immune Thrombocytopenia |
|
Epistaxis, Thrombocytopenia |
ORPHA:3002 |
| Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Microphthalmia, ... |
OMIM:227650 |
| Seckel Syndrome 2 |
|
Few cafe-au-lait spots, Microphthalmia |
OMIM:606744 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreas... |
ORPHA:227982 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Hypothermia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dementia, Gait disturbance, Cogn... |
ORPHA:99027 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... |
OMIM:620066 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hypoventilation, Hepatomegaly, Elevated hepatic transaminase, Microvesicul... |
OMIM:203700 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anem... |
OMIM:274000 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, Neutropenia, Failure to th... |
OMIM:617941 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Decreased retinol-binding protein level, I... |
ORPHA:449395 |
| Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Hypotelorism, Upslanted palpebral fissure, Microphthalmia, Cyclopia |
OMIM:264480 |
| Diamond-Blackfan Anemia 21 |
|
Unilateral ptosis, Erythroid hypoplasia, Synophrys, Obesity, Anemia, Horizontal eyebrow, Downslan... |
OMIM:620072 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia |
ORPHA:2547 |
| Curry-Jones Syndrome |
|
Blepharophimosis, Microphthalmia, Iris coloboma |
OMIM:601707 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Limb joint contracture, Postural tremor, Splenomegaly, Micronodular cirrhosis, Flex... |
OMIM:301072 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
| Fryns Syndrome |
|
Cryptorchidism, Microphthalmia, Corneal opacity, Hypertelorism |
ORPHA:2059 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Telecanthus, Lacrimal duct stenosis, Decreased response to growth hormone stimulat... |
ORPHA:506358 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Decreased circulating antibody level |
ORPHA:1006 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Gait disturbance, Abnormal brainstem morphology |
ORPHA:88619 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Hypotelorism |
OMIM:619053 |
| Fraser Syndrome 1 |
|
Absent eyebrow, Anophthalmia, Corneal opacity, Hypertelorism, Absent eyelashes, Cryptorchidism, B... |
OMIM:219000 |
| Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertro... |
OMIM:601992 |
| Branchiootorenal Syndrome 1 |
|
Lacrimal duct aplasia, Euthyroid goiter, Lacrimal duct stenosis |
OMIM:113650 |
| Isolated Osteopoikilosis |
|
Dacryocystitis |
ORPHA:166119 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration |
OMIM:301054 |
| Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow fl... |
ORPHA:1692 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Spontaneous, recurrent epistaxis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Whim Syndrome |
|
Sinusitis, Pneumonia, Recurrent pneumonia, Neutropenia, Bronchiectasis, Abnormal neutrophil morph... |
ORPHA:51636 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Absent eyelashes, Absent lacrimal punctum, Epicanthus, Lacrimal duct aplasia |
OMIM:620193 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Epistaxis, Thrombocytopenia |
OMIM:277480 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Elevated hepatic transaminase, Epicanthus, Failure to thrive in infancy, Osteoporosis... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Elevated hepatic transaminase, Epicanthus, Failure to thrive in infancy, Osteoporosis... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Elevated hepatic transaminase, Epicanthus, Failure to thrive in infancy, Osteoporosis... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Elevated hepatic transaminase, Epicanthus, Failure to thrive in infancy, Osteoporosis... |
ORPHA:881 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2538 |
| Branchiootic Syndrome 3 |
|
Lacrimal duct stenosis |
OMIM:608389 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Short palpebral fissure |
OMIM:251230 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Cataract, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behav... |
ORPHA:353281 |
| Hallermann-Streiff Syndrome |
|
Telecanthus, Sparse eyelashes, Sparse eyebrow, Respiratory insufficiency, Developmental cataract,... |
ORPHA:2108 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
| Monosomy 18Q |
|
Epicanthus, Slender build, Abnormal retinal morphology, Choreoathetosis, Failure to thrive, Downs... |
ORPHA:1600 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Synophrys... |
ORPHA:487796 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Keratoconjunctivitis sicca, Absent lower eyelashes, Anemia |
OMIM:620370 |
| Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Retinal arteriolar tortuosity, Blue irides, Hypotelori... |
OMIM:194050 |
| Quebec Platelet Disorder |
|
Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Hypertelorism, Synophrys, Thin eyebrow, Microphthalmia, Cafe-au-lai... |
OMIM:608670 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Posterior subcapsular cataract, Delayed ossification of carpal bones, Neutropenia, La... |
OMIM:271510 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Hypertelorism, Abnormal eyelash ... |
ORPHA:286 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Ptosis, Microphthalmia, Blepharophimosis, Cryptorchidism |
ORPHA:2728 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Hypotelorism, Microphthalmia, Cyclopia, Iris coloboma |
ORPHA:3186 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Hypertelorism |
OMIM:616920 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Bradykinesia, Impotence, Gait dist... |
ORPHA:93256 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Hepatic hemangioma... |
ORPHA:2330 |
| Myhre Syndrome |
|
Cataract, Ataxia, Hypertelorism, Cryptorchidism, Deeply set eye, Narrow palpebral fissure, Blepha... |
OMIM:139210 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Abnormality of the pancreas, Reduced bone mineral density, Agammaglobulinemia, C... |
ORPHA:935 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
| Limb-Mammary Syndrome |
|
Lacrimal duct atresia, Hypoplastic nipples |
OMIM:603543 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
| Charge Syndrome |
|
Omphalocele, Cataract, Anophthalmia, Self-mutilation, Unilateral microphthalmos, Coloboma, Retina... |
OMIM:214800 |
| Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Aplastic anemia, Thrombocytopenia |
OMIM:300514 |
| Fanconi Anemia, Complementation Group R |
|
Anemia, Microphthalmia, Bone marrow hypocellularity, Radial dysplasia |
OMIM:617244 |
| Wolfram Syndrome 2 |
|
Optic neuropathy, Optic atrophy, Decreased circulating antibody level, Depression, Impaired colla... |
OMIM:604928 |
| Tolchin-Le Caignec Syndrome |
|
Hooded eyelid, Hypertelorism, Nasolacrimal duct obstruction, Short palpebral fissure, Thick eyebrow |
OMIM:618971 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Depression, Leukopenia, Decreased circulating complement C3 concentration, Decr... |
ORPHA:536 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Epicanthus, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenit... |
OMIM:105650 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibrosis, Steatorrhea, Fa... |
OMIM:616263 |
| Osteogenesis Imperfecta |
|
Osteopenia, Inguinal hernia, Neonatal respiratory distress, Small for gestational age, Abnormal d... |
ORPHA:666 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Inguinal hernia, Epicanthus, Apnea, Genital hernia, Cystocele, Osteolysis, Depressio... |
ORPHA:285 |
| Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphol... |
ORPHA:2273 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis |
OMIM:231530 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Hypothermia |
ORPHA:90673 |
| Orofaciodigital Syndrome Type 2 |
|
Central retinal vessel vascular tortuosity, Telecanthus, Tachypnea, Apnea |
ORPHA:2751 |
| Fryns Syndrome |
|
Omphalocele, Ectopic pancreatic tissue, Large for gestational age, Blepharophimosis, Narrow palpe... |
OMIM:229850 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
| Monosomy 9P |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Synophrys, Upslanted palpebral ... |
ORPHA:261112 |
| Sponastrime Dysplasia |
|
Epicanthus, Cataract, Small for gestational age, Delayed epiphyseal ossification, Recurrent pneum... |
ORPHA:93357 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Catel-Manzke Syndrome |
|
Hypertelorism, Cryptorchidism, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Propto... |
OMIM:616145 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Coloboma, Compulsive behaviors, Aspiration, Abnormal repetitive mannerisms, Hyperactivity, Highly... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Coloboma, Compulsive behaviors, Aspiration, Abnormal repetitive mannerisms, Hyperactivity, Highly... |
ORPHA:353277 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Epicanthus, Elevated circulating luteinizing hormone level, Highly arched eyebrow, Sparse eyebrow... |
OMIM:618419 |
| Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia, Telangiectasia |
OMIM:305600 |
| Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
| Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Decreased number... |
OMIM:129400 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Tremor, Synophrys, Nuclear pulveru... |
OMIM:612474 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia |
ORPHA:1772 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
| Alport Syndrome 1, X-Linked |
|
Corneal erosion, Developmental cataract, Anterior lenticonus, Lenticonus, Thrombocytopenia |
OMIM:301050 |
| Teebi-Shaltout Syndrome |
|
Telecanthus, Highly arched eyebrow, Hypertelorism, Microphthalmia, Ptosis |
OMIM:272950 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Inguinal hernia, Epicanthus, Small for gestational age, Optic nerve hypopla... |
ORPHA:508488 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Lacrimal duct stenosis, Anterior pituitary hypoplasia, Hypertelorism, Cryptorchidism, Chordee |
OMIM:151050 |
| Orthostatic Hypotension 1 |
|
Ptosis, Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen |
OMIM:223360 |
| Occipital Horn Syndrome |
|
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Hypothermia, ... |
ORPHA:198 |
| Carpenter Syndrome 2 |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Bilateral cryptorchidism, Sparse eyebrow, Crypt... |
OMIM:614976 |
| Legius Syndrome |
|
Short attention span, Hyperactivity, Paroxysmal atrial tachycardia, Attention deficit hyperactivi... |
ORPHA:137605 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia |
OMIM:300863 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
| Roberts Syndrome |
|
Cataract, Hypertelorism, Cryptorchidism, Proptosis, Microphthalmia |
ORPHA:3103 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Epicanthus, Hypertelorism, Cryptorchidism, Antecubital pterygium, Popliteal pterygium, Blepharoph... |
OMIM:609945 |
| Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
| Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Premature ventricular contraction |
OMIM:617072 |
| Fanconi Anemia, Complementation Group L |
|
Upslanted palpebral fissure, Bone marrow hypocellularity, Attention deficit hyperactivity disorde... |
OMIM:614083 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Dextrocardia |
|
Abnormal EKG, T-wave inversion |
ORPHA:1666 |
| Meckel Syndrome 14 |
|
Pneumothorax, Cardiorespiratory arrest, Decreased calvarial ossification, Hepatic fibrosis, Micro... |
OMIM:619879 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Hypothermia, Overweight, Delayed proximal femoral epiphyseal ossification... |
ORPHA:226307 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Bile duct proliferation |
OMIM:611561 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
| Renpenning Syndrome 1 |
|
Epicanthus, Cataract, Telecanthus, Upslanted palpebral fissure, Coloboma, Microphthalmia, Decreas... |
OMIM:309500 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Molar tooth sign on MRI, Small pituitary gland |
OMIM:619479 |
| Nocardiosis |
|
Keratitis, Chorioretinitis, Conjunctivitis, Dacryocystitis |
ORPHA:31204 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia |
ORPHA:163966 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Retinal dystrophy, Female hypogonadism, Sclerocornea, Cryptorchidism, Orbital cyst,... |
OMIM:607932 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
| Neu-Laxova Syndrome 1 |
|
Ablepharon, Cataract, Hypertelorism, Absent eyelashes, Cryptorchidism, Proptosis, Microphthalmia,... |
OMIM:256520 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Cryptorchidism, Hypotelorism, Microphthalmia, Cyclopia, Thyroid hypoplasia |
ORPHA:2166 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Keratoconus, Inguinal hernia, Spontaneous pneumothorax, Repeated pneumothoraces,... |
OMIM:130050 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
| Yunis-Varon Syndrome |
|
Cataract, Sparse eyelashes, Sclerocornea, Hypertelorism, Sparse eyebrow, Cryptorchidism, Bilatera... |
ORPHA:3472 |
| Meckel Syndrome, Type 2 |
|
Microphthalmia, Bile duct proliferation |
OMIM:603194 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia |
OMIM:605432 |
| Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
| Branchiootic Syndrome |
|
Abnormal nasolacrimal system morphology |
ORPHA:52429 |
| Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum |
ORPHA:2315 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Epicanthus, Failure to thrive in infancy, Optic nerve hypoplasia, Sagittal cr... |
ORPHA:500150 |
| Woodhouse-Sakati Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Choreoathetosis, Mental deterioration, Abn... |
ORPHA:3464 |
| Saethre-Chotzen Syndrome |
|
Abnormal nasolacrimal system morphology, Hypertelorism, Buphthalmos, Shallow orbits, Ptosis |
OMIM:101400 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Telecanthus, Cataract, Asplenia, Flexion contracture, Bruxism, Dysphagia, Decreased circulating a... |
ORPHA:261537 |
| Double Outlet Left Ventricle |
|
Failure to thrive, Tachypnea |
ORPHA:3427 |
| Bor Syndrome |
|
Abnormal lacrimal duct morphology |
ORPHA:107 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hypogonadism, Cryptorchidism, Abnormal nasolacrimal system morphology, Hypertelorism |
ORPHA:2658 |
| Viss Syndrome |
|
Retinal detachment, Inguinal hernia, Ectropion, Dyspnea, Asthma, Pneumothorax, Hypereosinophilia,... |
OMIM:619472 |
| Isolated Arrhinia |
|
Microphthalmia, Eyelid coloboma, Hypertelorism |
ORPHA:1134 |
| Malt Lymphoma |
|
Abnormal nasolacrimal system morphology, Posterior uveitis |
ORPHA:52417 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
OMIM:147750 |
| Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Dyspnea, Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholeste... |
ORPHA:391665 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Stridor, Hyperbilirubinemia, Umbilical he... |
OMIM:218700 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Absent lacrimal punctum, Generalized hyperpigmentation, Sparse eyelashes, Supernumerary nipple, S... |
ORPHA:1071 |
| Mowat-Wilson Syndrome |
|
Broad eyebrow, Telecanthus, Cataract, Asplenia, Flexion contracture, Bruxism, Dysphagia, Decrease... |
ORPHA:2152 |
| Ivic Syndrome |
|
Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pulmonic stenosis |
ORPHA:3384 |
| Fraser Syndrome 2 |
|
Microphthalmia, Respiratory failure, Hypoplasia of the thymus, Cryptophthalmos |
OMIM:617666 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
| Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Distal Deletion 19P |
|
Vaginal hernia, Decreased circulating antibody level, Umbilical hernia, Keloids, Thick eyebrow |
ORPHA:96129 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
| Townes-Brocks Syndrome |
|
Cataract, Blepharophimosis, Cryptorchidism, Chorioretinal coloboma, Limbal dermoid, Microphthalmi... |
ORPHA:857 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Cryptorchidism, Microp... |
OMIM:146510 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
| Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Hypertelorism, Cryptorchidism, Coloboma, Eyelid coloboma, Proptosis, O... |
OMIM:268300 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia, Cataract, Adrenal gland agenesis |
OMIM:273395 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Abnormal nasolacrimal system morphology, Cryptorchidism, Ectopic thyroid, Ble... |
ORPHA:3047 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Cryptorchidism, Optic disc coloboma, Microcornea, Ciliary body coloboma, Chorioreti... |
OMIM:309800 |
| Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Abnormal T-wave, Diabetes mellitus |
OMIM:241080 |
| Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
| Menkes Disease |
|
Inguinal hernia, Hypothermia, Osteoporosis, Atypical scarring of skin, Hernia, Prolonged neonatal... |
ORPHA:565 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
| Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Inability to walk, Abnormal brainstem morp... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Inability to walk, Abnormal brainstem morp... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Inability to walk, Abnormal brainstem morp... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Inability to walk, Abnormal brainstem morp... |
ORPHA:93924 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... |
ORPHA:91347 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Absent gallbladder, Hypertelorism |
OMIM:617925 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia |
OMIM:618280 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Epicanthus, Failure to thrive... |
OMIM:163950 |
| Pallister-Hall Syndrome |
|
Inguinal hernia, Large for gestational age, Respiratory insufficiency, Distal arthrogryposis, Mic... |
ORPHA:672 |
| Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Optic nerve hypoplasia, Premature ventricular cont... |
OMIM:602535 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |
| Holoprosencephaly 1 |
|
Microphthalmia, Cyclopia, Hypotelorism |
OMIM:236100 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
| Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Fair hair, Conjunctival icterus, Cryptorchidism, Upslanted palpebral fis... |
OMIM:243800 |
| Adams-Oliver Syndrome 1 |
|
Microphthalmia, Supernumerary nipple |
OMIM:100300 |
| Leukocyte Adhesion Deficiency |
|
Vaginitis, Conjunctivitis, Nasolacrimal sac granuloma |
ORPHA:2968 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Microphthalmia, Accessory spleen |
OMIM:236680 |
