| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter |
OMIM:616534 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter |
ORPHA:319487 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Abnormal tubulointerstitial morphol... |
ORPHA:411629 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemi... |
OMIM:144300 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Ectopia lentis, Hyperlysinuria, Cognitive impairment, Hyperl... |
OMIM:238700 |
| Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
| Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder |
OMIM:301033 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Cystinosis, Nephropathic |
|
Progressive neurologic deterioration, Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syn... |
OMIM:219800 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Pheochromocytoma, Elevated circulating calcitonin concentration, Nod... |
ORPHA:1332 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals, Proteinuria, Stage 5 chronic kidney disease, Rickets |
OMIM:219900 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, EEG abnormality, Prolinuria... |
OMIM:239500 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Mucolipidosis Iv |
|
Corneal opacity, Progressive neurologic deterioration, Optic atrophy, Opacification of the cornea... |
OMIM:252650 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
| Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Osteoporosis, Depression, Memory impairment, Hyperostosis frontalis interna, Hype... |
ORPHA:77296 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Irritability, Hyp... |
OMIM:605899 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... |
OMIM:620211 |
| Saccharopinuria |
|
Citrullinuria, Elevated circulating sacchoropine concentration, Histidinuria, Saccharopinuria, EE... |
OMIM:268700 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Increased level of hippuric acid in urin... |
OMIM:261600 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
| Saccharopinuria |
|
Citrullinuria, Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperly... |
ORPHA:3124 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Brachyolmia Type 1, Toledo Type |
|
Increased urinary disaccharide excretion, Precocious costochondral ossification, Opacification of... |
OMIM:271630 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| Cowden Syndrome 7 |
|
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter |
OMIM:616858 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Osteomyelitis, Keratitis, Corneal scarring, Corneal ulceration, Abnormal autonomic... |
OMIM:256800 |
| Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Tremor, Dementia, Hypoalbuminemia, Cognitive ... |
OMIM:208920 |
| Galactokinase Deficiency |
|
Psychomotor deterioration, Cataract, Sensorineural hearing impairment, Increased level of galacti... |
ORPHA:79237 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma, Attention deficit hyperactivity disorder |
ORPHA:461 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615108 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormal renal morphology, Self hugging, Head-banging, EEG a... |
OMIM:182290 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Macroorchidism, Pituitary hypothyroidism, Decreased ... |
ORPHA:90674 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoac... |
OMIM:234500 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615109 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia, Tremor, Dystonia, Mental deterioration |
OMIM:615924 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circulating free T3,... |
ORPHA:525731 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Craniosynostosis, Depression, Self-injurious behavior, C... |
OMIM:601853 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Sensorineural hearing impairme... |
ORPHA:52368 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairment, Dyst... |
OMIM:616267 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, ... |
OMIM:604278 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... |
ORPHA:562 |
| Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... |
ORPHA:98818 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... |
OMIM:158350 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Opacification of the corneal stroma, Gene... |
OMIM:215250 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Sensorineural hearing impairment, Protruding ear, Hypoplasia of the iri... |
ORPHA:2479 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Norrie Disease |
|
Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairment, Optic atrophy, ... |
OMIM:310600 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Joint stiffness |
OMIM:252605 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior, Tortuosity of conjunctival vessels, Increased urinary disacch... |
OMIM:248510 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma |
OMIM:603776 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Recurrent urinary tract infections, Vesicour... |
OMIM:244600 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra... |
OMIM:277460 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Hyperthyroidism, Hypogonadotropic hypogonadism, Female hypogonadism, El... |
ORPHA:91347 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Renal hypoplasia/aplasia, Joint stiffness, Abnormality of the ureter, Abnor... |
ORPHA:819 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder, Hypsarrhythmia |
OMIM:617113 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma |
OMIM:144010 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Optic nerve dysplasia, Aminoaciduria, Polycystic kidney dysplasia, Ca... |
OMIM:214110 |
| Mucopolysaccharidosis Type 3 |
|
Progressive neurologic deterioration, Flexion contracture, Reduced bone mineral density, Thickene... |
ORPHA:581 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
| Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... |
ORPHA:276399 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, EEG with generalized epileptifo... |
OMIM:619827 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Anorexia |
ORPHA:99852 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Hyperactivity, Increased level of gamma-aminobutyric acid... |
OMIM:271980 |
| Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, EEG abnormality, EEG with focal sharp slow waves, Mental dete... |
ORPHA:2382 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
| Mucopolysaccharidosis Type 6 |
|
Joint stiffness, Mucopolysacchariduria, Opacification of the corneal stroma, Cognitive impairment... |
ORPHA:583 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Elevated circulating creatine kinase concentration, Irritability, Aminoaciduria, Facial diplegia,... |
OMIM:609560 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Tremor, Decreased nerve conduction velocity, EEG ... |
ORPHA:206443 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... |
OMIM:603358 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... |
OMIM:162300 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Hypospadias, Posteriorly rotated ears, Brushfield spots, Sensorineur... |
OMIM:214100 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... |
ORPHA:3077 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Rasmussen Subacute Encephalitis |
|
Hyperactivity, Hemidystonia, Increased theta frequency activity in EEG, EEG with focal epileptifo... |
ORPHA:1929 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... |
ORPHA:320401 |
| Dent Disease |
|
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... |
ORPHA:1652 |
| Neuhauser Syndrome |
|
Osteopenia, Iridodonesis, Cupped ear, Large fleshy ears, Hypoplasia of the iris, Dysphagia, Hyper... |
OMIM:249310 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Joint hypermobility |
ORPHA:254531 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased... |
ORPHA:247598 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Joint stiffness, Reduced bone mineral density, Cognit... |
ORPHA:577 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cataract, Joint hypermobility, Low plasma citrulline, Hyperammonemia, Athetosis, Hypoprolinemia, ... |
OMIM:219150 |
| Temple Syndrome |
|
Hypertriglyceridemia, Posteriorly rotated ears, Flexion contracture, Hypercholesterolemia, Joint ... |
OMIM:616222 |
| Hurler Syndrome |
|
Corneal opacity, Progressive neurologic deterioration, Joint stiffness, Heparan sulfate excretion... |
OMIM:607014 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... |
ORPHA:209905 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Dystonia, Proteinuria, Cataract, Macrotia, Opti... |
OMIM:251300 |
| Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Cog4-Cdg |
|
Hypercholesterolemia, Irritability |
ORPHA:263501 |
| Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Hypergalactosemia, Sensorineural hearing impairment |
OMIM:230350 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Posteriorly rotated ears, Sensorineural hearing impairment, Axenfeld anomaly, Low-s... |
OMIM:612582 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoplasia of penis, Osteoarthritis |
ORPHA:633 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Carpenter Syndrome 1 |
|
Hydroureter, Abnormal pinna morphology, Sagittal craniosynostosis, Sensorineural hearing impairme... |
OMIM:201000 |
| Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Xanthelasma, O... |
ORPHA:425 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
OMIM:619386 |
| Ophthalmomandibulomelic Dysplasia |
|
Decreased mobility 3rd-5th fingers, Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss... |
OMIM:300009 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Freq... |
OMIM:620141 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Corneal opacity, Joint stiffness, Osteoporosis, Opacification of the corneal stroma... |
OMIM:253010 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Cataract, Confusion, Band keratopathy, Sensorineural ... |
ORPHA:79443 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Renal steatosis, Gout, Increased L... |
ORPHA:412 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Rickets, General... |
OMIM:613388 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Irri... |
OMIM:616881 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism, Increased serum beta-hexosaminidase, ... |
OMIM:252600 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Hypospadias, Conjugated hyperbilirubinemia, Brushfield spots, Sensorineural hearing imp... |
OMIM:614866 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, EEG with generalized slow activity, Orthostatic hypotension, ... |
ORPHA:99027 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Protruding ear, A... |
ORPHA:534 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys... |
OMIM:612716 |
| Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger |
ORPHA:1325 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glo... |
OMIM:242900 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal ... |
OMIM:618718 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Progressive neurologic deterioration, Memory impairment, Addictive alcohol use, Cognitive impairm... |
ORPHA:90065 |
| Thyroid Ectopia |
|
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid |
ORPHA:95712 |
| Pseudo-Torch Syndrome 1 |
|
Renal insufficiency, Cataract, Dystonia, Opacification of the corneal stroma, Low-set ears |
OMIM:251290 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Goiter |
ORPHA:254892 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Proteinuria, Corneal opacity, Stage 5 chronic kidney disease, Os... |
OMIM:166300 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... |
ORPHA:733 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Mucopolysaccharidosis, Type Iva |
|
Joint laxity, Osteoporosis, Opacification of the corneal stroma, Chondroitin sulfate excretion in... |
OMIM:253000 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Arthritis, Xanthelasm... |
OMIM:210250 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, EEG abnormality, Inappropriate laughter, Polyphagia, Iris hy... |
ORPHA:411515 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Atresia of the external auditory canal, Opacification of the corneal stroma |
OMIM:601356 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Corneal opacity, Rickets, Renal tubular dysfunction, Hypokalemi... |
ORPHA:213 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Diminished ability to concentrate, Recurrent han... |
OMIM:615516 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Hypospadias, Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hearin... |
OMIM:601499 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Increased circulating cortisol level, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Glycosuria, Aminoacidu... |
OMIM:615605 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, EEG with spike-wave complexes, Aggressive behavior, EEG with photoparoxysmal respo... |
ORPHA:168491 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Hematuria, Posterior ... |
ORPHA:1473 |
| Branchiootorenal Syndrome 1 |
|
Euthyroid goiter |
OMIM:113650 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Keratitis, Sensorineural hearin... |
ORPHA:910 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Cataract, Urinary incontinence, Narcolepsy, Sensorineural hearing impairment, Opt... |
ORPHA:314404 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Bone cyst, Increased C-peptide level |
ORPHA:528 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Urinary incontinence, Optic nerve hypoplasia,... |
ORPHA:101085 |
| Optic Atrophy 11 |
|
Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia, EEG with foca... |
OMIM:617302 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Sensorineural hearing... |
OMIM:612073 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... |
OMIM:133540 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Resting tremor, Short attention span, Optic disc pallor, Juvenile cataract, Abnormal ... |
ORPHA:909 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalan... |
OMIM:259600 |
| Cockayne Syndrome A |
|
Hip contracture, Renal insufficiency, Cataract, Proteinuria, Abnormal pinna morphology, Abnormal ... |
OMIM:216400 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Cataract |
ORPHA:2278 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporosis, Renal tub... |
ORPHA:79240 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Aminoacid... |
OMIM:277900 |
| Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... |
ORPHA:653 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Hypospadias, Cataract, Band keratopathy, Cognitive impai... |
ORPHA:2959 |
| Cowden Syndrome |
|
Follicular thyroid carcinoma, Abnormality of the thyroid gland, Enlarged polycystic ovaries, Aden... |
ORPHA:201 |
| Galactosemia I |
|
Cataract, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosuria, Hype... |
OMIM:230400 |
| Lathosterolosis |
|
Cataract, Osteoporosis, Horseshoe kidney, Abnormal circulating cholesterol concentration, Hyperbi... |
OMIM:607330 |
| Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Progressive neurologic deterioration, Joint stiffness, Heparan sulfate excretion i... |
OMIM:252920 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chloride test |
OMIM:229100 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearing impairment, Abno... |
ORPHA:529808 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Joint hypermobility |
ORPHA:96184 |
| Cln5 Disease |
|
Hyperactivity, Aggressive behavior, Tremor, Multifocal epileptiform discharges, Obsessive-compuls... |
ORPHA:228360 |
| Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus |
OMIM:143890 |
| Olmsted Syndrome 1 |
|
Flexion contracture, Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, EEG with generalized polyspikes, Aggressive behavior, EEG with generalized epilept... |
ORPHA:163681 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... |
OMIM:601455 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporosis, Renal tub... |
ORPHA:264580 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Impulsivity, Flexion contracture,... |
ORPHA:35069 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Contractures of the large join... |
ORPHA:2457 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i... |
ORPHA:309246 |
| Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
| Bietti Crystalline Dystrophy |
|
Crystalline corneal dystrophy |
ORPHA:41751 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Sensorin... |
ORPHA:1933 |
| Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Corneal opacity, Cataract, Tremor, Increased ur... |
ORPHA:812 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Osteoporosis |
OMIM:204730 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Osteoporosis, Stage 5 chronic kidn... |
ORPHA:79259 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Rieger anomaly, Abnormal auditory evoked potentials, Abnormally... |
OMIM:109120 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... |
ORPHA:3047 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Hematuria, Opacification of the corneal stroma, Corneal neovascul... |
OMIM:158310 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials |
OMIM:617523 |
| Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Dysphagia... |
OMIM:601559 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Rheumatoid arthritis, Anterior c... |
ORPHA:85410 |
| Farber Disease |
|
Corneal opacity, Flexion contracture, Osteoporosis, Arthritis, Abnormal conjunctiva morphology, O... |
ORPHA:333 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Optic atrophy, Protruding ear... |
OMIM:152950 |
| Mosaic Trisomy 1 |
|
Abnormal pinna morphology, Camptodactyly of finger, Elbow flexion contracture, Renal cortical cys... |
ORPHA:1692 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Multinodular goiter |
OMIM:620189 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Short attention span, Hyperactivity, EEG with abnormally slow f... |
ORPHA:98794 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Renovascular hypertension |
ORPHA:401923 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Confusion, De... |
ORPHA:309288 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Craniosynostosis, Limitation of joint mobility, ... |
OMIM:252500 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Wagro Syndrome |
|
Cataract, Proteinuria, Corneal opacity, Aggressive behavior, Agitation, Low frustration tolerance... |
OMIM:612469 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, Blue irides, Positive ferric chloride test |
OMIM:250900 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratop... |
OMIM:118450 |
| Hyperlysinemia |
|
Short attention span, Hyperactivity, Craniosynostosis, EEG with spike-wave complexes, Tremor, Arg... |
ORPHA:2203 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short attention span, Hyperactivity, Congenital sensorineural hearing impairment, Sensorineural h... |
ORPHA:73272 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia |
OMIM:300952 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Osteopenia, Joint stiffness, Hyperlipidemia, Flexion contracture, Elbow flexion contr... |
OMIM:248370 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility, Opacification of the corneal stroma |
OMIM:313400 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hearing impairment |
OMIM:256540 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Cataract, Foot joint contracture, Prote... |
ORPHA:90321 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture... |
OMIM:193700 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Sensorineural hearing impairment, Rickets, Nephr... |
ORPHA:18 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Cataract |
ORPHA:79238 |
| Infantile Krabbe Disease |
|
Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic... |
ORPHA:206436 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hypoplasia of the iris, Anterior ... |
OMIM:614195 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Cataract, Abnormal auditory evoked potentials |
OMIM:619260 |
| Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... |
ORPHA:845 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Irritability, Aminoaciduria, Dystonia |
OMIM:250620 |
| X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Hyperactivity, Aggressive behavior, Dementia, Progressive hearing impairment,... |
ORPHA:43 |
| Cockayne Syndrome |
|
Urinary incontinence, Congenital contracture, Lentiglobus, Intention tremor, Renal hypoplasia, Ne... |
ORPHA:191 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Recurrent fractures |
ORPHA:417 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Renal salt wasting, Hyperkalemia, ... |
ORPHA:275761 |
| Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Hyperornithinemia, Aminoaciduria, Subcapsular cataract, Hearing impairment |
ORPHA:414 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Proteinuria, Astigmatism, Hypercholesterolemia, Micropenis |
OMIM:619471 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Irritability, Joint c... |
OMIM:617864 |
| H Syndrome |
|
Hypertriglyceridemia, Recurrent fractures, Abnormality of the kidney, Osteolysis, Corneal arcus, ... |
ORPHA:168569 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability,... |
ORPHA:449291 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Lathosterolosis |
|
Hypoplasia of penis, Cataract, Horseshoe kidney, Microcornea, Opacification of the corneal stroma... |
ORPHA:46059 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Progressive neurologic deterioration |
OMIM:612075 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Attention deficit hyperactivity ... |
ORPHA:281090 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Urinary incontinence, Urinary hesitancy, Sensorineural hearing impairment, Urinary... |
OMIM:609727 |
| Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
| Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
| Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Osteomalacia, Increased urinary potassium, Chroni... |
ORPHA:3337 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Gout, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circula... |
ORPHA:90041 |
| Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, EEG abnormality, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
| Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Nodular goiter, Abnormal sal... |
ORPHA:79078 |
| Oculoectodermal Syndrome |
|
Hyperactivity, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid, Bla... |
OMIM:600268 |
| Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Joint stiffness, Heparan sulfate excretion in urine, Motor deterioration, Dysphagi... |
OMIM:252930 |
| Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Sensorineural hearing impairment, Optic atrophy, Depression, Dementia, Memory impairment |
OMIM:604121 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Urinary incontinence, Progressive neurologic dete... |
ORPHA:206448 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Rickets, Nephrocalcinosis, Glycosuria, Aminoaciduri... |
OMIM:616026 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Osteomalacia, Rickets, Hypercalciuria, G... |
OMIM:227810 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Ectopia lentis |
ORPHA:833 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Hearing impairment, Abnormal preputium morphology, Abnormality of the ur... |
ORPHA:2907 |
| Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Joint stiffness, Sensorineural hearing impairment, Optic atrophy, Muco... |
ORPHA:585 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short attention span, Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
| Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
| Argininemia |
|
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Diaminoaciduria, Hyperargininemia, Orotica... |
OMIM:207800 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hyperphosphaturia, Hypertriglyceridemia, Rickets, Hypercalciuria, Generalized aminoac... |
ORPHA:2088 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Abnormal circulating creatine concentration, Athetosis, Joi... |
ORPHA:52503 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Flexion contracture, Cupped ear, Popliteal pterygium, Microtia, Low-set ears, Pte... |
OMIM:263650 |
| Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
| Fabry Disease |
|
Conjunctival telangiectasia, Corneal dystrophy, Anorexia, Reduced bone mineral density, Nephropat... |
ORPHA:324 |
| Mend Syndrome |
|
Hyperactivity, Cataract, Abnormal auditory evoked potentials, Aggressive behavior, Elevated 8-deh... |
ORPHA:401973 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, EEG abnormality, Progressive language deterioration, Attentio... |
OMIM:610042 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias |
OMIM:610644 |
| D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Nonketotic hyperglyci... |
OMIM:220120 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment, Depression |
OMIM:620114 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Hydronephrosis, Hearing i... |
OMIM:620327 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura... |
ORPHA:293603 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
| Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
| Steinert Myotonic Dystrophy |
|
Short attention span, Oral-pharyngeal dysphagia, Aggressive behavior, Fatigable weakness of bulba... |
ORPHA:273 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Buphthalmos, EEG abn... |
OMIM:253280 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Oromandibular dystonia, Compulsive behaviors,... |
ORPHA:2388 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Limb dystonia, Progressive neurologic deterioration, Hearing impairment, Tremor, ... |
ORPHA:646 |
| Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Aganglionic megacolon, Renal cyst, Low-set ear... |
OMIM:229850 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Recurrent fractures, Hypercalciuria, Amin... |
OMIM:239200 |
| Scheie Syndrome |
|
Corneal opacity, Joint stiffness, Sensorineural hearing impairment, Limitation of joint mobility,... |
ORPHA:93474 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... |
OMIM:617301 |
| Dermotrichic Syndrome |
|
EEG abnormality, Aminoaciduria, Macrotia, Aganglionic megacolon |
ORPHA:99688 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Optic nerve dys... |
OMIM:615287 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Cataract, Optic atrophy, Renal hypoplasia, Nephrocalcinosis... |
OMIM:617913 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response |
ORPHA:3198 |
| Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Oral-pharyng... |
OMIM:615273 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria... |
OMIM:604273 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Low-set e... |
OMIM:208085 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Narcolepsy, Hyperlipidemia, Sensorineural hearing impairment, ... |
ORPHA:293987 |
| Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Corneal opacity, Recu... |
ORPHA:1764 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... |
OMIM:609136 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... |
OMIM:615574 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Optic atrophy, Dysphagia, Dystonia, Mental dete... |
OMIM:610217 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Sensorineural hearing impairment, Decreased circulating copper concentratio... |
OMIM:300972 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Flexion contracture, Optic atrophy |
OMIM:609541 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormality of the kidney, Abnormal auditory evoked potentials, EEG wit... |
ORPHA:171929 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Aminoaciduria, Renal Fa... |
ORPHA:436271 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy |
ORPHA:320406 |
| Intermediate Uveitis |
|
Tubulointerstitial nephritis, Posterior synechiae of the anterior chamber, Cataract, Band keratop... |
ORPHA:279914 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent fractures, Elev... |
ORPHA:355 |
| Blau Syndrome |
|
Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Arthritis, Iritis, Flexion contra... |
OMIM:186580 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Stiff-Person Syndrome |
|
Depression, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Cataract, Polyuria, Developmental cataract, Low-se... |
OMIM:606721 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Sensorineural hearing impairment, Elbow flexion contracture, Corneal arc... |
OMIM:602782 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Camptodactyly of finger, Elevated ... |
OMIM:256040 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Optic disc pallor, Band keratopathy, Developmental cataract, Iris t... |
OMIM:267750 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Mucopolysaccharidosis Type 2 |
|
Progressive neurologic deterioration, Conductive hearing impairment, Abnormal repetitive manneris... |
ORPHA:580 |
| Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentration, Flexi... |
OMIM:253800 |
| Legius Syndrome |
|
Short attention span, Hyperactivity, Cataract, Nephrolithiasis, Xanthelasma, Vestibular schwannom... |
ORPHA:137605 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Tinnitus, Opacification of the corneal stroma, Hearing impairment |
ORPHA:79280 |
| Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration, Urinary incontinence, Orthos... |
OMIM:268800 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Optic atrophy, Dysphagia, Contractures of... |
OMIM:617527 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Band keratopathy, Cataract, Keratoconjunctivitis, Steatorrhea |
OMIM:269200 |
| Noonan Syndrome 9 |
|
Hydroureter, Prominent corneal nerve fibers |
OMIM:616559 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r... |
ORPHA:521426 |
| Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ... |
OMIM:609465 |
| Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Irritability, Aminoaciduria, Or... |
OMIM:207900 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Urinary incontinence, Tremor, Optic atrophy, Phonic tics, Depression, Blepharospas... |
OMIM:234200 |
| Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Short attention span, Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Flexion contracture |
OMIM:618201 |
| Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
| Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:3206 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Multiple joint contractures, Urinary incontinence, Hair-pulling, Hypsarrhythmia, P... |
ORPHA:447997 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Agitation, Truncal titubation |
OMIM:618056 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia |
ORPHA:79330 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypop... |
ORPHA:2166 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Urinary glycosaminoglycan excretion, Low-set ears, Dystonia, Increa... |
ORPHA:79255 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
EEG abnormality, Aminoaciduria, Abnormal pinna morphology |
OMIM:273400 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Osteoporosis, I... |
OMIM:222700 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Short attention span, Nail-biting, Osteomyelitis, Hyperactivity, Impulsivity, Chronic kidney dise... |
ORPHA:642 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Osteopenia, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:619534 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Aganglionic... |
OMIM:308205 |
| Roberts-Sc Phocomelia Syndrome |
|
Cataract, Hypospadias, Posteriorly rotated ears, Ankle flexion contracture, Craniosynostosis, Abn... |
OMIM:268300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Renal tubular dy... |
OMIM:220110 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
EEG abnormality, Aminoaciduria, Hearing impairment, Elevated hepatic iron concentration |
OMIM:614946 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Posteriorly rotated ears, Low-set ears |
OMIM:618598 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Cataract, Elevated circulating C-reactive protein concentration, Anorexia, Anterior ... |
ORPHA:91500 |
| African Trypanosomiasis |
|
Papilledema, Renal insufficiency, Urinary incontinence, Aggressive behavior, Tremor, Narcolepsy, ... |
ORPHA:3385 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Adrenal hypoplasia |
OMIM:308050 |
| Treacher-Collins Syndrome |
|
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia |
ORPHA:861 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
OMIM:620186 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Partial development of the penile shaft |
OMIM:608800 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cataract, Lacticaciduria, Depression, Tubulointerstitial nephritis, Aminoacidur... |
OMIM:124000 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Exaggerated startle response, Dysphagia, EEG with generalized slow activity |
OMIM:618367 |
| Fumarase Deficiency |
|
Increased urine succinate level, Bilateral fetal pyelectasis, Conjunctival icterus, Optic atrophy... |
OMIM:606812 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Sensorin... |
ORPHA:649 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Urethral stricture, Exaggerated startle response, Small earlobe, Hypospadias, Urinary incontinenc... |
OMIM:619522 |
| Hereditary Orotic Aciduria |
|
Low-set, posteriorly rotated ears, Orotic acid crystalluria, Abnormality of the ureter, Aminoacid... |
ORPHA:30 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Joint laxity, Exaggerated startle response, Optic disc pallor, Decreased serum iron, ... |
ORPHA:438213 |
| Tangier Disease |
|
Facial diplegia, Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia |
ORPHA:31150 |
| Pallister-Hall Syndrome |
|
Decreased testicular size, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticot... |
ORPHA:672 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal... |
ORPHA:391665 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Limb dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, De... |
OMIM:175780 |
| Kanzaki Disease |
|
Increased urinary O-linked sialopeptides, Sensorineural hearing impairment, Tortuosity of conjunc... |
OMIM:609242 |
| Noonan Syndrome 10 |
|
Prominent corneal nerve fibers, Low-set ears |
OMIM:616564 |
| Alkaptonuria |
|
Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density, Arthritis, Aminoa... |
ORPHA:56 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Joint laxity, Recurrent urinary tract infections, Short attention span, Hypospadias... |
OMIM:619991 |
| X-Linked Intellectual Disability, Armfield Type |
|
Cataract, Aminoaciduria, Organic aciduria, Galactosuria, Long ear, Macrotia, Limited elbow extension |
ORPHA:85276 |
| Interstitial Lung And Liver Disease |
|
Aminoaciduria, Intraalveolar phospholipid accumulation, Hyperammonemia |
OMIM:615486 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Thyroid hypoplasia, Small pituitary gland, Decreased response to growth hormone stimulation test,... |
OMIM:619503 |
