| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Chorioretinal colobom... |
ORPHA:231736 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... |
OMIM:180550 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperammonemia, Hypernatremia, Hypoornithinemia, Hyperprolinemia, Low plasma cit... |
OMIM:615751 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... |
OMIM:610202 |
| Chronic Bilirubin Encephalopathy |
|
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Conjunctival icterus, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Abnormal conju... |
ORPHA:529799 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
| Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... |
OMIM:617319 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Megalocornea |
|
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
| Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... |
ORPHA:3008 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... |
OMIM:136800 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Lattice Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... |
ORPHA:98964 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypernatremia, Hypoglycemia, Hyperglycinemia, Hyperglycemia |
OMIM:620423 |
| Microphthalmia/Coloboma 12 |
|
Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colo... |
OMIM:120200 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyponatremia |
ORPHA:199296 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Optic nerve hypoplasia, Hyponatremia, Cataract |
OMIM:620157 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Optic atrophy, Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:614736 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Persistent Hyperplastic Primary Vitreous |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys... |
ORPHA:91495 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Optic disc pallor |
OMIM:618970 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t... |
OMIM:221900 |
| Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Coloboma, Microcornea, Abnorma... |
ORPHA:2334 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... |
OMIM:618858 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... |
OMIM:613270 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... |
OMIM:269400 |
| Diabetes And Deafness, Maternally Inherited |
|
Retinal degeneration, Hyperglycemia, Type II diabetes mellitus, Pigmentary retinopathy |
OMIM:520000 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:610582 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Coloboma, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye apl... |
OMIM:610256 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Diabetes mellitus |
OMIM:613845 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe... |
OMIM:606176 |
| Alg8-Cdg |
|
Optic atrophy, Hyponatremia, Cataract |
ORPHA:79325 |
| Familial Dysautonomia |
|
Optic atrophy, Corneal erosion, Corneal opacity, Heterochromia iridis, Hyponatremia, Abnormal pup... |
ORPHA:1764 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system |
OMIM:165550 |
| Congenital Primary Aphakia |
|
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... |
ORPHA:83461 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia |
ORPHA:682 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Hyponatremia, Cataract |
OMIM:620155 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Glycosuria, Hyponatremia, Astigmatism |
ORPHA:97362 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea |
OMIM:217300 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... |
OMIM:122000 |
| Juvenile Nephropathic Cystinosis |
|
Hypokalemia, Hypocalcemia, Hypouricemia, Glycosuria, Hyponatremia, Corneal crystals, Hypophosphat... |
ORPHA:411634 |
| Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:267700 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:171876 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Astigmatism, Hyperglycemia, Cataract, Retinal degeneration |
OMIM:615986 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Coloboma, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Granular Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... |
ORPHA:98962 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia |
ORPHA:173 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Cataract |
OMIM:617913 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... |
ORPHA:171673 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring |
OMIM:602082 |
| Norrie Disease |
|
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... |
OMIM:310600 |
| Infant Botulism |
|
Hyponatremia, Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis |
ORPHA:391673 |
| Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... |
ORPHA:293603 |
| Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia, Neonatal insulin-dependent dia... |
ORPHA:1667 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Ketotic hypoglycemia, Hyponatremia, Hypoglycemic seizures |
ORPHA:361 |
| Neurotrophic Keratopathy |
|
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... |
ORPHA:137596 |
| Anterior Segment Dysgenesis 6 |
|
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... |
OMIM:617315 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:617053 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:619381 |
| Cystinosis, Nephropathic |
|
Recurrent corneal erosions, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, D... |
OMIM:219800 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:609812 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hypoglycemia, Hyponatremia, Hypercalcemia, Type I diabetes mellitus |
ORPHA:199299 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Shigellosis |
|
Corneal ulceration, Hyponatremia, Conjunctivitis, Abnormal blood ion concentration, Hypoglycemia |
ORPHA:810 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... |
OMIM:604367 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... |
OMIM:262190 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia, Hyperkalemia |
ORPHA:90791 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... |
OMIM:603553 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
ORPHA:90790 |
| Alg12-Cdg |
|
Retinal detachment, Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
| Generalized Pustular Psoriasis |
|
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Mydriasis |
ORPHA:95613 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:613090 |
| Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... |
ORPHA:70476 |
| Whipple Disease |
|
Insulin resistance, Hyponatremia |
ORPHA:3452 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia, Hypo... |
ORPHA:95409 |
| Pierson Syndrome |
|
Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Remnan... |
OMIM:609049 |
| Holoprosencephaly |
|
Optic atrophy, Cyclopia, Hyponatremia, Chorioretinal coloboma, Hypoglycemia, Diabetes mellitus, I... |
ORPHA:2162 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Optic neuropathy, Hyperammonem... |
OMIM:610505 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina... |
OMIM:614643 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Mody |
|
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Glycosuria,... |
ORPHA:552 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration |
ORPHA:79473 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Addison Disease |
|
Hyperkalemia, Hyperuricemia, Hypoglycemia, Increased circulating renin level, Hyponatremia, Hyper... |
ORPHA:85138 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Hypoproteinemia, Hyponatremia, Iris hypopigmentation, Abnormality of retina... |
ORPHA:167 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating cholesterol concentration, Increased ci... |
ORPHA:289548 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia |
ORPHA:293978 |
| Sheehan Syndrome |
|
Hyponatremia, Hypoglycemia |
ORPHA:91355 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Corneal opacity, Hyponatremia, Hypophosphatemia, Cataract, Buphthalmos, Hypercholest... |
ORPHA:534 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:602522 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Glycosuria, Corneal crystals, Hypophosphatemia, Abnormal blood ion concentration, Ab... |
ORPHA:411629 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyponatremia, Hyperkalemia, Diabetes mellitus |
ORPHA:544482 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Hyponatremia, Hyperkalemia, Hypercholesterolemia |
ORPHA:275761 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Atelis Syndrome 2 |
|
Hyperinsulinemia, Developmental cataract, Remnants of the hyaloid vascular system |
OMIM:620185 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Norrie Disease |
|
Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t... |
ORPHA:649 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me... |
OMIM:615812 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperlipidemia, Hyponatremia, Hyperglycemia |
ORPHA:293987 |
| Liver Disease, Severe Congenital |
|
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... |
OMIM:619991 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Hypochloremia |
ORPHA:90794 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Increased serum bile acid concentration |
ORPHA:731 |
| Full Nf2-Related Schwannomatosis |
|
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system |
ORPHA:637 |
| Neuroocular Syndrome |
|
Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp... |
OMIM:619539 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hyperkalemia, Hyponatremia, Hypoglycemia, Decreased circulating renin level |
OMIM:201750 |
| Microphthalmia, Syndromic 2 |
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Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmental cataract,... |
OMIM:300166 |
| Holoprosencephaly 2 |
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Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
| Acromelic Frontonasal Dysostosis |
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Optic nerve hypoplasia, Remnants of the hyaloid vascular system |
OMIM:603671 |
| Aprosencephaly And Cerebellar Dysgenesis |
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Aprosencephaly |
OMIM:601374 |
| Full Schwannomatosis |
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Cataract |
ORPHA:93921 |
| Coenzyme Q10 Deficiency, Primary, 6 |
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OMIM:614650 |
