| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorio... |
ORPHA:231736 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Iris coloboma, Cataract, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... |
OMIM:615751 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal conjunctiva morphology, Conjunctival icterus, Neonatal hyperbilirubinemia, Hypernatremia... |
ORPHA:529799 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... |
OMIM:309300 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... |
ORPHA:3008 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
| Congenital Isolated Acth Deficiency |
|
Hypoglycemic seizures, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia |
ORPHA:199296 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anomaly, Corneal opacity, Ch... |
OMIM:120200 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Optic atrophy, Hyponatremia |
OMIM:608688 |
| Cataract 47 |
|
Glycosuria, Cataract, Microcornea |
OMIM:612018 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Persistent Hyperplastic Primary Vitreous |
|
Tractional retinal detachment, Persistent pupillary membrane, Leukocoria, Hyaloid vascular remnan... |
ORPHA:91495 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:610600 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Retinal nonatt... |
OMIM:221900 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Autosomal Dominant Keratitis |
|
Coloboma, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovasculariza... |
ORPHA:2334 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... |
OMIM:618858 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Anterior Segment Dysgenesis 2 |
|
Coloboma, Posterior synechiae of the anterior chamber, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia, Optic disc pallor |
OMIM:618970 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Congenital Primary Aphakia |
|
Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co... |
ORPHA:83461 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Increased blood urea nitrogen, Diabetes mellitus, Hyponatremia, Hypomagnesemia |
OMIM:613845 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556037 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
| Alg8-Cdg |
|
Cataract, Optic atrophy, Hyponatremia |
ORPHA:79325 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
| Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:556030 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis, Corneal opacity,... |
ORPHA:1764 |
| Herpes Simplex Virus Stromal Keratitis |
|
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... |
ORPHA:137599 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Renal Hypoplasia, Bilateral |
|
Glycosuria, Astigmatism, Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
| Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal cornea... |
ORPHA:411634 |
| Necrotizing Enterocolitis |
|
Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia |
ORPHA:391673 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... |
OMIM:267700 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
| Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:171876 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
| Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
| Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis, Hyponatremia |
ORPHA:178478 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Coloboma, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Calcinosis, Hypokalemia, Cataract, Hyponatremia, Hypocalcemia |
OMIM:617913 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
| Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Astigmatism, Cataract, Hyperglycemia |
OMIM:615986 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,... |
ORPHA:100924 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, H... |
ORPHA:1667 |
| Norrie Disease |
|
Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, Shallow anteri... |
OMIM:310600 |
| Snakebite Envenomation |
|
Hyponatremia |
ORPHA:449285 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hyperkalemia, Type I diabetes mellitus, Hypoglycemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
| Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
| Familial Glucocorticoid Deficiency |
|
Hypoglycemic seizures, Hyperkalemia, Ketotic hypoglycemia, Hyponatremia |
ORPHA:361 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Diabetes mellitus, Astigmatism, Corneal perforation, Rec... |
ORPHA:137596 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Glycosuria, Hypophosphatemia, Decreased plasma carnitine, Hypokalemi... |
OMIM:219800 |
| Mirage Syndrome |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Shigellosis |
|
Conjunctivitis, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Corneal ulceration |
ORPHA:810 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:619381 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... |
OMIM:604367 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia, Hyponatremia |
ORPHA:90791 |
| Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... |
OMIM:603553 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
| Pituitary Apoplexy |
|
Hypoglycemia, Mydriasis, Hyponatremia |
ORPHA:95613 |
| Alg12-Cdg |
|
Hyponatremia, Recurrent hypoglycemia, Retinal detachment, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Whipple Disease |
|
Insulin resistance, Hyponatremia |
ORPHA:3452 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypoglycemia, Hypercalcemia, Hypo... |
ORPHA:95409 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Holoprosencephaly |
|
Optic atrophy, Diabetes mellitus, Hypoglycemia, Iris coloboma, Cyclopia, Chorioretinal coloboma, ... |
ORPHA:2162 |
| Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the... |
OMIM:609049 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, Retinal dysplasia, Re... |
OMIM:614643 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration, Hyperammonemia, Optic neuropat... |
OMIM:610505 |
| Hepatocellular Carcinoma |
|
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Hypoglycemia, Hypercalcemia, Hyponatr... |
ORPHA:88673 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Neo... |
ORPHA:552 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract |
ORPHA:2714 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79473 |
| Addison Disease |
|
Hyperuricemia, Hyperkalemia, Increased circulating renin level, Type I diabetes mellitus, Hypogly... |
ORPHA:85138 |
| Chédiak-Higashi Syndrome |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Increased circulating ferritin concen... |
ORPHA:167 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyperkalemia, Recurrent hypoglycemia, Hyponatremia |
ORPHA:293978 |
| Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca |
ORPHA:411777 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ... |
ORPHA:289548 |
| Sheehan Syndrome |
|
Hypoglycemia, Hyponatremia |
ORPHA:91355 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Adenohypophysitis |
|
Hyponatremia |
ORPHA:95512 |
| Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Hyponatremia, Lentiglobus, Hypokalemia, Hypophosphatemia, Buphthalmos,... |
ORPHA:534 |
| Panhypophysitis |
|
Hyponatremia |
ORPHA:95513 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
| Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Infantile Nephropathic Cystinosis |
|
Glycosuria, Hypokalemia, Hypophosphatemia, Corneal crystals, Abnormal blood ion concentration, Ab... |
ORPHA:411629 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Diabetes mellitus, Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia, Hyponatremia |
ORPHA:275761 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoac... |
ORPHA:2298 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... |
OMIM:615812 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia, Hyperkalemia, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
| Norrie Disease |
|
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Ect... |
ORPHA:649 |
| Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Hyperinsulinemic hypogl... |
OMIM:619991 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia |
ORPHA:90794 |
| Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Increased serum bile acid concentration, Hyponatremia |
ORPHA:731 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:201750 |
| Neuroocular Syndrome |
|
Brushfield spots, Lens coloboma, Microcornea, Remnants of the hyaloid vascular system, Iris colob... |
OMIM:619539 |
| Microphthalmia, Syndromic 2 |
|
Developmental cataract, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system, Reti... |
OMIM:300166 |
| Holoprosencephaly 2 |
|
Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
|
OMIM:614650 |
