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