| Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Retinal dystrophy, Renal cyst, Renal insufficiency, Hypogonadism, Rod-... |
OMIM:615987 |
| Bardet-Biedl Syndrome 6 |
|
Retinal dystrophy, Renal cyst, Hypospadias, Diabetes mellitus, Rod-cone dystrophy, Obesity |
OMIM:605231 |
| Bardet-Biedl Syndrome 16 |
|
Abnormality of the kidney, Renal agenesis, Retinal degeneration, Renal dysplasia, Renal cyst, Ren... |
OMIM:615993 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Retinopathy, Abnormality of the kidney, Obesity |
OMIM:615988 |
| Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615995 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Attenuation of retinal blood vessels, Polydipsia, Retinal degeneration, Truncal obesi... |
OMIM:615986 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Abnormality of the kidney, Rod-cone dystrophy, Obesity |
OMIM:615989 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity, Micropenis, Retinal dystrophy |
OMIM:610156 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Bardet-Biedl Syndrome 5 |
|
Obesity, Hypogonadism, Micropenis, Rod-cone dystrophy, Macular dystrophy |
OMIM:615983 |
| Bardet-Biedl Syndrome 13 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... |
OMIM:615990 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Retinal degeneration, Renal cyst, Hypogonadism, Rod-cone dystrophy, Ob... |
OMIM:615982 |
| Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Polyphagia, Abnormal eating behavior, Hypogonadism, Micropenis, Obesity |
OMIM:614962 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia, Rod-cone dystrophy |
OMIM:266900 |
| Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Moderate albuminuria, Ketonuria, Weight loss, Glycosuria, Abnormality ... |
ORPHA:99885 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Type I diabetes mellitus, Hydronephrosis, Retinopathy, Precocious puberty, ... |
OMIM:619269 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Retinal degeneration, Delayed puberty, Small for gestational age, Hypopla... |
OMIM:275400 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Rod-cone dystrophy, Obesity |
OMIM:617119 |
| Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease, Polydipsia, Rod-cone dystrophy |
OMIM:606996 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Polyphagia, Postural hypotension with compensatory tachyca... |
ORPHA:369873 |
| Bardet-Biedl Syndrome 7 |
|
Rod-cone dystrophy, Obesity |
OMIM:615984 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal in... |
ORPHA:71526 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe... |
ORPHA:324575 |
| Wolfram-Like Syndrome, Autosomal Dominant |
|
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance, Optic atrophy |
OMIM:614296 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Hypogonadism, Rod-cone dystrophy, Obesity |
OMIM:615996 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Drusen, Macular degeneration, Choroidal neovascularization |
OMIM:615439 |
| Retinoschisis, Autosomal Dominant |
|
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation |
OMIM:180270 |
| Nephronophthisis 15 |
|
Nephronophthisis, Retinal degeneration, Obesity |
OMIM:614845 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Overweight, Obesity |
OMIM:613375 |
| Stargardt Disease 1 |
|
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa |
OMIM:248200 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Proximal tubulopathy, Polyuria, Type I diabetes mellitus, Failure to thri... |
OMIM:560000 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polyuria, Diabetes mellitus, Hyperglycemia, Polydipsia |
OMIM:222100 |
| Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Cone/cone-rod dystrophy, Renal cyst, Stage 5 chronic kidney disease, Hypogo... |
OMIM:615994 |
| Cone-Rod Dystrophy 7 |
|
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy |
OMIM:603649 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Abnormal oral glucose tolerance, Maternal diabetes, ... |
ORPHA:276580 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Bardet-Biedl Syndrome 21 |
|
Retinal atrophy, Overweight, Horseshoe kidney, Retinal thinning, Cone/cone-rod dystrophy, Hyperau... |
OMIM:617406 |
| Exudative Vitreoretinopathy 7 |
|
Retinal hole, Vitreoretinopathy, Retinal degeneration |
OMIM:617572 |
| Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Perifoveal ring of hyperautofluorescence, Granular macular ap... |
OMIM:608051 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Tall stature, Obesity |
OMIM:618406 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Urinary bladder sphincter dysfunction, Dysphagi... |
OMIM:604360 |
| Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating insu... |
ORPHA:293964 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Retinal degeneration |
OMIM:257970 |
| Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Hypogonadism, Diabetes mellitus, Rod-cone dystrophy, Obesity |
OMIM:615981 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Generalized aminoaciduria, Peripheral retinal atrophy, Abnormality of macular pigmentation, Druse... |
OMIM:136550 |
| Retinitis Pigmentosa 36 |
|
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... |
OMIM:610599 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... |
OMIM:312700 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pol... |
ORPHA:276575 |
| Leber Congenital Amaurosis 19 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration |
OMIM:618513 |
| Stargardt Disease 3 |
|
Macular atrophy, Macular flecks, Macular dystrophy |
OMIM:600110 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Nephrolithiasis, Failure to thrive, Cystinuria |
ORPHA:163690 |
| Liberfarb Syndrome |
|
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
| Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Polyphagia, Hypergonadotropic hypogonadism, Cystinuria, Facial palsy, Fail... |
OMIM:606407 |
| Macular Dystrophy, Vitelliform, 2 |
|
Subretinal fluid, Cystoid macular degeneration, Macular dystrophy |
OMIM:153700 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Adrenocortical adenoma, Polyphagia, Obesity |
OMIM:248100 |
| Ceroid Lipofuscinosis, Neuronal, 6 |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration |
OMIM:601780 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Obesity, Adrenal ... |
OMIM:609734 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal retinal vascular morphology, Type... |
ORPHA:791 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Enlarged kidney, Proteinuria, Abnormal retinal morphology on macular OCT, Brain atrop... |
ORPHA:251004 |
| Senior-Loken Syndrome 9 |
|
Nephronophthisis, Retinal dystrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease... |
OMIM:616629 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperp... |
ORPHA:276556 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, P... |
ORPHA:66628 |
| Mody |
|
Abnormal oral glucose tolerance, Abnormality of the kidney, Hyperinsulinemic hypoglycemia, Overwe... |
ORPHA:552 |
| Leptin Receptor Deficiency |
|
Polyphagia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesity, Abnormal eating be... |
OMIM:614963 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Increased extraneuronal autoflu... |
OMIM:204500 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum leptin, Hyperinsulinemia, Orthostatic hypotension due to autonomic dysfunction, P... |
ORPHA:179494 |
| Macular Dystrophy, Retinal, 3 |
|
Retinal pigment epithelial atrophy, Macular drusen |
OMIM:608850 |
| Senior-Loken Syndrome 7 |
|
Nephronophthisis, Retinal degeneration |
OMIM:613615 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Polyuria, Hypercalciuria, Failure to thrive, Medullary nephrocalcinosis,... |
OMIM:616963 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Hypogonadism, Diabetes mellitus, Moderate albuminuria, Optic atrophy |
OMIM:614231 |
| Late-Onset Retinal Degeneration |
|
Retinopathy, Rod-cone dystrophy, Retinal degeneration, Sub-RPE deposits |
OMIM:605670 |
| Temple Syndrome |
|
Polyphagia, Decreased response to growth hormone stimuation test, Small for gestational age, Type... |
ORPHA:254516 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy,... |
OMIM:616188 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Optic atrophy, Retinal degeneration |
OMIM:614322 |
| Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Retinitis, Retinal pigment epithelial mottling, Retinal pigment epithelia... |
ORPHA:85128 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
| Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy |
OMIM:609923 |
| Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
| Bardet-Biedl Syndrome 8 |
|
Renal dysplasia, Hypospadias, Hypogonadism, Rod-cone dystrophy, Obesity |
OMIM:615985 |
| Nephronophthisis 11 |
|
Nephronophthisis, Polyuria, Retinal degeneration, Renal tubular atrophy, Renal corticomedullary c... |
OMIM:613550 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Renal Glucosuria |
|
Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia |
OMIM:233100 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 |
ORPHA:140941 |
| Retinitis Pigmentosa 71 |
|
Attenuation of retinal blood vessels, Drusen, Rod-cone dystrophy, Optic disc pallor, Obesity |
OMIM:616394 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Micropenis, Hypoplasia of penis, Obesity |
ORPHA:85274 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Retinal degeneration, Cerebellar atrophy, Failure to thrive, Optic atrophy, Nephrol... |
OMIM:618329 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor, Peripheral retinal degeneration |
OMIM:609021 |
| Maternally-Inherited Diabetes And Deafness |
|
Abnormal chorioretinal morphology, Proteinuria, Glomerulopathy, Type II diabetes mellitus, Renal ... |
ORPHA:225 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Pigmentary retinopathy, Attenuation of retinal blood ves... |
OMIM:609913 |
| Primary Membranoproliferative Glomerulonephritis |
|
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... |
ORPHA:54370 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine |
OMIM:300539 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal dystrophy,... |
OMIM:180210 |
| Insulinoma |
|
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gland, Pitui... |
ORPHA:97279 |
| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| X-Linked Acrogigantism |
|
Abnormal oral glucose tolerance, Increased serum insulin-like growth factor 1, Abnormality of the... |
ORPHA:300373 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Weight loss, Hypercalciuria, Failure to thrive, Nephrocalcinosis, Nephrolithiasis |
OMIM:143880 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Neonatal hypoglycemia |
OMIM:240900 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Galactosemia I |
|
Albuminuria, Hypergonadotropic hypogonadism, Aminoaciduria, Increased level of galactitol in urin... |
OMIM:230400 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity |
OMIM:613886 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Polyuria, Renal salt wasting, Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, ... |
OMIM:613845 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration, Cerebral atrophy |
OMIM:616211 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Cerebral atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Optic atr... |
OMIM:256730 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Retinal dystrophy, Vesicoureteral ... |
ORPHA:261222 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia, Obesity |
ORPHA:177910 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration |
OMIM:520000 |
| Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... |
OMIM:143200 |
| Cystinosis, Nephropathic |
|
Male hypogonadism, Retinal pigment epithelial mottling, Failure to thrive in infancy, Delayed pub... |
OMIM:219800 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Nephronophthisis, Glucose intolerance, Impaired glucose tolerance, Retinal degeneration, Chronic ... |
OMIM:615630 |
| Bartter Syndrome, Type 3 |
|
Hypocalciuria, Renal potassium wasting, Hyperactive renin-angiotensin system, Polyuria, Hyperaldo... |
OMIM:607364 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Retinal degeneration |
OMIM:614844 |
| Growth Hormone Insensitivity Syndrome |
|
Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitus, Failure to thrive, ... |
ORPHA:181393 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Retinal degeneration, Decreased response to growth hormone stimuation test |
OMIM:225755 |
| Retinitis Pigmentosa 13 |
|
Hypopigmentation of the fundus, Cystoid macular edema, Rod-cone dystrophy, Retinal degeneration |
OMIM:600059 |
| Cone-Rod Dystrophy 11 |
|
Macular atrophy, Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular degeneration |
OMIM:610381 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, ... |
ORPHA:398079 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy, Obesity |
OMIM:600151 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hyperinsulinemia, Hypergonadotropic hypogonadism, Cerebellar... |
ORPHA:3085 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Perifoveal ring of hyperautofluorescence, Foveal photoreceptor outer segment los... |
ORPHA:75377 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal degeneration |
OMIM:615922 |
| Stargardt Disease |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Abnormal foveal morpholo... |
ORPHA:827 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Obesity |
OMIM:614947 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Diabetes mellitus |
OMIM:249270 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Macular atrophy, Optic atrophy, Cranial nerve compression |
OMIM:250450 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Macular degeneration, Cone dystrophy |
OMIM:600977 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Retinal atrophy, Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopig... |
OMIM:610127 |
| Chromosome Xq21 Deletion Syndrome |
|
Chorioretinal degeneration, Chorioretinal atrophy, Choroideremia, Obesity |
OMIM:303110 |
| Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
| C3 Glomerulopathy |
|
Central serous chorioretinopathy, Hematuria, Acute kidney injury, Yellow/white lesions of the ret... |
ORPHA:329918 |
| Schaaf-Yang Syndrome |
|
Polyphagia, Failure to thrive in infancy, Hypogonadism, Micropenis, Obesity |
OMIM:615547 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Cerebral atrophy, Retinal dystrophy, Obesity |
OMIM:616756 |
| Hypomagnesemia 3, Renal |
|
Hypocitraturia, Renal calcium wasting, Hematuria, Polydipsia, Polyuria, Recurrent urinary tract i... |
OMIM:248250 |
| Retinitis Pigmentosa 33 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... |
OMIM:610359 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Rod-cone dystrophy, Obesity |
OMIM:615633 |
| Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal degeneration, Hyperautofluoresc... |
OMIM:618144 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Truncal obesity, Hypogonadism, Pigmentary retinopathy |
OMIM:268050 |
| Mucolipidosis Iv |
|
Cerebellar atrophy, Optic atrophy, Hypergastrinemia, Retinal degeneration |
OMIM:252650 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Retinitis Pigmentosa 38 |
|
Macular atrophy, Peripheral retinal atrophy, Rod-cone dystrophy, Optic disc pallor |
OMIM:613862 |
| Frontotemporal Dementia |
|
Polyphagia, Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Retinitis Pigmentosa 11 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluorescenc... |
OMIM:600138 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Adrenal hypoplasia, Albuminuria, Pigmentary retinopathy, Patent ductus arteriosus, Aminoaciduria,... |
OMIM:214100 |
| Mehmo Syndrome |
|
Male hypogonadism, Decreased response to growth hormone stimuation test, Hypoglycemia, Delayed pu... |
OMIM:300148 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity |
ORPHA:171829 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Retinal degeneration |
OMIM:256731 |
| Papillorenal Syndrome |
|
Horseshoe kidney, Renal malrotation, Retinal coloboma, Renal hypoplasia, Chorioretinal atrophy, M... |
OMIM:120330 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity |
ORPHA:363741 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Isolated Growth Hormone Deficiency, Type V |
|
Abdominal obesity, Truncal obesity, Decreased response to growth hormone stimuation test |
OMIM:618160 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Hypogonadism, Rod-cone dystrophy, Obesity |
OMIM:601794 |
| Carcinoma Of Esophagus |
|
Dysphagia, Weight loss, Obesity |
ORPHA:70482 |
| Cednik Syndrome |
|
Nephrotic syndrome, Abnormality of peripheral nerve conduction, Hypogonadism, Optic atrophy, Prot... |
ORPHA:66631 |
| Wolfram-Like Syndrome |
|
Male hypogonadism, Glucose intolerance, Hypothyroidism, Delayed puberty, Optic atrophy, Diabetes ... |
ORPHA:411590 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Hsd10 Disease, Infantile Type |
|
Dysphagia, Cerebral atrophy, Neurodegeneration, Hypoglycemia, Retinal degeneration, Frontotempora... |
ORPHA:391428 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Obesity |
ORPHA:411515 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Macular atrophy, Cystoid macular degeneration, Retinal degeneration |
OMIM:267760 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Macular degeneration, Peripapillary atrophy, Abnormal flash visual evoked potentials, Optic disc ... |
OMIM:618195 |
| Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria, Primary hyperparathyroidism, Failure ... |
OMIM:239200 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Cerebral atrophy, Retinal dystrophy, Urinary incontinence, Obesity |
ORPHA:464282 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Hyperaldoster... |
OMIM:602522 |
| Huntington Disease |
|
Choking episodes, Decreased body mass index, Polyphagia, Cerebral atrophy, Weight loss, Oral-phar... |
ORPHA:399 |
| Cystinosis |
|
Nephrogenic diabetes insipidus, Hypothyroidism, Aminoaciduria, Nephropathy, Delayed puberty, Type... |
ORPHA:213 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Polyphagia, Premature pubarche, Central hypothyroidism, Hypothalamic luteinizi... |
ORPHA:398069 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Increased neuronal autoflu... |
OMIM:204200 |
| Craniopharyngioma |
|
Polyphagia, Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism, Central adrenal insu... |
ORPHA:54595 |
| Mehmo Syndrome |
|
Diabetes mellitus, Micropenis, Hypoplasia of penis, Obesity |
ORPHA:85282 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Achromatopsia |
|
Abnormal macular morphology, Absent foveal reflex, Attenuation of retinal blood vessels, Retinal ... |
ORPHA:49382 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Mental Retardation, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... |
OMIM:137950 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
| Diabetes Insipidus, Neurohypophyseal Type |
|
Polydipsia, Central diabetes insipidus, Polyuria, Hydronephrosis |
OMIM:304900 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Retinal dystrophy |
OMIM:615147 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Macular Dystrophy, Vitelliform, 3 |
|
Macular atrophy, Vitelliform-like macular lesions, Choroidal neovascularization, Drusen, Macular ... |
OMIM:608161 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter, Polyphagia, Weight loss |
OMIM:275000 |
| Hyperostosis Frontalis Interna |
|
Diabetes mellitus, Increased circulating prolactin concentration, Obesity |
OMIM:144800 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Hyperaldosteronism, Increased circula... |
OMIM:612780 |
| Microphthalmia, Isolated 5 |
|
Optic disc drusen, Rod-cone dystrophy, Retinal pigment epithelial atrophy, Cystoid macular edema,... |
OMIM:611040 |
| Neuroleptic Malignant Syndrome |
|
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
| Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral... |
ORPHA:2377 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Obesity |
ORPHA:3055 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Diabetes mellitus, Prote... |
OMIM:608709 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
| Hsd10 Mitochondrial Disease |
|
Cerebral cortical atrophy, Optic atrophy, Hypoglycemia, Retinal degeneration |
OMIM:300438 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration |
|
Drusen, Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity |
OMIM:608895 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
| Preeclampsia |
|
Acute kidney injury, Type I diabetes mellitus, Small for gestational age, Chronic kidney disease,... |
ORPHA:275555 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypernatriuria, Polyuria, Increased urinary potassium, Hyperaldosteronism, Decreased glomerular f... |
OMIM:613090 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Occipital cortical atrophy, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circu... |
ORPHA:98754 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Enuresis, Failure to thrive in infancy, Obesity |
OMIM:613670 |
| Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... |
ORPHA:3008 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Occipital cortical atrophy, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circu... |
ORPHA:98793 |
| Nephronophthisis 1 |
|
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... |
OMIM:256100 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:619007 |
| Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Occipital cortical atrophy, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circu... |
ORPHA:177904 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Dysphagia, Nephropathy, Glomerulopathy, Cerebellar atrophy, N... |
OMIM:254900 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Occipital cortical atrophy, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circu... |
ORPHA:177901 |
| Bardet-Biedl Syndrome |
|
Pigmentary retinopathy, Multicystic kidney dysplasia, Nephrotic syndrome, Hypogonadism, Hypoplasi... |
ORPHA:110 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche, Obesity |
OMIM:614662 |
| Gitelman Syndrome |
|
Hypocalciuria, Nocturia, Renal potassium wasting, Polyuria, Enuresis, Increased circulating renin... |
OMIM:263800 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemic hypoglycemia, Weight loss, Type II diabetes mellitus, Insulin resistance, Abnorm... |
ORPHA:2298 |
| Al Amyloidosis |
|
Albuminuria, Postural hypotension with compensatory tachycardia, Autonomic erectile dysfunction, ... |
ORPHA:85443 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction, Retinal degeneration, Urinary incontinence, Urinary urgenc... |
OMIM:270700 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Macula... |
OMIM:603075 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Spinocerebellar Ataxia 7 |
|
Dysphagia, Optic atrophy, Macular degeneration, Pigmentary retinopathy |
OMIM:164500 |
| Biemond Syndrome Type 2 |
|
Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism, Obesity |
ORPHA:141333 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the kidney, Nephrogenic diabetes insipidus, Aganglionic megacolon, Retinal degener... |
OMIM:209900 |
| Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... |
OMIM:618176 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... |
OMIM:619201 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Cerebral cortical atrophy, Congenital hypothyroidism, Congenital stationary night blindness, Obesity |
ORPHA:352530 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Retinal detachment, Renal insufficiency, Proteinuria |
ORPHA:375 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Optic atrophy, Cachexia, Proteinuria |
OMIM:610965 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Prader-Willi-Like Syndrome |
|
Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gonadotropin concen... |
ORPHA:398073 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... |
OMIM:300942 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... |
OMIM:603965 |
| Retinitis Pigmentosa 19 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Bone spicule pigmentati... |
OMIM:601718 |
| Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Type II diabetes mellitus, Obesity |
OMIM:615703 |
| Trisomy 5P |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Obesity |
ORPHA:1742 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, R... |
ORPHA:730 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Cone-Rod Dystrophy 16 |
|
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... |
OMIM:614500 |
| Nephrotic Syndrome, Type 20 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:616032 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Nephrotic Syndrome, Type 7 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
| Rafiq Syndrome |
|
Obesity |
OMIM:614202 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
| Nephrotic Syndrome, Type 19 |
|
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... |
OMIM:618178 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Optic atrophy, Retinopathy, Optic disc pallor |
OMIM:616171 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... |
OMIM:616002 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Lattice retinal degeneration, Retinal detachment |
OMIM:150500 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Polyuria, Hyperaldosteronism, Hypercalciuria, Decreased circulating renin level, Adre... |
OMIM:613677 |
| Nephronophthisis 4 |
|
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... |
OMIM:606966 |
| Pick Disease Of Brain |
|
Polyphagia, Neuronal loss in central nervous system |
OMIM:172700 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy, Absence of secondary sex characteristics, Obesity, Hy... |
ORPHA:2235 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
| Retinitis Pigmentosa 88 |
|
Attenuation of retinal blood vessels, Cystoid macular edema, Bone spicule pigmentation of the ret... |
OMIM:618826 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the thyroid gland, Type II diabetes mellitus, Hypoplasia of penis, Hypogonadism, E... |
ORPHA:2234 |
| Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Macular edema, Rod-c... |
OMIM:613750 |
| Nephronophthisis 3 |
|
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... |
OMIM:604387 |
| Hernández-Aguirre Negrete Syndrome |
|
Delayed puberty, Obesity |
ORPHA:2139 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... |
OMIM:256020 |
| Cone Dystrophy 3 |
|
Macular atrophy, Cone/cone-rod dystrophy |
OMIM:602093 |
| Achromatopsia 7 |
|
Macular atrophy, Hypoplasia of the fovea, Absent foveal reflex |
OMIM:616517 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Diabetes mellitus, Micropenis, Obesity |
OMIM:610628 |
| Refsum Disease, Classic |
|
Abnormal renal physiology, Rod-cone dystrophy, Retinal degeneration |
OMIM:266500 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Delayed puberty, Micropenis, Obesity |
OMIM:301900 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
| Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism |
|
Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemia, Decreased cir... |
OMIM:619326 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Central Retinal Vein Occlusion |
|
Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Retinal vascular... |
ORPHA:411527 |
| Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... |
ORPHA:93101 |
| Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration, Elevated circula... |
OMIM:603233 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Truncal obesity, Failure to thrive, Diabetes mellitus, Nephroli... |
ORPHA:189427 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... |
ORPHA:976 |
| Alport Syndrome |
|
Hematuria, IgA deposition in the glomerulus, Renal insufficiency, Renal glomerular foam cells, Re... |
ORPHA:63 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Nephrocalcinosis, Hyposthenuria, Low-molecular-weight proteinuria, Focal segmental glomeruloscler... |
OMIM:308990 |
| Prader-Willi Syndrome |
|
Hyperinsulinemia, Polyphagia, Failure to thrive in infancy, Obesity, Adrenal insufficiency, Delay... |
OMIM:176270 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy, Obesity |
OMIM:614651 |
| Angelman Syndrome |
|
Polyphagia, Delayed menarche, Dysphagia, Cerebral cortical atrophy, Precocious puberty in females... |
ORPHA:72 |
| Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria |
OMIM:161900 |
| Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... |
ORPHA:525731 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Retinal degeneration |
OMIM:613819 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Nephrocalcinosis, Hyperphosphaturia, Aminoaciduria, Hypoglycemia, Glycosuria, Diabetes mellitus, ... |
OMIM:616026 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas... |
OMIM:606995 |
| Baralle-Macken Syndrome |
|
Urinary incontinence, Global brain atrophy, Obesity |
OMIM:619255 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Hyperphosphaturia, Aminoaciduria, Glycosuria, Failure to thrive, Renal Fa... |
OMIM:220110 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Dysuria, Hematuria, Acute kidney injury, Abnormal penis morphology, Renal tubular epithelial necr... |
ORPHA:95455 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... |
OMIM:614131 |
| Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimuation test, Decreased body weight, Cere... |
OMIM:618347 |
| Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Rod-cone dystrophy |
OMIM:613660 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Hyperphosphaturia, Aminoaciduria, Glycosuria, Failure to thrive, Renal Fa... |
ORPHA:436271 |
| Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Septo-optic dysplasia, ... |
ORPHA:3157 |
| Central Precocious Puberty |
|
Increased circulating gonadotropin level, Overgrowth, Isosexual precocious puberty, Increased bod... |
ORPHA:759 |
| Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Hypogonadism, Failure to thrive |
ORPHA:261483 |
| Secondary Short Bowel Syndrome |
|
Polyphagia, Central hypothyroidism, Aganglionic megacolon, Weight loss, Failure to thrive, Primar... |
ORPHA:95427 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity |
OMIM:264010 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria |
OMIM:613944 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
| Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning |
OMIM:270200 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyposthenuria, Renal potassium wasting, Hyperactive renin-angiotensin system, Polyuria, Hyperaldo... |
OMIM:601678 |
| Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:607832 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Generalized distal tubular acidosis, Glomerulopathy, Microscopic hematuria, Renal cell carcinoma,... |
OMIM:601894 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Dysphagia, Cerebral atrophy, Retinal degeneration, Cerebellar atrophy, Op... |
ORPHA:79264 |
| Chops Syndrome |
|
Horseshoe kidney, Patent ductus arteriosus, Vesicoureteral reflux, Optic atrophy, Obesity |
OMIM:616368 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
| Oguchi Disease |
|
Rod-cone dystrophy, Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness |
ORPHA:75382 |
| Aceruloplasminemia |
|
Diabetes mellitus, Retinal degeneration |
OMIM:604290 |
| Alstrom Syndrome |
|
Renal insufficiency, Hyperinsulinemia, Multinodular goiter, Pigmentary retinopathy, Hypergonadotr... |
OMIM:203800 |
| Leber Congenital Amaurosis 15 |
|
Pigmentary retinopathy, Retinal degeneration, Retinopathy, Rod-cone dystrophy, Optic disc pallor |
OMIM:613843 |
| Abcd Syndrome |
|
Hypopigmentation of the fundus, Large for gestational age, Aganglionic megacolon, Abnormal audito... |
OMIM:600501 |
| Werner Syndrome |
|
Hypogonadism, Diabetes mellitus, Retinal degeneration |
OMIM:277700 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyposthenuria, Polydipsia, Renal potassium wasting, Hyperactive renin-angiotensin system, Polyuri... |
OMIM:241200 |
| Oligomeganephronia |
|
Decreased numbers of nephrons, Optic disc coloboma, Unilateral renal agenesis, Abnormality of med... |
ORPHA:2260 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy |
ORPHA:75373 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercellu... |
OMIM:616818 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Glomerulonephritis, Microscopic he... |
ORPHA:567544 |
| Retinitis Pigmentosa 9 |
|
Macular atrophy, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:180104 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria |
OMIM:239350 |
| 7Q11.23 Microduplication Syndrome |
|
Polyphagia, Unilateral renal agenesis, Enuresis, Patent ductus arteriosus, Hydronephrosis, Abnorm... |
ORPHA:96121 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Orthostatic hypotension, Frontal cortical atrophy, Dysphagia, Atrophy of the spinal c... |
ORPHA:2822 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Retinal degeneration, Abnormality of pattern visual evoked potentials, Cerebral... |
ORPHA:166035 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Hydroxyprolinuria, Retinal degeneration, Angioid streaks of the fundus, Retinopathy |
OMIM:239000 |
| Prader-Willi Syndrome |
|
Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gla... |
ORPHA:739 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia |
OMIM:214700 |
| Joubert Syndrome 6 |
|
Chorioretinal coloboma, Nephronophthisis, Retinal degeneration, Stage 5 chronic kidney disease |
OMIM:610688 |
| Igg4-Related Kidney Disease |
|
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Abnormality of the anterior pi... |
ORPHA:449395 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
| Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy |
OMIM:212550 |
| Leber Congenital Amaurosis 4 |
|
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:604393 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Neonatal hypoglycemia, Hyp... |
ORPHA:263455 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:615573 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... |
ORPHA:276608 |
| 2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Hypoplasia of penis |
ORPHA:228402 |
| Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity |
ORPHA:238624 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Renal hypoplasia, Cerebral atrophy, Patent ductus arteriosus, Hypospadias, Microp... |
ORPHA:171839 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Cerebral cortical atrophy, Type I diabetes mellitus, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Elevated urinary norepinephr... |
ORPHA:276621 |
| Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
| Helix Syndrome |
|
Hyperparathyroidism, Hypocalciuria, Polyuria, Renal insufficiency, Polydipsia, Nephrolithiasis |
OMIM:617671 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... |
OMIM:310468 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Luscan-Lumish Syndrome |
|
Overgrowth, Polyphagia, Obesity |
OMIM:616831 |
| Pseudohypoparathyroidism Type 1C |
|
Polyphagia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Low urinary cyclic AMP resp... |
ORPHA:79444 |
| Temple Syndrome |
|
Truncal obesity, Maturity-onset diabetes of the young, Overweight, Small for gestational age |
OMIM:616222 |
| Poretti-Boltshauser Syndrome |
|
Retinal atrophy, Retinal thinning, Retinal dystrophy |
OMIM:615960 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome |
OMIM:617006 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Cerebral atrophy, Retinal degeneration, Brain atrophy, Failure to thrive, Optic atrophy |
ORPHA:442835 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia |
ORPHA:682 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... |
ORPHA:567548 |
| Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:617609 |
| Cubitus Valgus With Mental Retardation And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Macular atrophy, Attenuation of retinal blood vessels, Cerebral atrophy, Retinal degeneration, Br... |
OMIM:619260 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Pigmentary retinopat... |
ORPHA:71212 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... |
OMIM:611555 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615558 |
| Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Polyuria, Enuresis, Overgrowth, Renal insufficiency, Nephro... |
OMIM:204690 |
| Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:600995 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Chordee, Hypothyroidism, Retinal degeneration, Renal dysplasia, Hypospadias, Renal insufficiency,... |
ORPHA:96179 |
| Cone-Rod Dystrophy 21 |
|
Macular atrophy, Retinal dystrophy |
OMIM:616502 |
| Sjögren-Larsson Syndrome |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:816 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Micropenis, Obesity |
OMIM:300209 |
| Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Glomerular sclerosis, Renal tubular atrophy, Small for gestational age, Renal ins... |
OMIM:256300 |
| Adrenocortical Carcinoma |
|
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... |
ORPHA:1501 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Congenital hypothyroidism, Diabetes mellitus, Obesity |
OMIM:614613 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Insulin resistance, Abdominal obesity |
OMIM:615980 |
| Insulinomatosis And Diabetes Mellitus |
|
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... |
OMIM:147630 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Retinal capillary hemangioma... |
ORPHA:29072 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy, Corpus callosum atrophy, Hypothyroidism, Dysphagia, Parietal cortical atrophy, C... |
ORPHA:412057 |
| Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Glomerulopathy, Proteinuria, Insulin resistance |
ORPHA:79087 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
| Retinitis Pigmentosa 84 |
|
Macular atrophy, Rod-cone dystrophy, Macular coloboma |
OMIM:618220 |
| Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
| Trisomy 18P |
|
Facial palsy, Polyphagia |
ORPHA:1715 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hypoglycemia, Delayed puberty, Failure to thrive, Abnormality of the kidney, Proteinuria |
ORPHA:369 |
| Galloway-Mowat Syndrome 8 |
|
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... |
OMIM:618349 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Obesity |
ORPHA:1035 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polyphagia, Premature adrenarche, Polydipsia, Central hypothyroidism, Decreased response to growt... |
ORPHA:293987 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Tall stature, Insulin-resistant diabetes me... |
OMIM:608594 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Glomerular sclerosis, Cerebral atrophy, Cerebellar atrophy, Stage 5 chronic kidney disease, Nephr... |
OMIM:301006 |
| Nephronophthisis 13 |
|
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Retinal dystrophy, Stage 5 chronic kidney d... |
OMIM:614377 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:614455 |
| Cyst |
