| Bardet-Biedl Syndrome 16 |
|
Retinal degeneration, Rod-cone dystrophy, Renal agenesis, Abnormality of the kidney, Renal dyspla... |
OMIM:615993 |
| Bardet-Biedl Syndrome 10 |
|
Rod-cone dystrophy, Abnormality of the kidney, Retinal dystrophy, Renal cyst, Renal insufficiency... |
OMIM:615987 |
| Bardet-Biedl Syndrome 11 |
|
Obesity, Hypogonadism, Abnormality of the kidney, Retinopathy |
OMIM:615988 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
| Bardet-Biedl Syndrome 22 |
|
Rod-cone dystrophy, Large for gestational age, Polyphagia, Macular hypopigmentation, Hypogonadism... |
OMIM:617119 |
| Bardet-Biedl Syndrome 12 |
|
Obesity, Abnormality of the kidney, Rod-cone dystrophy, Hypogonadism |
OMIM:615989 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Trunc... |
OMIM:615986 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Retinal dystrophy, Truncal obesity, Micropenis |
OMIM:610156 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Obesity, Attenuation of retinal blood vessels, Rod-cone ... |
OMIM:615990 |
| Bardet-Biedl Syndrome 5 |
|
Macular dystrophy, Rod-cone dystrophy, Micropenis, Hypogonadism, Obesity |
OMIM:615983 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Retinal degeneration, Rod-cone dystrophy, Micropenis, Polyuria, Cone/cone-rod dystrop... |
OMIM:615994 |
| Bardet-Biedl Syndrome 4 |
|
Retinal degeneration, Rod-cone dystrophy, Abnormality of the kidney, Renal cyst, Hypogonadism, Ob... |
OMIM:615982 |
| Leptin Deficiency Or Dysfunction |
|
Micropenis, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity |
OMIM:614962 |
| Bardet-Biedl Syndrome 14 |
|
Obesity, Rod-cone dystrophy |
OMIM:615991 |
| Morm Syndrome |
|
Micropenis, Abnormality of the kidney, Retinal dystrophy, Truncal obesity, Retinal atrophy |
ORPHA:75858 |
| Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Failure to thrive, Ketonuria, Retinopathy, Abnormality of the upper ur... |
ORPHA:99885 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Retinopathy, Moderate albuminuria, Type I diabetes mellitus, Hydronephrosis, ... |
OMIM:619269 |
| Senior-Loken Syndrome 4 |
|
Polydipsia, Rod-cone dystrophy, Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:606996 |
| Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Retinal degeneration,... |
OMIM:275400 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Abnormal autonomic nervous system physiology, Polyphagia, ... |
ORPHA:369873 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
| Bardet-Biedl Syndrome 19 |
|
Obesity, Renal insufficiency, Rod-cone dystrophy, Hypogonadism |
OMIM:615996 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Polyphagia, Obesity |
ORPHA:71529 |
| Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
| Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
| Nephronophthisis 15 |
|
Obesity, Retinal degeneration, Nephronophthisis |
OMIM:614845 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyuria, Polyphagia, Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
| Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:603649 |
| Bardet-Biedl Syndrome 21 |
|
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Hyperauto... |
OMIM:617406 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Polyuria, Pigmentary retinopathy, Type I diabetes mellitus, Proximal tubulopathy |
OMIM:560000 |
| Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
| Bardet-Biedl Syndrome 2 |
|
Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Diabetes mellitus |
OMIM:615981 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction, Cerebral cortical atrophy, Retinal degeneration, Macular d... |
OMIM:604360 |
| Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia, Tall stature |
OMIM:618406 |
| Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
| Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
| Oculorenocerebellar Syndrome |
|
Nephropathy, Retinal degeneration, Glomerular sclerosis |
OMIM:257970 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
| Stargardt Disease 3 |
|
Macular dystrophy, Macular flecks, Macular atrophy |
OMIM:600110 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
| Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Polyphagia, Cystinuria |
ORPHA:163690 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
| Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
| Macrosomia Adiposa Congenita |
|
Large for gestational age, Obesity, Polyphagia, Adrenocortical adenoma |
OMIM:248100 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... |
ORPHA:552 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Orthostati... |
ORPHA:66628 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Macular dystrophy, Abnormal retinal morphology on macular OCT, Brain atrophy, Macroscopic hematur... |
ORPHA:251004 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
| Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypoplasia of penis, Abnormal retinal vascular morph... |
ORPHA:791 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... |
ORPHA:179494 |
| Senior-Loken Syndrome 9 |
|
Rod-cone dystrophy, Nephronophthisis, Macular degeneration, Retinal dystrophy, Tubulointerstitial... |
OMIM:616629 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
| Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Cystinuria, Decreased response to growth hormone stimulation ... |
OMIM:606407 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... |
OMIM:204500 |
| Bardet-Biedl Syndrome 6 |
|
Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy, Renal cyst, Diabetes mellitus, Obesity |
OMIM:605231 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration, Nephronophthisis |
OMIM:613615 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... |
OMIM:614963 |
| Bardet-Biedl Syndrome 8 |
|
Rod-cone dystrophy, Hypospadias, Renal dysplasia, Hypogonadism, Obesity |
OMIM:615985 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Obesity, Peripapillary... |
OMIM:616188 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Optic atrophy, Hypogonadism, Diabetes mellitus, Moderate albuminuria |
OMIM:614231 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
| Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Polyuria, Hypercalciuria, Medullary nephrocalcinosis,... |
OMIM:616963 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Temple Syndrome |
|
Type II diabetes mellitus, Precocious puberty, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
| Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Polyphagia, Insulin resistance, Obesity |
OMIM:617885 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration, Cerebellar atrophy |
OMIM:614322 |
| 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 |
| Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Nephronophthisis 11 |
|
Polydipsia, Retinal degeneration, Nephronophthisis, Renal tubular atrophy, Polyuria, Tubular base... |
OMIM:613550 |
| Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
| Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
| Renal Glucosuria |
|
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna |
OMIM:233100 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy |
OMIM:268010 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity, Delayed puberty |
ORPHA:140941 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Hypogonadism, Hypoplasia of penis, Micropenis |
ORPHA:85274 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Ac... |
ORPHA:54370 |
| Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Cerebral atrophy, Increased extra... |
OMIM:204200 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
| Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Retinopathy, Abnormal chorioretinal morphology, Renal insufficiency, P... |
ORPHA:225 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Diabete... |
OMIM:613845 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Cerebral atrophy, Retinal degeneration |
OMIM:616211 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Increased neuronal a... |
OMIM:256730 |
| Bardet-Biedl Syndrome 3 |
|
Obesity, Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
| X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, S... |
OMIM:619468 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Weight loss, Nephrocalcinosis |
OMIM:143880 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Rod-cone dystrophy, Renal agenesis, Abnormality of the kidney, Retinal dy... |
ORPHA:261222 |
| Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration, Hyperglycemia |
OMIM:520000 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Obesity |
OMIM:614947 |
| Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
| Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Chronic kidney disease, Retinal degeneration, Nephronophthisis, Impaired glu... |
OMIM:615630 |
| Cystinosis, Nephropathic |
|
Polydipsia, Retinal pigment epithelial mottling, Glycosuria, Hematuria, Proteinuria, Weight loss,... |
OMIM:219800 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis |
OMIM:614844 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Polyphagia, Hypogonadotropic hypogonadism |
ORPHA:177910 |
| Galactosemia I |
|
Increased level of galactitol in urine, Failure to thrive, Aminoaciduria, Hypergonadotropic hypog... |
OMIM:230400 |
| Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Retinal dystrophy, ... |
OMIM:266900 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Central Areolar Choroidal Dystrophy |
|
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... |
ORPHA:75377 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
| Cone-Rod Dystrophy 11 |
|
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:610381 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Small pituit... |
ORPHA:398079 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Abnormal retinal vascular morphology, Increased urinary pot... |
OMIM:607364 |
| Bardet-Biedl Syndrome 7 |
|
Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:615984 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Hypergonadotrop... |
ORPHA:3085 |
| Stargardt Disease |
|
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... |
ORPHA:827 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Cerebral atrophy |
OMIM:616521 |
| Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Diabetes mellitus |
OMIM:249270 |
| Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Decreased response to growth hormone stimulation test, Retinal degeneration |
OMIM:225755 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity, Cerebral atrophy, Retinal dystrophy |
OMIM:616756 |
| Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
| Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Retinal degeneration |
OMIM:311000 |
| Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... |
OMIM:618144 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity, Chorioretinal atrophy, Choroideremia, Chorioretinal degeneration |
OMIM:303110 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Goite... |
OMIM:275000 |
| Retinopathy, Pigmentary, And Mental Retardation |
|
Pigmentary retinopathy, Truncal obesity, Hypogonadism |
OMIM:268050 |
| Schaaf-Yang Syndrome |
|
Micropenis, Polyphagia, Hypogonadism, Obesity, Failure to thrive in infancy |
OMIM:615547 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
| Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Cerebellar atrophy, Hypergastrinemia |
OMIM:252650 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity, Nephrocalcinosis, Rod-cone dystrophy |
OMIM:615633 |
| Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Failure to thrive, Renal tubular ... |
OMIM:248250 |
| Alg6-Cdg |
|
Failure to thrive, Retinal degeneration, Rod-cone dystrophy, Puberty and gonadal disorders, Incre... |
ORPHA:79320 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
| Carcinoma Of Esophagus |
|
Dysphagia, Obesity, Weight loss |
ORPHA:70482 |
| Retinitis Pigmentosa 11 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
| Spondylometaphyseal Dysplasia, Axial |
|
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy |
OMIM:602271 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Failure to thrive, Cerebral cortical atrophy, Aminoaciduria, Hypospadias, Pigmentary retinopathy,... |
OMIM:214100 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Retinal coloboma, Obesity, Rod-cone dystrophy, Hypogonadism |
ORPHA:363741 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Cerebellar atrophy |
OMIM:256731 |
| Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Obesity, Rod-cone dystrophy, Hypogonadism |
OMIM:601794 |
| Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Polydipsia, Nephrogenic diabetes insipidus, Aminoac... |
ORPHA:213 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Retinal degeneration, Macular atrophy |
OMIM:267760 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Truncal obesity |
OMIM:618160 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Polyphagia |
OMIM:600274 |
| Cednik Syndrome |
|
Nephrotic syndrome, Optic atrophy, Proteinuria, Hypogonadism, Abnormality of peripheral nerve con... |
ORPHA:66631 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral atrophy, Retinal dystrophy, Obesity, Puberty and gonadal disorders, Urinary incontinence |
ORPHA:464282 |
| 6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia |
ORPHA:171829 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... |
OMIM:618195 |
| Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:615725 |
| Wolfram-Like Syndrome |
|
Glucose intolerance, Abnormality of the upper urinary tract, Optic atrophy, Hypothyroidism, Male ... |
ORPHA:411590 |
| Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Micropenis, Hyp... |
OMIM:300148 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Polyphagia |
ORPHA:411515 |
| Huntington Disease |
|
Cerebral atrophy, Caudate atrophy, Decreased body mass index, Polyphagia, Degeneration of the str... |
ORPHA:399 |
| Mehmo Syndrome |
|
Diabetes mellitus, Obesity, Hypoplasia of penis, Micropenis |
ORPHA:85282 |
| Achromatopsia |
|
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... |
ORPHA:49382 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Membranoproliferative glomerulonephritis, Moderate albuminuria, Type I diabete... |
OMIM:619525 |
| Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Rod-cone dystrophy, Retinal degeneration, C... |
ORPHA:391428 |
| Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Polydipsia, Aminoaciduria, Elevated circulating parathyroid hormone level, Pri... |
OMIM:239200 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal... |
OMIM:602522 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Type II diabetes mellitus, Precocious puberty, Small pituit... |
ORPHA:398069 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
| Cone-Rod Dystrophy 13 |
|
Macular degeneration, Cone/cone-rod dystrophy |
OMIM:608194 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Hypoplasia of penis |
ORPHA:3055 |
| Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Diabetes mellitus |
OMIM:144800 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Papilledema, ... |
ORPHA:54595 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Peripheral retinal atrophy, Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy |
OMIM:615147 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Microphthalmia, Isolated 5 |
|
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... |
OMIM:611040 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Obesity, Enuresis, Failure to thrive in infancy |
OMIM:613670 |
| Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Central diabetes insipidus, Polyuria, Hydronephrosis, Polydipsia |
OMIM:304900 |
| Macular Dystrophy, Vitelliform, 3 |
|
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... |
OMIM:608161 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Micro... |
OMIM:601894 |
| Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
| Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Renal insufficiency, Displacement of the urethral... |
ORPHA:2377 |
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circulating renin level, Hyperaldost... |
OMIM:612780 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal flecks, Retinal pigment epithelial atrophy |
OMIM:611809 |
| Al Amyloidosis |
|
Nephrotic syndrome, Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology,... |
ORPHA:85443 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98754 |
| Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... |
OMIM:619007 |
| Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:608895 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Optic atrophy, Cerebral cortical atrophy, Retinal degeneration |
OMIM:300438 |
| Nephronophthisis 1 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... |
OMIM:256100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98793 |
| Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of the ovary, Hypoplasia of penis, Multicystic kidney dysplasia, P... |
ORPHA:110 |
| Bietti Crystalline Dystrophy |
|
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... |
ORPHA:41751 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, H... |
OMIM:613090 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Diabetes me... |
OMIM:608709 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177904 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level, Proteinuria, Increased bod... |
ORPHA:2298 |
| Preeclampsia |
|
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Increased body mass... |
ORPHA:275555 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177901 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Dysphagia, Proteinuria, Rena... |
OMIM:254900 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
| Retinitis Pigmentosa 80 |
|
Macular atrophy |
OMIM:617781 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Macular Degeneration, Age-Related, 1 |
|
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... |
OMIM:603075 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
| Gitelman Syndrome |
|
Failure to thrive, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Salt craving, Increased circula... |
OMIM:263800 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction, Retinal degeneration, Macular degeneration, Urinary urgenc... |
OMIM:270700 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital stationary night blindness, Congenital hypothyroidism, Cerebral cortical atrophy |
ORPHA:352530 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertaurinemia, Hyper... |
ORPHA:3008 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Dysphagia, Pigmentary retinopathy, Macular degeneration |
OMIM:164500 |
| Retinitis Pigmentosa 19 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:601718 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Prader-Willi-Like Syndrome |
|
Central adrenal insufficiency, Decreased inhibin B level, Occipital cortical atrophy, Abnormality... |
ORPHA:398073 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
| Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
| Trisomy 5P |
|
Obesity, Renal hypoplasia/aplasia, Hypoplasia of penis |
ORPHA:1742 |
| Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
| Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Hematuria, Renal insufficiency, Proteinuria, Glomerulopathy |
ORPHA:375 |
| Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
| Bardet-Biedl Syndrome 1 |
|
Abdominal obesity, Nephrogenic diabetes insipidus, Retinal degeneration, Bone spicule pigmentatio... |
OMIM:209900 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Macular degeneration |
OMIM:612948 |
| Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Hypogonadotropic hypogonadism, Delayed puberty, Hypogonadism, Obesity |
ORPHA:141333 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... |
OMIM:304020 |
| Mental Retardation, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... |
OMIM:615008 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Type II diabetes mellitus |
OMIM:615703 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephronophthisis 4 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... |
OMIM:606966 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atrophy |
OMIM:616171 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Retinitis Pigmentosa 88 |
|
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... |
OMIM:618826 |
| Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
| Retinitis Pigmentosa 73 |
|
Retinal atrophy, Rod-cone dystrophy |
OMIM:616544 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Nephronophthisis 3 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... |
OMIM:604387 |
| Retinitis Pigmentosa 27 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... |
OMIM:613750 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Type II diabetes mellitus, Abnormality of the thyroid gland, Eunuchoid habitus, Hypoplasia of pen... |
ORPHA:2234 |
| Pick Disease Of Brain |
|
Polyphagia, Neuronal loss in central nervous system |
OMIM:172700 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hyp... |
OMIM:613677 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment |
OMIM:619248 |
| Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Optic disc pallor, Retrobulbar optic neuritis, Obesity, Hyperglyc... |
OMIM:619737 |
| Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:611131 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Delayed puberty, Micropenis |
OMIM:301900 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Failure to thrive, Retinal degeneration, Macular scar, Retinopathy, Hypercalci... |
OMIM:239000 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy, Obesity |
OMIM:614651 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy, Abnormal renal physiology |
OMIM:266500 |
| Achromatopsia 7 |
|
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy |
OMIM:616517 |
| Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Obesity, Polyphagia, Nephroblastoma, Proteinuria |
OMIM:612469 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism, Low urinary cy... |
OMIM:603233 |
| Man1B1-Cdg |
|
Polyphagia, Truncal obesity |
ORPHA:397941 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Rod-cone dystrophy, Reduced circulating prolactin concentration, Hypogon... |
ORPHA:2235 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Retinal atrophy, I... |
OMIM:610127 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Angelman Syndrome |
|
Precocious puberty in females, Cerebral cortical atrophy, Delayed menarche, Optic atrophy, Optic ... |
ORPHA:72 |
| Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
| Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Macul... |
OMIM:120330 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia |
OMIM:618426 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Diabetes mellitus, Ob... |
OMIM:610628 |
| Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
| Renal Hypoplasia |
|
Chronic kidney disease, Polydipsia, Small for gestational age, Unilateral renal agenesis, Abnorma... |
ORPHA:93101 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... |
OMIM:606995 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease |
OMIM:161900 |
| Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Nephrotic syndrome, Cerebellar vermis atrophy, Decreased response to growt... |
OMIM:618347 |
| Baralle-Macken Syndrome |
|
Obesity, Global brain atrophy, Urinary incontinence |
OMIM:619255 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Cone-Rod Dystrophy 15 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:613660 |
| Pediatric-Onset Graves Disease |
|
Failure to thrive, Polydipsia, Graves disease, Increased circulating free T3, Increased circulati... |
ORPHA:525731 |
| Oligomeganephronia |
|
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Small for gestational ag... |
ORPHA:2260 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... |
ORPHA:94086 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... |
OMIM:308990 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Glucose intolerance, Failure to thrive, Small for gestational age, Orthostatic hypotension, Polyu... |
OMIM:606721 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Dysuria, Abnormal penis morphology, Hematuria, Moderate albuminuria, Acute kidney injury, Renal t... |
ORPHA:95455 |
| Central Precocious Puberty |
|
Premature thelarche, Isosexual precocious puberty, Overgrowth, Increased body weight, Increased c... |
ORPHA:759 |
| Alport Syndrome |
|
Macular degeneration, Glomerular C3 deposition, Hematuria, Retinal flecks, Thickened glomerular b... |
ORPHA:63 |
| Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Hypogonadism |
ORPHA:261483 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Primary hypothyroidism, Weight loss, Aganglionic megacolon, Centra... |
ORPHA:95427 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Retinal degeneration, Stage 5 chronic kidney disease |
OMIM:613819 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Increa... |
OMIM:615954 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Hypoplasia of penis, Optic nerve hypoplasia, Abnormality of the hypothalamus-pituitar... |
ORPHA:3157 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Failure to thrive, Increased urinar... |
OMIM:601678 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Tall stature, Overgrowth, I... |
OMIM:300942 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Cerebral cortical atrophy, Retinal degeneration, Rod-cone dy... |
ORPHA:166035 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Pigmentary retinopathy, ... |
ORPHA:436271 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Failure to thrive, Polydipsia, Incr... |
OMIM:241200 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... |
ORPHA:79264 |
| Oguchi Disease |
|
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy |
ORPHA:75382 |
| Prader-Willi Syndrome |
|
Abdominal obesity, Adrenal insufficiency, Hyperinsulinemia, Type II diabetes mellitus, Precocious... |
OMIM:176270 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Obesity |
OMIM:264010 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy |
OMIM:180104 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria |
OMIM:239350 |
| 2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Hypoplasia of penis |
ORPHA:228402 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... |
OMIM:616818 |
| Leber Congenital Amaurosis 15 |
|
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor |
OMIM:613843 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Acute kid... |
ORPHA:567544 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Retinal degeneration, Brain atrophy, Cerebral atrophy, Attenuation of retinal blood vessels, Geog... |
OMIM:619260 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Nephritis, Decreased response to growth hormone stimulation test, Hypergonadotr... |
OMIM:203800 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Aceruloplasminemia |
|
Retinal degeneration, Diabetes mellitus |
OMIM:604290 |
| Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Polyuria, Overgrowth, Renal insufficiency, Enuresis, Nephro... |
OMIM:204690 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
| Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... |
ORPHA:739 |
| Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:615573 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Membranoproliferative glomerulonephritis, Type I diabetes mellitus, Proteinuria |
OMIM:619858 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Cerebral cortical atrophy, Frontal cortical atrophy, Retinal degeneration, Abnormality of pattern... |
ORPHA:2822 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Leber Congenital Amaurosis 4 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:604393 |
| 7Q11.23 Microduplication Syndrome |
|
Unilateral renal agenesis, Hypospadias, Polyphagia, Patent ductus arteriosus, Abnormal optic disc... |
ORPHA:96121 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Idiopathic Intracranial Hypertension |
|
Papilledema, Obesity |
ORPHA:238624 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy |
OMIM:212550 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... |
ORPHA:263455 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Uret... |
ORPHA:449395 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Brain atrophy, Cerebral atrophy, Retinal degeneration, Optic atrophy |
ORPHA:442835 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephrotic syndrome, Cerebral cortical atrophy, Nephropathy, Type I diabetes mellitus, Proteinuria |
ORPHA:1192 |
| Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis |
OMIM:617609 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Cerebral atrophy, Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia, Patent ductus arteri... |
ORPHA:171839 |
| Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
| Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
| Joubert Syndrome 6 |
|
Chorioretinal coloboma, Retinal degeneration, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Dysphagia, Cerebellar atrophy, Neurogenic bladder, Macular degeneration |
OMIM:619780 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Overweight, Truncal obesity, Small for gestational age |
OMIM:616222 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Sjogren-Larsson Syndrome |
|
Macular degeneration, Retinal thinning, Retinal pigment epithelial atrophy, Macular crystals, Mac... |
OMIM:270200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Pigmentary retinopathy, ... |
OMIM:220110 |
| Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Optic atrophy, Retinal degeneration |
OMIM:214980 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Recurrent myoglobinuria, Nephrotic syndrome, Rod-cone dystrophy, Hypergonadotropic hypogonadism, ... |
OMIM:607426 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Luscan-Lumish Syndrome |
|
Obesity, Polyphagia, Overgrowth |
OMIM:616831 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
| Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
| Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
| Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
| Helix Syndrome |
|
Nephrolithiasis, Polydipsia, Polyuria, Hypocalciuria, Renal insufficiency, Hyperparathyroidism |
OMIM:617671 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... |
ORPHA:567548 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Multicystic kidney dysplasia, Micropenis |
OMIM:300209 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cranial nerve compression, Hypertensive retinopathy, Elevated urinary dopamine, Paraganglioma of ... |
ORPHA:276621 |
| Leber Congenital Amaurosis 9 |
|
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... |
OMIM:608553 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Chordee, Retinal degeneration, Decreased response to growth hormone stimulation test, Hypospadias... |
ORPHA:96179 |
| Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Myoglobinuria, Pigmen... |
ORPHA:71212 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Abnormality of the kidney, Hypoglycemia, Proteinuria, Delayed puberty |
ORPHA:369 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity, Precocious puberty |
ORPHA:217377 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
| Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia |
ORPHA:682 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Nephrolithiasis, Hyperinsulinemia, Tall stature, Decreased serum leptin, Insulin-resistant diabet... |
OMIM:608594 |
| Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Obesity, Congenital hypothyroidism, Diabetes mellitus |
OMIM:614613 |
| Sjögren-Larsson Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation, Macular degeneration |
ORPHA:816 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Proteinuria, Diabetes mellitu... |
OMIM:616026 |
| Scheie Syndrome |
|
Retinal degeneration |
OMIM:607016 |
| Trisomy 18P |
|
Polyphagia, Facial palsy |
ORPHA:1715 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cranial nerve compression, Hypertensive retinopathy, Elevated urinary dopamine, Paraganglioma of ... |
ORPHA:29072 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
|
