| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... |
ORPHA:93101 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Gilles De La Tourette Syndrome |
|
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... |
OMIM:137580 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... |
ORPHA:2260 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... |
OMIM:143400 |
| Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ureteral atresia, Patent d... |
OMIM:618845 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur... |
OMIM:612925 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
| Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612926 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria |
OMIM:267430 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Proteinuria, Hematuria, Hemolytic-uremic syndrome |
OMIM:612924 |
| Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux |
ORPHA:2512 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Patent ductus arteriosus |
OMIM:617661 |
| Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr... |
OMIM:614377 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Redundant neck skin, Neonatal death, Renal ... |
OMIM:236500 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis |
OMIM:219050 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Cataract |
ORPHA:75858 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis, Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618504 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Hydranencephaly |
OMIM:601355 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Renal hypoplasia, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Spina b... |
OMIM:620439 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Renal insufficiency |
ORPHA:281090 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Purpura, Anuria, Hemolytic-uremic syndrome |
OMIM:235400 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Autoimmune Hypoparathyroidism |
|
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz... |
ORPHA:36913 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Patent ductus arteriosus |
OMIM:615996 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria |
OMIM:606996 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy |
ORPHA:3306 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... |
ORPHA:340 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy |
OMIM:239500 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... |
ORPHA:1475 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Renal agenesis |
OMIM:601076 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder |
OMIM:619504 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... |
OMIM:619468 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... |
OMIM:620150 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... |
OMIM:614922 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor, Anorexia |
ORPHA:79283 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Hyperactivity |
ORPHA:85288 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal hypoplasia, Renal agenesis, Umbilical hernia, Micropenis, Hypospadias, Patent ductus arteri... |
ORPHA:171839 |
| Bresek Syndrome |
|
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Renal dysplasia |
ORPHA:85284 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Micropenis, Unilateral renal agenesis, Crossed fused renal ectopia, Patent ductus arteriosus |
OMIM:618142 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Attention deficit hyperactivity disorder, Patent ductu... |
OMIM:609757 |
| Pseudohypoparathyroidism Type 1B |
|
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz... |
ORPHA:94089 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Distal renal tubular acidosis, Pallor, Anorexia, Isothenuria |
OMIM:611590 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Renal hypoplasia, Death in childhood, 3-Methylglutaconic aciduria, Lacticaciduria |
OMIM:604273 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias |
OMIM:600057 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Nephronophthisis 9 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts |
OMIM:613824 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy |
OMIM:601389 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Patent ductus arteriosus, F... |
OMIM:619351 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Fliedner-Zweier Syndrome |
|
Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Hydronephrosis,... |
OMIM:620511 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity, Compulsive beha... |
OMIM:619927 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:244200 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia |
OMIM:617113 |
| Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
| Distal Duplication 6P |
|
Hydronephrosis, Dry skin, Renal hypoplasia, Abnormality of the urinary system |
ORPHA:1745 |
| Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... |
OMIM:604387 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria |
OMIM:610205 |
| Even-Plus Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections |
OMIM:616854 |
| Beaulieu-Boycott-Innes Syndrome |
|
Horseshoe kidney, Unilateral renal agenesis, Patent ductus arteriosus, Recurrent urinary tract in... |
OMIM:613680 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Striae distensae, Unilateral renal agenesis, Vesicoureteral reflux |
OMIM:606408 |
| Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia |
OMIM:608572 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Attention ... |
OMIM:617914 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia, Dysphagia |
OMIM:618494 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:256100 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Dry skin, Death in infan... |
OMIM:614576 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Nephronophthisis 4 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... |
OMIM:606966 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
| Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Stillbirth |
OMIM:276950 |
| Hadziselimovic Syndrome |
|
Renal hypoplasia |
OMIM:612946 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Oliguria, Anuria, Pallor, Decreased urine output, Nephrotic range proteinuria |
ORPHA:544482 |
| Phenylketonuria |
|
Cataract, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Materna... |
OMIM:261600 |
| Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia |
OMIM:617926 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:2256 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:616963 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Dermal translucency, Unilateral renal agenesis, Cutis laxa, Premature skin wrinkling |
OMIM:616603 |
| Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca, Neonatal death |
OMIM:615709 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Self-injurious behavior, Renal hypoplasia, Umbilical hernia, Aggressive behavior, Motor stereotyp... |
OMIM:618914 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia, Polydipsia |
OMIM:617994 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait |
OMIM:301107 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... |
ORPHA:84081 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo... |
OMIM:614376 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Skin ulcer, Oliguria, Renal insufficiency, Dysphagia |
ORPHA:220393 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Ectopic kidney, Renal agenesis |
OMIM:212780 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... |
OMIM:216360 |
| Lassa Fever |
|
Oliguria, Dysphagia, Miscarriage |
ORPHA:99824 |
| Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia |
OMIM:266810 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Branch... |
OMIM:113650 |
| Dystonia 31 |
|
Dysphagia, Abnormal posturing |
OMIM:619565 |
| Hartnup Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia |
OMIM:234500 |
| Braddock Syndrome |
|
Unilateral renal agenesis |
ORPHA:52047 |
| Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis |
OMIM:616362 |
| Verheij Syndrome |
|
Renal cyst, Renal hypoplasia, Branchial cyst, Renal agenesis |
OMIM:615583 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Polyuria |
OMIM:222100 |
| Fanconi Anemia, Complementation Group I |
|
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Pallor, Abnormal renal morphology |
OMIM:609053 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Mannosidosis, Beta A, Lysosomal |
|
Aggressive behavior, Hyperactivity, Tortuosity of conjunctival vessels |
OMIM:248510 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux |
ORPHA:464288 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hyperactivity, Polyuria, Self-biting, Renal potassium ... |
OMIM:618314 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... |
OMIM:616307 |
| Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... |
OMIM:600886 |
| Cach Syndrome |
|
Renal hypoplasia, Dysphagia |
ORPHA:135 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308750 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... |
OMIM:120330 |
| Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Renal insufficiency, Oliguria |
ORPHA:188 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Abnormality of the kidney |
OMIM:118100 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Acute kidney injury, Anuria |
ORPHA:90038 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria |
OMIM:143880 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Ketonuria |
OMIM:619053 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
| Microscopic Polyangiitis |
|
Erythema, Oliguria, Skin ulcer, Renal insufficiency, Hematuria, Glomerulopathy |
ORPHA:727 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis |
OMIM:616258 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Developmental cataract, Transient hypophosphatemia |
OMIM:127000 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Vesicoureteral reflux |
OMIM:619955 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormality of t... |
ORPHA:363444 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Astigmatism, Corneal opacity |
ORPHA:2323 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal hypoplasia, Umbilical hernia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia |
ORPHA:85321 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Unilateral renal agenesis, Attention deficit hyperactivity disorder, Renal ... |
OMIM:619227 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Mungan Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:611376 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux |
OMIM:613735 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hypercalcemia, Conjunctival whitish salt-like deposits, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Redundant neck skin, Micropenis, Dysphagia, Patent d... |
ORPHA:96170 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue irides, Unstea... |
OMIM:615516 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... |
OMIM:266900 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Primary Lateral Sclerosis, Juvenile |
|
Dysphagia, Pallor, Pseudobulbar paralysis |
OMIM:606353 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... |
OMIM:606995 |
| Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia |
ORPHA:514 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infections, Micropenis, Pate... |
OMIM:609029 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity |
OMIM:619470 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Cataract, Abnormal cornea morphology, Iris coloboma |
ORPHA:2611 |
| Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia |
OMIM:616817 |
| Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis |
OMIM:614900 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulati... |
ORPHA:94093 |
| Isolated Atp Synthase Deficiency |
|
Renal hypoplasia, 3-Methylglutaconic aciduria |
ORPHA:254913 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Micropenis, Unilateral renal agenesis, Vesicoureteral reflux |
OMIM:619951 |
| Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu... |
OMIM:617595 |
| Pseudohypoparathyroidism Type 1C |
|
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Polyphagia, Calcinosis, Conjuncti... |
ORPHA:79444 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... |
OMIM:613550 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Patent ductus arteriosus |
OMIM:617190 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivit... |
OMIM:620141 |
| Retinitis Pigmentosa 51 |
|
Pallor, Abnormality of the kidney |
OMIM:613464 |
| Rauch-Steindl Syndrome |
|
Bilateral renal hypoplasia, Hyperechogenic kidneys, Aggressive behavior, Hyperactivity, Motor ste... |
OMIM:619695 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Renal insufficiency |
ORPHA:1307 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308700 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Renal hypoplasia, Spinal dysraphism, Vesicoureteral reflux |
OMIM:617660 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia |
ORPHA:75389 |
| Fanconi Anemia, Complementation Group N |
|
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ectopic kidney, Pelvic kidney |
OMIM:610832 |
| Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hyperactivity, Ataxia |
OMIM:615924 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Pseudohypoparathyroidism Type 1A |
|
Cataract, Band keratopathy, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Polyphagia, Cal... |
ORPHA:79443 |
| Matthew-Wood Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux |
ORPHA:2470 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity |
OMIM:618090 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Umbilical hernia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Dry skin, Umbilical hernia |
ORPHA:1035 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Cystinosis |
|
Polydipsia, Hypokalemia, Hypophosphatemia, Gait disturbance, Corneal opacity, Motor stereotypy |
ORPHA:213 |
| Non-Functioning Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Pallor, Hematuria, Elevat... |
ORPHA:94080 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... |
ORPHA:49041 |
| Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Sepsis In Premature Infants |
|
Oliguria, Reversible renal failure, Petechiae, Pallor, Purpura |
ORPHA:90051 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis |
ORPHA:382 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus after premature birth |
OMIM:620454 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney |
OMIM:616541 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Umbilical hernia, Dry skin, Vesicoureteral reflux, P... |
OMIM:620654 |
| 12Q14 Microdeletion Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Ectopic kidney |
ORPHA:94063 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage... |
ORPHA:567548 |
| Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... |
OMIM:236730 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Unilateral renal agenesis, Renal agenesis |
OMIM:608980 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... |
ORPHA:2842 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Dysphagia, Pallor |
OMIM:613561 |
| Lujo Hemorrhagic Fever |
|
Oliguria, Renal insufficiency, Ecchymosis, Microscopic hematuria, Dysphagia, Purpura |
ORPHA:319213 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Methylmalonic aciduria |
ORPHA:79284 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia |
ORPHA:411515 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... |
ORPHA:2970 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Cholera |
|
Acute kidney injury, Palmoplantar cutis laxa, Decreased urine output, Abnormality of renal excret... |
ORPHA:173 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst |
OMIM:614091 |
| Cyclic Vomiting Syndrome |
|
Attention deficit hyperactivity disorder, Pallor, Anorexia |
OMIM:500007 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Renal hypoplasia, Spinal dysraphism, Nephroblastoma |
OMIM:612918 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... |
OMIM:618718 |
| Takenouchi-Kosaki Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Hypospadias, Patent ductus arteriosus |
OMIM:616737 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Childhood Absence Epilepsy |
|
Urinary incontinence, Attention deficit hyperactivity disorder, Pallor, Punding |
ORPHA:64280 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Abnormal urinary color |
ORPHA:90037 |
| Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Horseshoe kidney, Neonatal death, Hydronephrosis, Patent ductus arteriosus, Pel... |
OMIM:601186 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... |
ORPHA:322 |
| Rheumatic Fever |
|
Nephrotic syndrome, Pallor, Erythema, Anorexia |
ORPHA:3099 |
| Marden-Walker Syndrome |
|
Micropenis, Renal hypoplasia, Hypospadias |
OMIM:248700 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
| Schizophrenia 1 |
|
Partially duplicated kidney, Ectopic kidney, Renal agenesis |
OMIM:181510 |
| Cold Agglutinin Disease |
|
Pallor, Abnormal urinary color |
ORPHA:56425 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Patent ductus arteriosus, Neonatal death |
OMIM:620024 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... |
ORPHA:2237 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Oliguria, Dicarboxylic aciduria |
ORPHA:159 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Agitation |
ORPHA:276608 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death |
OMIM:613730 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Polyphagia, Pallor, Agitation |
ORPHA:276556 |
| Fanconi Anemia, Complementation Group F |
|
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney, Patent ductus arteriosus |
OMIM:603467 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Patent ductus arteriosus, Enlarged kidney, Umbilical hernia |
OMIM:618188 |
| Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... |
ORPHA:3027 |
| Duane-Radial Ray Syndrome |
|
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... |
OMIM:607323 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Patent ductus arteriosus after premature birth, Hydronep... |
OMIM:618460 |
| 7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Hydronephrosis, Aggressive behav... |
ORPHA:96121 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
| Yellow Fever |
|
Acute kidney injury, Renal insufficiency, Anuria |
ORPHA:99829 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Aggressive b... |
OMIM:271980 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... |
OMIM:613390 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Motor stereotypy, Attention d... |
ORPHA:464311 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney, Abnormality of the kidney |
ORPHA:3109 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter, Death in infancy |
OMIM:618240 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Polyphagia, Pallor, Agitation |
ORPHA:276575 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Developmental cataract |
ORPHA:93325 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Erythema, Umbilical hernia, Hydronephrosis, Stillbirth |
OMIM:308050 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Abnormal urinary color |
ORPHA:90036 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output |
ORPHA:542323 |
| Mohr-Tranebjaerg Syndrome |
|
Dysphagia, Abnormal posturing |
OMIM:304700 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis, Dysphagia |
OMIM:617913 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Ectopia lentis, Hyperlysinemia, Hyperactivity, Dysdiadochokinesis |
OMIM:238700 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Polyphagia, Pallor, Agitation |
ORPHA:276580 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Pallor, Proteinuria, Renal Fanconi syndrome, Agitation |
ORPHA:263455 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Blue irides |
OMIM:101800 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Pallor, Hematuria, Protei... |
ORPHA:276621 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Polyphagia, Pallor, Agitation |
ORPHA:324575 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Anorexia |
ORPHA:49827 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Attention deficit hyperactivity disorder |
OMIM:614083 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Ectopic kidney, Renal agenesis, Renal dysplasia |
ORPHA:2578 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular dysfunction, Hematuria, Addictive alcohol use, Decreased urine... |
ORPHA:31826 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Motor stereotypy, Hyperactivi... |
ORPHA:464306 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal... |
OMIM:146510 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis |
OMIM:615994 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral reflux, Hydronephrosis, Renal cy... |
OMIM:618454 |
| Hypomagnesemia 3, Renal |
|
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... |
OMIM:248250 |
| Teratoma, Pineal |
|
Polydipsia, Polyuria |
OMIM:273120 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Pseudotrisomy 13 Syndrome |
|
Micropenis, Encephalocele, Renal hypoplasia, Renal agenesis |
OMIM:264480 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in adolescence, Proximal tubulopathy, Polyuria, Death in childhood |
OMIM:560000 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Glomerulonephritis |
ORPHA:99931 |
| Helix Syndrome |
|
Hypocalciuria, Polydipsia, Dry skin, Renal insufficiency, Nephrolithiasis, Polyuria |
OMIM:617671 |
| Cerebrofacioarticular Syndrome |
|
Self-injurious behavior, Renal hypoplasia, Hypospadias |
ORPHA:314679 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Scaling skin, Dry skin |
OMIM:618419 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| Caudal Duplication |
|
Abnormal penis morphology, Myelomeningocele, Renal hypoplasia/aplasia, Spina bifida, Ureteral dup... |
ORPHA:1756 |
| Congenital Myopathy 17 |
|
Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction |
OMIM:618975 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Polyuria, Megacystis |
OMIM:125800 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Polyuria, Megacystis |
OMIM:304800 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system... |
ORPHA:468631 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... |
ORPHA:157215 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Encephalocele, Renal cyst, Stillbirth, Patent ductus arteriosus |
OMIM:616300 |
| Silver-Russell Syndrome 1 |
|
Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret... |
OMIM:180860 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine... |
OMIM:246450 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis |
OMIM:204690 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Unilateral renal agenesis, Umbilical hernia, Recurrent urinary tract infections |
ORPHA:221139 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Attention deficit hyp... |
ORPHA:261222 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Urinary incontinence, Dysphagia, Titubation, Abnormal posturing |
ORPHA:225147 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the blad... |
ORPHA:2547 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Patent ductus arteriosus, Abnormal posturing, Methylmalonic aciduria |
OMIM:614857 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... |
ORPHA:90324 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Reduced renal cort... |
ORPHA:731 |
| Phakomatosis Pigmentokeratotica |
|
Unilateral renal hypoplasia, Renal transitional cell carcinoma, Spina bifida, Nephroblastoma |
ORPHA:2874 |
| Andersen-Tawil Syndrome |
|
Renal hypoplasia, Renal tubular dysfunction |
ORPHA:37553 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis |
OMIM:620023 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity |
ORPHA:500180 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Pallor, Hematuria, Protei... |
ORPHA:29072 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
| Colchicine Poisoning |
|
Oliguria, Renal insufficiency |
ORPHA:31824 |
| Kinsship Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Bruxism, Death in infancy, Motor stereotypy |
OMIM:619297 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Dry skin, Pyelonephritis, Renal insufficiency |
OMIM:181270 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Aggressive behavior, Hyperactiv... |
ORPHA:3077 |
| Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... |
OMIM:620305 |
| Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
ORPHA:2673 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Abnormal urinary color |
ORPHA:90033 |
| Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Neonatal death, Anencephaly, Patent ductus arteriosus, Cystic renal dysplasia |
OMIM:269860 |
| Cornelia De Lange Syndrome 1 |
|
Self-injurious behavior, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesico... |
OMIM:122470 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... |
ORPHA:49 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Pallor, Oral aversion, Anorexia, Agitation |
ORPHA:134 |
| Dravet Syndrome |
|
Pallor, Obsessive-compulsive trait, Impulsivity |
ORPHA:33069 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis |
OMIM:619194 |
| Smith-Lemli-Opitz Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Ureteropelvic junction obstruction, ... |
OMIM:270400 |
| Leishmaniasis |
|
Pallor, Skin ulcer, Anorexia |
ORPHA:507 |
| Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Premature skin wrinkling, Pyelonephritis, Redundant skin, Redundant ne... |
ORPHA:90348 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Patent ductus arteriosus, Se... |
OMIM:213980 |
| Amyloidosis, Finnish Type |
|
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Cutis laxa, Nephrotic syndrome... |
OMIM:105120 |
| Stromme Syndrome |
|
Hydronephrosis, Bilateral renal hypoplasia, Stillbirth |
OMIM:243605 |
| Van Maldergem Syndrome 1 |
|
Renal hypoplasia, Hypospadias |
OMIM:601390 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Umbilical hernia, Abnormality of the ureter, Vesicoureteral r... |
ORPHA:93930 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal... |
OMIM:602522 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Hyperactivity |
ORPHA:457284 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor, Restlessness, Dysphagia, Agitation |
ORPHA:13 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Umbilical hernia, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Primary Myelofibrosis |
|
Pallor, Petechiae, Ecchymosis, Anorexia, Purpura |
ORPHA:824 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Attention deficit hyperactivity disorder, Branchial fistula, Patent du... |
ORPHA:261337 |
| Van Maldergem Syndrome 2 |
|
Micropenis, Renal hypoplasia, Hypospadias |
OMIM:615546 |
| Hereditary Folate Malabsorption |
|
Anorexia, Pallor, Recurrent urinary tract infections |
ORPHA:90045 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:300971 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... |
OMIM:607364 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hype... |
ORPHA:466650 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301013 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis |
OMIM:602200 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Difficulty walking, Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Polydipsia, Elevated circulating crea... |
ORPHA:411634 |
| Fanconi Anemia, Complementation Group A |
|
Renal agenesis, Horseshoe kidney, Abnormal renal morphology, Anemic pallor, Duplicated collecting... |
OMIM:227650 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the renal pelvis, Ves... |
ORPHA:95699 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Corneal crystals, Polydipsia, Hypokalemia, Hypophosphatemia, Abnormal... |
ORPHA:411629 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Difficulty walking, Hypophosphatemia, Abnormal circulating calcium concentration, Hypophosphatemi... |
OMIM:241530 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Motor stereotypy, Spina bifida, ... |
ORPHA:508498 |
| Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
| Waldenström Macroglobulinemia |
|
Purpura, Renal insufficiency, Pallor, Anorexia |
ORPHA:33226 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Hypospadias, Patent ductus arteriosus |
ORPHA:487796 |
| Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:3138 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... |
OMIM:277400 |
| Fanconi Anemia, Complementation Group E |
|
Renal agenesis, Horseshoe kidney, Anemic pallor, Duplicated collecting system, Ectopic kidney |
OMIM:600901 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polydipsia, Polyuria |
OMIM:613677 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... |
ORPHA:1834 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Leopard Syndrome 1 |
|
Micropenis, Unilateral renal agenesis, Hypospadias, Spina bifida occulta |
OMIM:151100 |
| Cockayne Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Premature skin wrinkling, Renal insufficiency, Prote... |
ORPHA:191 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal salt wasting |
OMIM:613845 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Unilateral renal agenesis, Dilatation of the renal pelvis, Recurrent urinary tract infections, St... |
ORPHA:268261 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Patent ductus... |
ORPHA:30 |
| 8Q24.3 Microdeletion Syndrome |
|
Unilateral renal agenesis, Branchial cyst, Bilateral renal hypoplasia, Vesicoureteral reflux, Spi... |
ORPHA:508488 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal... |
OMIM:118450 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Perianal erythema, Renal agenesis, Umbil... |
OMIM:308205 |
| Arima Syndrome |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Occipital meningocele, Renal sodium... |
OMIM:243910 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hypophosphatemia, Polydipsia, Calcinosis |
OMIM:239200 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Plummer-Vinson Syndrome |
|
Pallor, Dysphagia, Geophagia |
ORPHA:54028 |
| Syndromic Diarrhea |
|
Dry skin, Renal hypoplasia, Polycystic kidney dysplasia, Patent ductus arteriosus |
ORPHA:84064 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Difficulty walking, Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Polydipsia, Renal sodium wasting, Salt craving, Polyuria, Renal salt was... |
OMIM:612780 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia, Lenticonus, Anterior polar cataract |
OMIM:104200 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis |
OMIM:619362 |
| Cardiogenic Shock |
|
Oliguria |
ORPHA:97292 |
| Congenital Heart Block |
|
Pallor, Patent ductus arteriosus |
ORPHA:60041 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Polydipsia, Renal insuffic... |
ORPHA:223 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets, Waddling ... |
OMIM:307800 |
| Huntington Disease-Like 1 |
|
Restlessness, Abnormal posturing |
ORPHA:157941 |
| Poland Syndrome |
|
Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Encephalocele, Renal hypoplasia/aplasia, Du... |
ORPHA:2911 |
| Beta-Thalassemia Intermedia |
|
Proximal tubulopathy, Pallor, Skin ulcer |
ORPHA:231222 |
| Zttk Syndrome |
|
Horseshoe kidney, Unilateral renal agenesis, Patent ductus arteriosus, Polyuria |
OMIM:617140 |
| Trisomy 13 |
|
Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Multiple renal cy... |
ORPHA:3378 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Attention deficit hyperactivity disorder, Dysphagia, Abnormal posturing |
ORPHA:216866 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Gait disturbance, Hypocalcemia |
ORPHA:93160 |
| Smith-Magenis Syndrome |
|
Self-injurious behavior, Abnormality of the ureter, Renal hypoplasia/aplasia, Attention deficit h... |
ORPHA:819 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Erythema, Pallor, Death in childhood, Renal Fanconi syndrome, Hypercal... |
OMIM:557000 |
| Degcags Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ... |
OMIM:619488 |
| Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
| Prune Belly Syndrome |
|
Hydronephrosis, Hydroureter, Patent ductus arteriosus, Congenital posterior urethral valve |
OMIM:100100 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Self-mutilation, Recurrent corneal erosions, Hyperactivity, Opacific... |
OMIM:256800 |
| Fanconi Anemia, Complementation Group D2 |
|
Renal agenesis, Horseshoe kidney, Renal duplication, Attention deficit hyperactivity disorder, An... |
OMIM:227646 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
| Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Pallor |
OMIM:194380 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Panhypophysitis |
|
Polydipsia, Hyposthenuria, Pallor |
ORPHA:95513 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor, Increased urinary glycerol |
ORPHA:348 |
| Cloacal Exstrophy |
|
Hydroureter, Ureterocele, Horseshoe kidney, Myelomeningocele, Vesicoureteral reflux, Ureteropelvi... |
ORPHA:93929 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Gait disturbance, Hypocalcemia |
ORPHA:352540 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria, Pallor |
OMIM:300908 |
| Acrofacial Dysostosis 1, Nager Type |
|
Unilateral renal agenesis, Patent ductus arteriosus |
OMIM:154400 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death... |
OMIM:263200 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Difficulty walking, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| Hereditary Fructose Intolerance |
|
Cataract, Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
| Fanconi Anemia, Complementation Group C |
|
Renal agenesis, Horseshoe kidney, Anemic pallor, Duplicated collecting system, Ectopic kidney |
OMIM:227645 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... |
OMIM:613090 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Renal hypoplasia, Patent ductus arteriosus, Ureteral stenosis |
OMIM:270100 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Proboscis Lateralis |
|
Ureteral agenesis, Unilateral renal agenesis, Patent ductus arteriosus, Duplication of renal pelvis |
ORPHA:141099 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia, Waddling gait |
OMIM:156400 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Ketonuria, Pallor, Anorexia |
ORPHA:20 |
| 22Q11.2 Deletion Syndrome |
|
Renal hypoplasia, Umbilical hernia, Vesicoureteral reflux, Purpura, Attention deficit hyperactivi... |
ORPHA:567 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria, Pallor |
ORPHA:35858 |
| Fumarase Deficiency |
|
Aminoaciduria, Elevated urine fumaric acid level, Pallor, Bilateral fetal pyelectasis, Increased ... |
OMIM:606812 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Abnormality of the ureter, Spina bifida occulta, Meningocele, Hypospadias |
ORPHA:2311 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unilateral renal agenesis, Erythema, Bruxism, Stereotypical body rocking, Dry skin, Cutis laxa, F... |
OMIM:619503 |
| Gitelman Syndrome |
|
Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Salt craving, Polyuria, Nocturia, R... |
OMIM:263800 |
| Diamond-Blackfan Anemia 1 |
|
Spina bifida occulta, Renal hypoplasia, Pallor |
OMIM:105650 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:85327 |
| 14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia |
ORPHA:264200 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis |
ORPHA:139466 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... |
OMIM:610042 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma |
ORPHA:2869 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Pallor, Organic aciduria |
OMIM:301310 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Williams Syndrome |
|
Death in early adulthood, Overfriendliness, Patent ductus arteriosus, Renal insufficiency, Renal ... |
ORPHA:904 |
| Adenohypophysitis |
|
Pallor, Hyposthenuria |
ORPHA:95512 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Renal hypoplasia, Patent ductus arteriosus |
OMIM:620005 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... |
ORPHA:2973 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Bruxism, Unilateral renal hypoplasia, Agitation, Self-mutilation, Stereotypical hand wringing, Ex... |
OMIM:619950 |
| Alagille Syndrome |
|
Spina bifida occulta, Abnormality of the ureter, Nephrotic syndrome, Renal hypoplasia/aplasia |
ORPHA:52 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| Williams-Beuren Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Umbilical hernia, Renal a... |
OMIM:194050 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Dry skin, Death in childhood, Death in infancy, Renal cyst, Stillbirth, Micrope... |
OMIM:210710 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
| Digeorge Syndrome |
|
Unilateral renal agenesis, Umbilical hernia, Renal insufficiency, Hydronephrosis, Attention defic... |
OMIM:188400 |
| X-Linked Creatine Transporter Deficiency |
|
Ataxia, Self-mutilation, Hyperactivity, Abnormal circulating creatine concentration, Athetosis |
ORPHA:52503 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Trisomy 20P |
|
Umbilical hernia, Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Spina bifida, ... |
ORPHA:261318 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
| Coffin-Siris Syndrome 1 |
|
Renal hypoplasia, Hydroureter, Umbilical hernia, Hydronephrosis, Aggressive behavior, Ectopic kid... |
OMIM:135900 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Renpenning Syndrome 1 |
|
Renal hypoplasia, Hypospadias, Death in childhood, Phimosis |
OMIM:309500 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... |
OMIM:227810 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Difficulty walking, Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
| Esophageal Atresia |
|
Abnormality of the urinary system, Renal agenesis, Pallor, Oral aversion, Dysphagia |
ORPHA:1199 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Horseshoe kidney, Bilateral renal dysplasia, Patent ductus arteriosus ... |
ORPHA:500150 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary norepinephrine level, Pallor, Elevated urinary vanillylmandelic acid, Nephrolith... |
ORPHA:653 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Renal hypoplasia |
OMIM:619321 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Polydipsia, Glycosuria, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Dysphagia, Abnormal posturing |
OMIM:128100 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Renal hypoplasia, Redundant neck skin, Recurrent urinary tract infections |
OMIM:617157 |
| Neuroblastoma |
|
Anemic pallor, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevat... |
ORPHA:635 |
| Fraser Syndrome 1 |
|
Renal hypoplasia, Myelomeningocele, Encephalocele, Renal hypoplasia/aplasia, Micropenis, Hypospadias |
OMIM:219000 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ... |
ORPHA:93111 |
| Lacrimoauriculodentodigital Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Dysphagia, Patent ductus arteriosus |
ORPHA:2363 |
| Pallister-Hall Syndrome |
|
Hypospadias, Unilateral renal agenesis, Bilateral renal agenesis, Umbilical hernia, Paroxysmal bu... |
ORPHA:672 |
| Sheehan Syndrome |
|
Dry skin, Pallor, Hyposthenuria |
ORPHA:91355 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Cataract, Lentiglobus, Abnormal pupil morphology, Hyponatremia, Hypokale... |
ORPHA:534 |
| Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Townes-Brocks Syndrome |
|
Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne... |
ORPHA:857 |
| Von Hippel-Lindau Disease |
|
Pallor, Multiple renal cysts, Renal cell carcinoma, Elevated urinary catecholamine level |
ORPHA:892 |
| Lumbar Syndrome |
|
Renal agenesis, Myelomeningocele, Vesicoureteral reflux, Renal duplication, Spina bifida, Micrope... |
ORPHA:83628 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Cutis laxa, Renal duplication |
OMIM:270420 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Pallor, Cylindruria,... |
OMIM:233450 |
| Histiocytoid Cardiomyopathy |
|
Renal cyst, Pallor |
ORPHA:137675 |
| Alternating Hemiplegia Of Childhood |
|
Oral-pharyngeal dysphagia, Pallor, Aggressive behavior, Anorexia, Dysphagia, Impulsivity |
ORPHA:2131 |
| Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Redundant neck skin, Hydronephro... |
ORPHA:2729 |
| American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
| Pearson Syndrome |
|
Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Corneal stromal edema, Hypophosphatemia, Hyp... |
ORPHA:699 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia, Death in infancy |
ORPHA:2241 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... |
ORPHA:79403 |
| Baller-Gerold Syndrome |
|
Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux |
ORPHA:1225 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Polydipsi... |
OMIM:241200 |
| Townes-Brocks Syndrome 1 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Umbilical hernia, Renal insufficiency, Vesicouret... |
OMIM:107480 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, Stillbirth, Hypoplasia of... |
OMIM:617667 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep... |
ORPHA:3339 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... |
ORPHA:158684 |
| Diamond-Blackfan Anemia |
|
Horseshoe kidney, Hypospadias, Renal agenesis, Pallor |
ORPHA:124 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Inappropriate laughter, Self-mutilation, Aggressive behavior, Ureter... |
ORPHA:457212 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... |
OMIM:601678 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Renal hypoplasia, Vesicoureteral reflux, Paroxysmal bursts of laughter, Hyperactivity, Micropenis... |
OMIM:309580 |
| Dextrocardia |
|
Abnormality of the ureter, Abnormal renal morphology |
ORPHA:1666 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Neonatal death, Patent duc... |
OMIM:208540 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Renal dysplasia, Death in infancy, Polyuria |
OMIM:618183 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Fibrous Dysplasia Of Bone |
|
Difficulty walking, Hypercalcemia, Hypophosphatemia, Antalgic gait |
ORPHA:249 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Aggre... |
OMIM:612716 |
| Charge Syndrome |
|
Renal hypoplasia, Renal agenesis, Umbilical hernia, Horseshoe kidney, Self-mutilation, Hydronephr... |
OMIM:214800 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
| Vici Syndrome |
|
Abnormal posturing, Dysphagia, Penile hypospadias |
OMIM:242840 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormality of the kidney, Hypo... |
ORPHA:289 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia |
ORPHA:99880 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula |
ORPHA:93271 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Unilateral renal hypoplasia, Micropenis, Patent ductus arteriosus, Episp... |
OMIM:615948 |
| Parathyroid Carcinoma |
|
Polydipsia, Hypophosphatemia, Dysphagia, Hypercalcemia |
ORPHA:143 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor |
OMIM:266200 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, D-2-hydroxyglutaric aciduria, Dry skin |
ORPHA:99646 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Peters-Plus Syndrome |
|
Renal hypoplasia, Umbilical hernia, Hydronephrosis, Ureteral duplication, Hypospadias, Patent duc... |
OMIM:261540 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
| Dominant Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:231226 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Hereditary Spherocytosis |
|
Pallor, Skin ulcer |
ORPHA:822 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... |
ORPHA:79102 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... |
ORPHA:3337 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Dent Disease |
|
Renal hypophosphatemia, Cataract, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Argininemia |
|
Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Spastic gait |
OMIM:207800 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Acrorenal-Mandibular Syndrome |
|
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder |
OMIM:200980 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Beta-Thalassemia Major |
|
Pallor, Skin ulcer |
ORPHA:231214 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Hypospadias, Renal agenesis, Anencephaly |
OMIM:313850 |
| Microphthalmia, Syndromic 1 |
|
Renal hypoplasia, Hydroureter, Self-mutilation, Renal hypoplasia/aplasia, Aggressive behavior, Hy... |
OMIM:309800 |
| Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
| Schwartz-Jampel Syndrome |
|
Abnormality of the urinary system, Umbilical hernia, Abnormality of the ureter, Death in infancy,... |
ORPHA:800 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Microphthalmia, Syndromic 6 |
|
Renal hypoplasia |
OMIM:607932 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Myelomeningocele, Hydronephrosis, Micr... |
OMIM:258040 |
| Schinzel-Giedion Syndrome |
|
Umbilical hernia, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Ren... |
ORPHA:798 |
| Incontinentia Pigmenti |
|
Erythema, Pallor |
OMIM:308300 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Occipital encephalocele, Renal agenesis, Abnormality of the ureter, La... |
OMIM:249000 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstructio... |
OMIM:192350 |
| Diphallia |
|
Penoscrotal transposition, Bladder exstrophy, Horseshoe kidney, Distal urethral duplication, Rena... |
ORPHA:227 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dysphagia, Pallor |
ORPHA:3260 |
| Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia |
OMIM:229600 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Dry skin, Dysphagia, Polyuria, Facial wrinkling |
OMIM:606721 |
| Congenital Tracheal Stenosis |
|
Abnormality of the ureter, Patent ductus arteriosus, Abnormality of the kidney |
ORPHA:141127 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets |
ORPHA:289176 |
| Unilateral Polymicrogyria |
|
Abnormal posturing, Pseudobulbar paralysis |
ORPHA:268943 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor, Patent ductus arteriosus |
ORPHA:99125 |
