Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... |
OMIM:601198 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia |
ORPHA:2239 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Pulp calcification, Calcinosis, Nephrocalcinosis,... |
OMIM:211900 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... |
OMIM:616963 |
Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Blue Diaper Syndrome |
|
Hypercalcemia, Blue urine, Hyperphosphatemia, Nephrocalcinosis |
ORPHA:94086 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney diseas... |
OMIM:618913 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Micrognathia, Abnormal nephron morphology, Abn... |
ORPHA:2260 |
Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis |
OMIM:219050 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
OMIM:256690 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Micrognathia, Renal agenesis, Unilateral renal agenesis |
OMIM:601076 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... |
ORPHA:99845 |
Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Ureteral atresia, Bilateral renal agenesis, Unilateral renal agenesis |
OMIM:618845 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administra... |
OMIM:612462 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hyperphosphatemia |
ORPHA:36913 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Delayed eruption of teeth, Low urinary cyclic AMP res... |
ORPHA:94089 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Renal cyst, Bronchiolitis, Recurrent respiratory infections, Ren... |
OMIM:615993 |
Radial-Renal Syndrome |
|
Ectopic kidney, Unilateral renal agenesis |
OMIM:179280 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micrognathia, Hypocalcemic seizures, Micropenis, Hypocalcemia, Hyperphosphatemia |
OMIM:241410 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administra... |
OMIM:103580 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
Sanjad-Sakati Syndrome |
|
Micrognathia, Abnormal dental enamel morphology, Hypocalcemia, Recurrent respiratory infections, ... |
ORPHA:2323 |
Renal Agenesis |
|
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, P... |
ORPHA:411709 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... |
OMIM:613388 |
Braddock Syndrome |
|
Micrognathia, Pulmonary fibrosis, Unilateral renal agenesis |
ORPHA:52047 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis |
OMIM:612287 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Micrognathia, Micropenis, Retrognathia, Unilateral renal agenesis |
OMIM:618142 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria |
OMIM:612286 |
Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... |
ORPHA:99879 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis |
OMIM:601355 |
Hyperphosphatasia With Mental Retardation Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... |
OMIM:134600 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Thymic Aplasia With Fetal Death |
|
Ureteral agenesis, Pulmonary hypoplasia, Renal agenesis |
OMIM:274210 |
Bladder Exstrophy And Epispadias Complex |
|
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias |
OMIM:600057 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... |
OMIM:104200 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, H... |
OMIM:101800 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:244200 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Myoglobinuria, Hypernatremia, Elevated circulating creatine kinase co... |
ORPHA:94093 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Hypospadias, Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract ... |
ORPHA:363444 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Proximal tubulopathy, Enamel hypoplasia, Retr... |
OMIM:614576 |
Nager Syndrome |
|
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone, Unilateral renal agenesis |
ORPHA:245 |
Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciuria, Hyperphosphatemia |
ORPHA:428 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Williams-Beuren Region Duplication Syndrome |
|
Micrognathia, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Pneumonia,... |
ORPHA:340 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Horseshoe kidney, Ectopic kidney, Abnormality of the kidney, Unilateral renal agenesis |
ORPHA:3109 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol... |
OMIM:137920 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Increased circulating beta-C-terminal telop... |
ORPHA:157215 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperp... |
ORPHA:423 |
Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
Emanuel Syndrome |
|
Renal hypoplasia, Micrognathia, Broad jaw, Delayed eruption of teeth, Micropenis, Unilateral rena... |
ORPHA:96170 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Renal dysplasia, Bifid ureter, Decreased numb... |
OMIM:617641 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Tooth abscess, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Unilateral renal agenesis |
OMIM:608406 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Delayed eruption of teeth, Low urinary cy... |
ORPHA:79444 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Micrognathia, Unilateral renal agenesis |
ORPHA:1064 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... |
OMIM:300554 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... |
OMIM:300009 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... |
ORPHA:3337 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hydronephrosis, Hypocalcemic seizures, Renal dysplasia, Hypocalcemia, Unilateral renal agenesis, ... |
ORPHA:2237 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Hyperphosphatemia |
ORPHA:457059 |
Coach Syndrome 1 |
|
Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic kidney diseas... |
OMIM:216360 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... |
OMIM:600740 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis |
ORPHA:3306 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis |
OMIM:274265 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Micrognathia, Renal agenesis |
OMIM:212780 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth |
ORPHA:3145 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Retrognathia, Unilateral renal agenesis |
OMIM:619227 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... |
OMIM:227810 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis |
OMIM:118100 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Delayed eruption of teeth, Low urinary cy... |
ORPHA:79443 |
Chromosome 17Q12 Deletion Syndrome |
|
Renal hypoplasia, Micrognathia, Hydronephrosis, Urethral stenosis, Mandibular prognathia, Renal c... |
OMIM:614527 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis |
OMIM:606408 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Hypocalcemic tetany, Hypocalcemic seizures, Persistence of primary teeth, Hyperpho... |
ORPHA:93325 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu... |
ORPHA:411634 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Renal hypoplasia, Abnormal circulating lipid concentration, Micropenis, Unilateral renal agenesis... |
OMIM:616541 |
Cystinosis |
|
Renal tubular dysfunction, Hypokalemia, Hypophosphatemia, Nephropathy, Aminoaciduria, Proteinuria... |
ORPHA:213 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal tubular dysfunction, Enamel hypomineralization, Hypophosphatemia, Renal phosphate wasting, ... |
OMIM:307800 |
Microgastria-Limb Reduction Defects Association |
|
Cystic renal dysplasia, Horseshoe kidney, Abnormal lung lobation, Pelvic kidney, Unilateral renal... |
OMIM:156810 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Abnormality of the kidney |
ORPHA:2611 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia, Methylmalonic acidu... |
ORPHA:79284 |
Uremic Pruritus |
|
Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate... |
ORPHA:94059 |
Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Unilateral renal agenesis |
OMIM:308205 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Micrognathia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypercalciuria |
OMIM:156400 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Hydronephrosis, Dental malocclusion |
OMIM:616737 |
Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308750 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Hypophosp... |
ORPHA:2088 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypospadias, Hypoplasia of the nasal bone, Mandibular prognathia, Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Unilateral renal agenesis |
OMIM:618419 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Calcium nephrolithiasis, Hy... |
OMIM:241530 |
Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff... |
ORPHA:31824 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Parathormone-independent increased renal t... |
ORPHA:405 |
Smith-Lemli-Opitz Syndrome |
|
Hypospadias, Renal hypoplasia, Micrognathia, Hydronephrosis, Renal agenesis, Abnormal lung lobati... |
OMIM:270400 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Elevated circulating creatine kinase concentration, Acute kidney injury, Oliguria, ... |
ORPHA:466650 |
Toluene Embryopathy |
|
Abnormal localization of kidney, Micrognathia, Hypoplasia of the zygomatic bone, Hydronephrosis |
ORPHA:1920 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308700 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Hypophosphatemia, Hypercalciuria, Po... |
OMIM:239200 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Micrognathia, Hydronephrosis, Unilateral renal agenesis, Retrognathia, Dental malocc... |
ORPHA:96121 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Hypoplasia of the zygomatic bone |
ORPHA:3074 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphatemia, Renal hamartoma, ... |
ORPHA:99880 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemic seizures, Hypophosphatemia, Delayed eruption of teeth, En... |
OMIM:264700 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Unilateral renal agenesis |
OMIM:608980 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Parathyroid Carcinoma |
|
Hypercalcemia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphatemia, Renal hamartoma, ... |
ORPHA:143 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Pelvic kidney, Abnormal renal collecting system morphology, Retrognathia, Unilateral... |
ORPHA:468631 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent aspiration pneumonia, Unilateral renal agenesis |
ORPHA:221139 |
Renal Hypodysplasia/Aplasia 1 |
|
Renal agenesis, Renal dysplasia, Proteinuria, Retrognathia, Pulmonary hypoplasia |
OMIM:191830 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Maxillozygomatic hypopl... |
OMIM:273050 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Hypocalcemic seizures, Hypophosphatemia, Delayed eruption of teeth, Enamel hypoplasia |
OMIM:277440 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Abnormal tubul... |
ORPHA:411629 |
Raine Syndrome |
|
Micrognathia, Hydronephrosis, Hydroureter, Mandibular prognathia, Hypophosphatemia, Enamel hypopl... |
OMIM:259775 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Hypoplasia of the premaxilla, Unilateral renal agenesis |
ORPHA:2673 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:398063 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Renal hypoplasia, Hydronephrosis, Urinary retention, Enamel hypoplasia, Unilateral... |
ORPHA:90324 |
Acrofacial Dysostosis 1, Nager Type |
|
Micrognathia, Trismus, Retrognathia, Unilateral renal agenesis |
OMIM:154400 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Nephrolithiasis, Hypocalcemia |
ORPHA:93160 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Hydronephrosis, Pelvic kidney, Renal cyst, Micropenis, Unilateral renal agenesis |
ORPHA:464311 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemic seizures, Hypophosphatemia, Delayed eruption of teeth, En... |
ORPHA:289157 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Hydronephrosis, Pelvic kidney, Renal cyst, Micropenis, Unilateral renal agenesis |
ORPHA:464306 |
Cockayne Syndrome |
|
Carious teeth, Renal hypoplasia, Nephrotic syndrome, Abnormal renal physiology, Hyperuricemia, Un... |
ORPHA:191 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Bilateral renal agenesis, Hydroureter, Retrognathia, Unilateral renal agenesis |
OMIM:619194 |
Penoscrotal Transposition |
|
Hypospadias, Micrognathia, Abnormality of the ureter, Renal agenesis, Renal dysplasia, Abnormalit... |
ORPHA:2842 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Total anomalous pulmonary venous return, Unilateral renal agenesis, ... |
ORPHA:487796 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Hypoplasia of the zygomatic bone, Glomerulopathy, Proteinuria, Renal insuf... |
ORPHA:2715 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Hereditary Fructose Intolerance |
|
Hypophosphatemia, Hyperuricemia, Chronic kidney disease, Hypermagnesemia, Renal insufficiency |
ORPHA:469 |
Zttk Syndrome |
|
Horseshoe kidney, Unilateral lung agenesis, Unilateral renal agenesis, Hypoplasia of the maxilla,... |
OMIM:617140 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Micropenis, Hypospadias, Unilateral renal agenesis |
OMIM:151100 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone |
ORPHA:2835 |
Serkal Syndrome |
|
Hypospadias, Renal agenesis, Abnormal penis morphology, Hypoplasia of the bladder, Pulmonary hypo... |
ORPHA:139466 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypospadias, Chordee, Supernumerary tooth, Recurrent urinary tract infections, Micropenis, Retrog... |
ORPHA:268261 |
Opsismodysplasia |
|
Renal phosphate wasting, Recurrent respiratory infections, Hypophosphatemia |
OMIM:258480 |
Autosomal Dominant Cutis Laxa |
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Peripheral pulmonary artery stenosis, Bronchiectasis, Pyelonephritis, Bronchiolitis, Unilateral r... |
ORPHA:90348 |
Acro-Renal-Mandibular Syndrome |
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Micrognathia, Abnormal lung lobation, Hypoplasia of the zygomatic bone, Renal hypoplasia/aplasia,... |
ORPHA:958 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Hypospadias, Abnormality of the urinary system, Micropenis, Unilateral renal agenesis, Dilatation... |
ORPHA:95699 |
Oculocerebrorenal Syndrome Of Lowe |
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Carious teeth, Abnormal dental enamel morphology, Proximal renal tubular acidosis, Delayed erupti... |
ORPHA:534 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Carious teeth, Micrognathia, Abnormality of the ureter, Hypoplasia of the zygomatic bone, Abnorma... |
ORPHA:3253 |
Hypophosphatemic Rickets |
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Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Tooth abscess, Hypocalciuri... |
ORPHA:437 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Hypophosphatemia |
OMIM:600081 |
Distal 22Q11.2 Microduplication Syndrome |
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Mandibular prognathia, Micrognathia, Unilateral renal agenesis |
ORPHA:261337 |
X-Linked Mandibulofacial Dysostosis |
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Micrognathia, Abnormality of the pulmonary artery, Hypoplasia of the zygomatic bone |
ORPHA:1131 |
Digeorge Syndrome |
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Micrognathia, Hydronephrosis, Renal dysplasia, Unilateral renal agenesis, Hypocalcemia |
OMIM:188400 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
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Hypoplasia of the zygomatic bone, Hypoplasia of penis |
ORPHA:1295 |
Radio-Renal Syndrome |
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Micrognathia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia, Multicystic kidney dyspl... |
ORPHA:3015 |
Fructose Intolerance, Hereditary |
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Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Proximal rena... |
OMIM:229600 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Carious teeth, Hypoplasia of the zygomatic bone, Mandibular prognathia |
ORPHA:1110 |
Prolidase Deficiency |
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Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Recurrent cystitis, Recurrent resp... |
ORPHA:742 |
Distal 17P13.1 Microdeletion Syndrome |
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Hypoplasia of the zygomatic bone, Retrognathia |
ORPHA:319171 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney |
OMIM:602200 |
Autosomal Recessive Hypophosphatemic Rickets |
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Abnormality of renal excretion, Hyperphosphaturia, Delayed eruption of teeth, Renal phosphate was... |
ORPHA:289176 |
Mccune-Albright Syndrome |
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Hyperphosphaturia, Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Dental m... |
ORPHA:562 |
Cleidocranial Dysplasia |
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Carious teeth, Micrognathia, Mandibular prognathia, Hypoplasia of the zygomatic bone, Abnormal de... |
ORPHA:1452 |
Acrofacial Dysostosis, Catania Type |
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Carious teeth, Microretrognathia, Hypospadias, Hypoplasia of the zygomatic bone |
ORPHA:1786 |
Proboscis Lateralis |
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Ureteral agenesis, Aplasia/Hypoplasia of the maxilla, Duplication of renal pelvis, Unilateral ren... |
ORPHA:141099 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Horseshoe kidney, Unilateral lung agenesis, Unilateral renal agenesis, Hypoplasia of the maxilla,... |
ORPHA:500150 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
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Mandibular prognathia, Hypoplasia of the zygomatic bone |
ORPHA:1778 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Unilateral renal agenesis |
ORPHA:457284 |
Pallister-Hall Syndrome |
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Hypospadias, Abnormal lung lobation, Renal dysplasia, Recurrent upper and lower respiratory tract... |
ORPHA:672 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
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Renal agenesis |
OMIM:192050 |
Pfeiffer Syndrome |
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Mandibular prognathia, Hypoplasia of the zygomatic bone |
ORPHA:710 |
Fibrous Dysplasia Of Bone |
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Abnormal mandible morphology, Hypercalcemia, Hypophosphatemia, Abnormality of the maxilla |
ORPHA:249 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Micrognathia, Urinary urgency, Mandibular prognathia, Pelvic kidney, Delayed eruption of teeth, H... |
OMIM:619503 |
X-Linked Hypophosphatemia |
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Hypophosphatemia, Tooth abscess, Hypocalciuria, Renal phosphate wasting, Abnormal dentin morpholo... |
ORPHA:89936 |
Antley-Bixler Syndrome |
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Hypoplasia of the zygomatic bone, Abnormal renal morphology |
ORPHA:83 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, Hypoplasia of penis, Retrogn... |
ORPHA:1812 |
Thyrotoxic Periodic Paralysis |
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Hyperkalemia, Episodic hypokalemia, Urinary retention, Mildly elevated creatine kinase, Decreased... |
ORPHA:79102 |
Dysostosis, Stanescu Type |
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Carious teeth, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Abnormal dental ename... |
ORPHA:1798 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Hypospadias, Renal agenesis, Pulmonary artery stenosis, Hypoplasia of the bladder, Bilateral lung... |
OMIM:611812 |
Pearson Syndrome |
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Hypokalemia, Lacticaciduria, Renal cyst, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagne... |
ORPHA:699 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Mandibular prognathia, Ren... |
ORPHA:93111 |
Autosomal Recessive Malignant Osteopetrosis |
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Hypophosphatemia, Delayed eruption of teeth, Hypocalcemia, Pulmonary artery stenosis, Recurrent r... |
ORPHA:667 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
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Micrognathia, Hypoplasia of the zygomatic bone |
ORPHA:1968 |
8Q24.3 Microdeletion Syndrome |
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Bilateral renal hypoplasia, Abnormal lung lobation, Mesiodens, Pelvic kidney, Unilateral renal ag... |
ORPHA:508488 |
Marshall Syndrome |
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Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone |
ORPHA:560 |
Holoprosencephaly |
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Hyponatremia, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, Abnormality of the urinary sy... |
ORPHA:2162 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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D-2-hydroxyglutaric aciduria, Recurrent pneumonia, Retrognathia, Unilateral renal agenesis |
ORPHA:99646 |
Cohen Syndrome |
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Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone |
ORPHA:193 |
Hajdu-Cheney Syndrome |
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Hypospadias, Micrognathia, Hypoplasia of the zygomatic bone, Abnormal mandible morphology, Multip... |
ORPHA:955 |
Orofaciodigital Syndrome Type 1 |
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Micrognathia, Hydronephrosis, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology... |
ORPHA:2750 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Hypoamylasemia, Reduced C-peptide level, Hypoplasia of the zygomatic bone |
ORPHA:556955 |
Treacher-Collins Syndrome |
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Micrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, Retrognathia, ... |
ORPHA:861 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
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Hypoplasia of the zygomatic bone |
ORPHA:1555 |
Cardiofaciocutaneous Syndrome |
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Hydronephrosis, Hypoplasia of the zygomatic bone |
ORPHA:1340 |
Williams Syndrome |
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Carious teeth, Peripheral pulmonary artery stenosis, Abnormal dental enamel morphology, Hypercalc... |
ORPHA:904 |
Hypoglossia-Hypodactyly Syndrome |
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Micrognathia, Hypoplasia of the zygomatic bone |
ORPHA:989 |
Ablepharon Macrostomia Syndrome |
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Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplasia of penis |
ORPHA:920 |
Charge Syndrome |
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Horseshoe kidney, Hydronephrosis, Hypoplasia of the zygomatic bone, Delayed eruption of teeth, Mi... |
ORPHA:138 |