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Gene: Chrm3 MGI:88398

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cholinergic receptor, muscarinic 3, cardiac
Synonyms:
Chrm-3,  muscarinic acetylcholine receptor 3,  M3R

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Chrm3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Chrm3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Prune Belly Syndrome
Xerostomia, Hydroureter, Oligohydramnios, Hydronephrosis, Slow pupillary light response, Congenit... OMIM:100100
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,... ORPHA:2970

The table below shows human diseases predicted to be associated to Chrm3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Megacystis, Recurrent urinary tract infections, Oligohydramnios, Nephrolithiasis, Hypo... OMIM:619365
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Short Stature Due To Ghsr Deficiency
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... ORPHA:314811
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Oligohydra... ORPHA:105
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... ORPHA:411593
Adrenomyodystrophy
Abnormality of the urinary system, Failure to thrive, Megacystis, Megalocornea, Primary adrenal i... ORPHA:977
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Intestinal Botulism
Xerostomia, Mydriasis, Diarrhea, Dysphagia ORPHA:178481
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic k... OMIM:191800
Iatrogenic Botulism
Mydriasis, Xerostomia, Urinary retention, Constipation, Dysphagia ORPHA:254509
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Failure to thrive, Megacystis, Constipation, Polyuria, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Failure to thrive, Megacystis, Constipation, Polyuria, Hypertonic dehydration OMIM:304800
Inhalational Botulism
Mydriasis, Diarrhea, Xerostomia, Urinary retention, Constipation ORPHA:254504
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Aids Wasting Syndrome
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration, Anorexia ORPHA:90081
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Botulism
Mydriasis, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysphagia ORPHA:1267
Riboflavin Deficiency
Hypothermia, Hypoglycemia OMIM:615026
Mody
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... ORPHA:552
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... OMIM:600955
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H... OMIM:232700
Foodborne Botulism
Mydriasis, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysphagia ORPHA:228371
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Hypoglycemia OMIM:610006
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... ORPHA:171706
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Pigmentary retinopathy, Vitreous inflammatory cells, Mar... ORPHA:284454
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Adrenocorticotropi... ORPHA:100083
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Wound Botulism
Mydriasis, Constipation, Dysphagia, Urinary retention ORPHA:178475
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ... OMIM:262400
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Mantle Cell Lymphoma
Fever, Weight loss, Splenomegaly, Anorexia ORPHA:52416
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas... ORPHA:438274
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Oligohydramnios, Hydroureter, Megacystis OMIM:619431
Infant Botulism
Mydriasis, Xerostomia, Constipation, Keratoconjunctivitis sicca, Anorexia, Dysphagia, Bowel incon... ORPHA:178478
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Visceral Myopathy 2
Gastroesophageal reflux, Megacystis, Gastroparesis, Esophagitis, Ineffective esophageal peristals... OMIM:619350
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... OMIM:606762
Toxin-Mediated Infectious Botulism
Mydriasis, Constipation, Dysphagia ORPHA:230800
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter, Polyhydramnios ORPHA:1450
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, C... ORPHA:84085
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... ORPHA:324575
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Visceral Myopathy 1
Vomiting, Diarrhea, Urinary retention, Megacystis, Gastroparesis, Vesicoureteral reflux, Hydronep... OMIM:155310
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul... ORPHA:71526
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Inflammatory Pseudotumor Of The Liver
Fever, Biliary tract abnormality, Neoplasm of the liver, Cirrhosis, Weight loss, Diabetes mellitu... ORPHA:90003
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Renal cortical hyperechogenicity, Mydriasis, Anuria, Megacystis, Pyelonephritis, Oligohydramnios,... OMIM:619351
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:95717
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Failure to thrive, Hyperhidrosis, Hypoglycemia OMIM:245400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276580
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Constipati... OMIM:236730
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Undifferentiated Pleomorphic Sarcoma
Weight loss, Fever, Abnormal peritoneum morphology, Anorexia ORPHA:2023
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract ORPHA:39044
Pulmonary Blastoma
Weight loss, Fever ORPHA:64741
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Failure to thrive, Hypoglycemia OMIM:606528
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... ORPHA:276575
Spastic Paraplegia 83, Autosomal Recessive
Dysphagia, Urinary urgency OMIM:619027
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Cherubism
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Solitary Fibrous Tumor
Fever, Hypoglycemia, Recurrent hypoglycemia, Neoplasm of the liver, Weight loss, Abnormal periton... ORPHA:2126
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:95716
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Polyhydramnios, Hypoperistalsis ORPHA:2241
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... ORPHA:226313
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia OMIM:610947
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut... ORPHA:435651
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in... ORPHA:276556
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Failure to thrive, ... OMIM:617872
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Serotonin Syndrome
Mydriasis, Diarrhea, Hyperhidrosis, Nausea, Restlessness, Agitation ORPHA:43116
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Hypertriglyceridemia, Reduced subcutaneous... ORPHA:280356
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Polydipsia ORPHA:30925
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula... OMIM:275000
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Cat-Eye Syndrome
Chorioretinal coloboma, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney... ORPHA:195
Familial Visceral Myopathy
Hyperparathyroidism, Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Timothy Syndrome
Hypothyroidism, Hypothermia, Hypoglycemia OMIM:601005
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul... ORPHA:90674
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Miller Fisher Syndrome
Mydriasis, Vomiting, Dysphagia, Anisocoria ORPHA:98919
Prune Belly Syndrome
Xerostomia, Hydroureter, Oligohydramnios, Hydronephrosis, Slow pupillary light response, Congenit... OMIM:100100
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fever, Splenomegaly, Weight loss, Hyperhidrosis, Anorexia, Hepatomegaly ORPHA:86893
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age OMIM:300076
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Spastic Paraplegia 31, Autosomal Dominant
Dysphagia, Urinary urgency OMIM:610250
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Hypothermia... ORPHA:226307
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis OMIM:620195
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Spastic Paraplegia 72A, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:615625
Central Diabetes Insipidus
Diarrhea, Polydipsia, Dehydration, Anorexia ORPHA:178029
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Hypoglycemi... OMIM:251880
Familial Cold Urticaria
Conjunctivitis, Polydipsia, Hyperhidrosis, Dehydration ORPHA:47045
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, F... ORPHA:35878
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Renal agenesis, Ureterocele, Megacystis, Xerostomia, Decreased response to growth ho... OMIM:604292
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Alternating Hemiplegia Of Childhood
Mydriasis, Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Dehydration, Aggressive behavior, Const... ORPHA:2131
Megabladder, Congenital
Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys OMIM:618719
Glucocorticoid Deficiency 1
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... OMIM:202200
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:913
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... ORPHA:90673
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Brain-Lung-Thyroid Syndrome
Failure to thrive, Megacystis, Congenital hypothyroidism, Vesicoureteral reflux, Compensated hypo... ORPHA:209905
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Recurrent hypoglycemia, Hypothermia, Lipid accumulation in hepatocytes, Weight loss, Nonke... ORPHA:20
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hypoketotic hypoglycemia, Obesity, Hypothermia, Hepa... ORPHA:26793
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:605280
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Metachromatic Leukodystrophy
Mental deterioration, Gallbladder dysfunction, Cholecystitis, Decreased nerve conduction velocity OMIM:250100
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia ORPHA:230
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hypoglycemia, Hypothermia, Macrovesicular hepatic steatosis, Bile duct prolife... OMIM:618329
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Fever, Hypoglycemia, Recurrent fever, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol ... OMIM:201910
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Oligohydramnios, Hydroureter, Fetal megacystis OMIM:249210
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Reduced subcutaneous adipose tissue, Cachexia, Weight loss, Lipodystrop... ORPHA:1979
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Failure to thrive in infancy, Vesicoureteral reflux ORPHA:85285
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Meningococcal Meningitis
Fever, Increased circulating procalcitonin concentration, Hypothermia, Anorexia ORPHA:33475
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Diarrhea 13
Hepatic steatosis, Failure to thrive, Recurrent hypoglycemia OMIM:620357
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hyperhidrosis, Hypoglycemia ORPHA:231147
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... OMIM:614736
Pituitary Apoplexy
Mydriasis, Increased circulating cortisol level, Increased circulating prolactin concentration, H... ORPHA:95613
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Erythrokeratodermia Variabilis
Weight loss, Diabetes mellitus ORPHA:317
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607152
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Arachnoid Cyst
Urinary incontinence, Nausea, Mydriasis, Urinary bladder sphincter dysfunction ORPHA:2356
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Hypothermia, Fasting hypoglycemia ORPHA:159
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Hyperlipidemia, Increased hep... ORPHA:369
3-Methylcrotonyl-Coa Carboxylase Deficiency
Failure to thrive in infancy, Hypoglycemia ORPHA:6
Smooth Muscle Dysfunction Syndrome
Mydriasis, Hypoperistalsis OMIM:613834
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604805
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Spontaneous Periodic Hypothermia
Hypothermia, Hyperhidrosis ORPHA:29822
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... ORPHA:293987
Spastic Paraplegia 8, Autosomal Dominant
Urinary incontinence, Dysphagia, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:603563
Cocaine Intoxication
Acute kidney injury, Vomiting, Mydriasis, Hematuria, Proteinuria, Pulmonary edema, Nausea, Glomer... ORPHA:90068
Alexander Disease
Precocious puberty, Self-injurious behavior, Failure to thrive, Hypothermia, Hypothyroidism, Hype... ORPHA:58
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... ORPHA:103918
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Decreased body weight, Hyperhidrosis, Neonatal hypoglycemia, Small for gestational age ORPHA:231140
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Familial Glucocorticoid Deficiency
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... ORPHA:361
Bullous Pemphigoid
Weight loss, Diabetes mellitus ORPHA:703
N-Acetylglutamate Synthase Deficiency
Aggressive behavior, Hypothermia, Failure to thrive, Anorexia OMIM:237310
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Abnormal circulating leptin co... ORPHA:2298
Intellectual Disability-Alacrima-Achalasia Syndrome
Aggressive behavior, Anisocoria, Achalasia, Dysphagia ORPHA:289483
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Abnormality of adrenal physiology, Anisocoria, Achalasia OMIM:300858
8P23.1 Duplication Syndrome
Hydronephrosis, Adrenal insufficiency ORPHA:251076
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Orthostatic Hypotension 1
Intermittent hypothermia, Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Galactokinase Deficiency
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Hepa... ORPHA:79237
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Pituitary adenoma, Graves disease, Hepatitis, Hypoglycemia, Adrenocorti... ORPHA:199299
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Primary Erythromelalgia
Hypothermia ORPHA:90026
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency, Obesity OMIM:615996
Scorpion Envenomation
Acute kidney injury, Diarrhea, Ketonuria, Glycosuria, Vomiting, Mydriasis, Pulmonary edema, Hyper... ORPHA:466677
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Astigmatism, Cataract OMIM:615986
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen... OMIM:613239
Progressive Nodular Histiocytosis
Cachexia, Fever ORPHA:158022
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux, Nonimmune hydrops fetalis, Decreased body weight OMIM:618265
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Aredyld Syndrome
Type I diabetes mellitus, Abnormal dental enamel morphology, Type II diabetes mellitus, Splenomeg... ORPHA:1133
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating hormone concentratio... ORPHA:94086
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... ORPHA:1332
Autosomal Dominant Spastic Paraplegia Type 13
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100994
2P21 Microdeletion Syndrome
Hypogonadism, Failure to thrive, Hypoglycemia ORPHA:163693
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Pediatric-Onset Graves Disease
Diarrhea, Polydipsia, Graves disease, Keratitis, Oligohydramnios, Increased circulating free T3, ... ORPHA:525731
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia ORPHA:2089
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Fever, Hypoglycemia OMIM:620137
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Hyperhidrosis, Decreased body weight ORPHA:1672
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia, Inguinal hernia, Joint contracture OMIM:614498
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Spinocerebellar Ataxia Type 25
Vomiting, Urinary urgency ORPHA:101111
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:600363
Cystinosis
Vomiting, Polydipsia, Hypothyroidism, Corneal opacity, Motor stereotypy, Dehydration ORPHA:213
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Reticular Dysgenesis
Fever, Weight loss, Aplasia/Hypoplasia of the thymus, Failure to thrive ORPHA:33355
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Hypoglycemia, Hepatic steatosis, Hypothermia, Aggressive behavior, Hyperhidros... ORPHA:17
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Congenital Myopathy 19
Hydronephrosis, Renal atrophy, Dysphagia OMIM:618578
Nephronophthisis 3
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... OMIM:604387
Microcoria, Congenital
Miosis, Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections OMIM:619218
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity, Enuresis OMIM:613670
Flynn-Aird Syndrome
Cachexia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gland ORPHA:2047
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Hemochromatosis, Type 4
Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc... OMIM:606069
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gestational age, Pancreatic isl... ORPHA:263455
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Failure to thrive, Decreased response to growth hormone stimulation te... OMIM:609757
Osteopetrosis, Autosomal Recessive 5
Ascites, Mydriasis OMIM:259720
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss, Dysphagia ORPHA:2198
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Somatostatinoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97283
Familial Pancreatic Carcinoma
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... ORPHA:1333
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Renal duplication, ... ORPHA:79403
Achalasia, Familial Esophageal
Xerostomia, Keratoconjunctivitis sicca, Achalasia OMIM:200400
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Anorexia, Cirrhosis, Pancreatitis, Weight loss, Acholi... ORPHA:65682
Spastic Paraplegia 3, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182600
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Polyhydramnios, Fetal megacystis OMIM:619362
Al-Gazali Syndrome
Failure to thrive, Polyhydramnios, Hydronephrosis, Corneal opacity, Sclerocornea OMIM:609465
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607565
Xq28 (MECP2) duplication
Gastroesophageal reflux, Functional abnormality of the bladder, Failure to thrive, Constipation, ... DECIPHER:45
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a... OMIM:151660
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Elbow flexion contracture, Obesity, Hypothermia, Hip contracture, Abnormality of temperatu... OMIM:618493
Acth Deficiency, Isolated
Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena... OMIM:201400
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad... ORPHA:95496
Multicentric Reticulohistiocytosis
Cachexia, Fever ORPHA:139436
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Beta-Ketothiolase Deficiency
Fever, Hypoglycemia, Hyperglycemia, Oral aversion, Weight loss, Anorexia, Hepatomegaly, Agitation ORPHA:134
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:613096
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Umbilical hernia, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Reduced ... OMIM:608594
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Lipoatrophy, Increased adipose tissue around the... ORPHA:280365
Familial Hyperaldosteronism Type I
Nausea, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Mu-Heavy Chain Disease
Hepatomegaly, Fever, Weight loss, Splenomegaly ORPHA:100024
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Sepsis In Premature Infants
Temperature instability, Fever, Splenomegaly, Hypothermia, Decreased body weight, Hepatomegaly, J... ORPHA:90051
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:613550
Helix Syndrome
Hyperparathyroidism, Xerostomia, Polydipsia, Hypohidrosis, Anhidrosis OMIM:617671
Classic Hodgkin Lymphoma
Fever, Splenomegaly, Weight loss, Hyperhidrosis, Anorexia, Hepatomegaly ORPHA:391
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Oligohydramnios, Renal hyp... ORPHA:2973
Follicular Lymphoma
Fever, Weight loss, Splenomegaly, Abnormal peritoneum morphology ORPHA:545
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Short Syndrome
Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Weight loss, Lipodystroph... ORPHA:3163
Laron Syndrome
Hypoglycemia, Hypohidrosis, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality o... ORPHA:633
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... OMIM:218700
Wolman Disease
Fever, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Hepatomegaly, Steato... ORPHA:75233
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Astigmatism OMIM:619797
Post-Traumatic Pituitary Deficiency
Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease... ORPHA:95619
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp... ORPHA:465508
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Pfapa Syndrome
Hepatomegaly, Weight loss, Abnormality of temperature regulation, Splenomegaly ORPHA:42642
Lethal Congenital Contracture Syndrome 2
Hydronephrosis, Polyhydramnios, Edema OMIM:607598
Hypercalcemia, Infantile, 1
Weight loss, Decreased circulating parathyroid hormone level, Failure to thrive OMIM:143880
Wolfram Syndrome 1
Cataract, Hydroureter, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Dysphagia OMIM:222300
Trisomy 13
Cataract, Abnormality of the ureter, Aplasia/Hypoplasia of the iris, Displacement of the urethral... ORPHA:3378
Huntington Disease
Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho... ORPHA:399
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract, Gastrointestinal hemorrhage, Intestinal o... ORPHA:873
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Small f... OMIM:615935
Zellweger Syndrome
Cataract, Multicystic kidney dysplasia, Failure to thrive, Primary adrenal insufficiency, Hydrone... ORPHA:912
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Cholelithiasis, Small for gestational age OMIM:618775
Huntington Disease-Like 2
Weight loss ORPHA:98934
Nephronophthisis 9
Polydipsia OMIM:613824
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... OMIM:613027
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Hyperhidrosis ORPHA:2151
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremic dehydration, Constipation, Anorexia, Polyhydramnios ORPHA:223
Estrogen Resistance
Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc... OMIM:615363
Neuromyelitis Optica Spectrum Disorder
Nausea, Functional abnormality of the bladder ORPHA:71211
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Webb-Dattani Syndrome
Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Obesity, Vesicour... OMIM:615926
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Developmental cataract, Myopic astigmatism OMIM:620141
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Menkes Disease
Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilical hernia, Inguinal hernia, Hy... ORPHA:565
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Gastroesophageal reflux, Abnormality of the ureter, Oligohydra... ORPHA:1834
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, R... OMIM:269700
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:424
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ascites, Pleural effusion, Polyhydramnios, Hydronephrosis, Micropenis, Hydrops fetalis, Hypospadi... OMIM:616897
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Increased circulating cortisol level, Increased circulating ACTH level... ORPHA:97287
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia ORPHA:50251
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Spastic Paraplegia 29, Autosomal Dominant
Vomiting, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency OMIM:609727
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hypothermia, Failure to thrive, Hypoglycemia ORPHA:79282
Familial Hyperaldosteronism Type Iii
Nausea, Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:251274
Acute Adrenal Insufficiency
Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating ACTH level, Primar... ORPHA:95409
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive OMIM:613735
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Decreased ... ORPHA:199296
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Failure to thriv... ORPHA:99885
Yao Syndrome
Diarrhea, Xerostomia, Nephrolithiasis, Weight loss, Keratoconjunctivitis sicca, Uveitis OMIM:617321
Distal Duplication 6P
Hydronephrosis, Cataract, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Hypothyroidism, Anorexia, Pedal edema, Uveitis ORPHA:3452
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatic steatosis, Cachexia, Distal arthrogryposis, Hepatomegaly ORPHA:42
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
Spastic Paraplegia 10, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:604187
Spastic Paraplegia 11, Autosomal Recessive
Urinary bladder sphincter dysfunction, Obesity, Urinary incontinence, Dysphagia, Urinary urgency OMIM:604360
Hemochromatosis, Neonatal
Hepatic fibrosis, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neonat... OMIM:231100
Spastic Paraplegia 4, Autosomal Dominant
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:182601
Addison Disease
Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, Hypoglycemia, Adren... ORPHA:85138
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Oligohydramnios, Increased ... OMIM:618494
Renpenning Syndrome
Cachexia, Diabetes mellitus ORPHA:3242
Lower Urinary Tract Obstruction, Congenital
Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U... OMIM:618612
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... ORPHA:97280
Plague
Inflammation of the large intestine, Diarrhea, Vomiting, Mydriasis, Conjunctival hyperemia, Enter... ORPHA:707
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Vomiting, Aplasia of ... ORPHA:158684
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Polyhydramnios, Astigmatism, Hydronephrosis, Micropenis, Corneal opacity, ... OMIM:301056
Spastic Paraplegia 16, X-Linked
Urinary incontinence, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:300266
Familial Dysautonomia
Gastroesophageal reflux, Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Gl... ORPHA:1764
Panhypophysitis
Secondary growth hormone deficiency, Polydipsia, Adrenocorticotropin deficient adrenal insufficie... ORPHA:95513
Congenital Enterovirus Infection
Cholestasis, Fever, Hypothermia, Hepatitis ORPHA:292
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insufficiency, Splen... ORPHA:2905
Immunodeficiency 27A
Fever, Hepatosplenomegaly, Splenomegaly, Weight loss, Anorexia OMIM:209950
Autosomal Dominant Spastic Paraplegia Type 73
Urinary incontinence, Urinary urgency ORPHA:444099
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Menkes Disease
Hypothermia OMIM:309400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Hypoglycemia, Fever, Abnormal circulating androgen level, Increased circulatin... ORPHA:90790
Riboflavin Transporter Deficiency
Hypogonadism, Aggressive behavior, Cachexia, Diabetes insipidus, Dysphagia ORPHA:97229
Bickerstaff Brainstem Encephalitis
Mydriasis, Anisocoria ORPHA:79138
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly ORPHA:5
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... ORPHA:49041
Acute Monoblastic/Monocytic Leukemia
Weight loss, Central hypothyroidism, Fever, Anorexia ORPHA:514
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Focal Myositis
Weight loss, Fever ORPHA:48918
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... ORPHA:99819
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Polydipsia OMIM:613677
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Progressive psychomotor deterioration, Decreased nerve conduction velocity, Sh... ORPHA:309271
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Oculopharyngodistal Myopathy
Weight loss, Impaired oropharyngeal swallow response, Oral-pharyngeal dysphagia ORPHA:98897
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
East Syndrome
Hyperaldosteronism, Salt craving, Polydipsia ORPHA:199343
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno... ORPHA:79404
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Anor... ORPHA:100080
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Chronic constipation OMIM:618060
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... ORPHA:97278
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Pancreatitis, Hereditary
Fever, Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Di... OMIM:167800
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Failure to thrive, Hypothermia, Hepatomegaly, Dysphagia ORPHA:255210
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Alagille Syndrome
Keratoconus, Failure to thrive, Abnormality of the ureter, Abnormal pupil morphology, Renal hypop... ORPHA:52
Achalasia-Addisonianism-Alacrima Syndrome
Adrenal insufficiency, Decreased circulating cortisol level, Decreased circulating aldosterone le... OMIM:231550
Primary Unilateral Adrenal Hyperplasia
Nausea, Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:231580
Hirschsprung Disease
Failure to thrive in infancy, Neoplasm of the thyroid gland, Weight loss ORPHA:388
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Hec Syndrome
Polyhydramnios, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Woolly Hair
Cataract, Abnormal pupil morphology ORPHA:170
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... OMIM:310600
Tbck-Related Intellectual Disability Syndrome
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Hypothermia... ORPHA:488632
Joubert Syndrome 37
Hydronephrosis, Obesity, Micropenis OMIM:619185
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Anaplastic Thyroid Carcinoma
Goiter, Weight loss, Dysphagia, Nodular goiter, Anaplastic thyroid carcinoma ORPHA:142
Noonan Syndrome 4
Large for gestational age, Hydronephrosis, Blue irides, Polyhydramnios, Ureteral duplication OMIM:610733
Johanson-Blizzard Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Hydronephrosis, Hypoplasia of penis, Hyposp... ORPHA:2315
Leishmaniasis
Recurrent fever, Splenomegaly, Weight loss, Anorexia, Hepatomegaly ORPHA:507
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr... ORPHA:314588
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Urinary bladder sphincter dysfunction ORPHA:306511
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Polyphagia, Weigh... ORPHA:95427
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency ORPHA:320365
Pseudomyxoma Peritonei
Hernia, Weight loss, Abnormal peritoneum morphology ORPHA:26790
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Abnormal circulating aldosterone, Failure to thrive in infancy, Glucocortocoid-in... ORPHA:171876
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... ORPHA:905
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypogonadotropic hypogonadism, Cachexia, Cirrhosis, Weight loss, Macrovesicular hepatic steatosis... ORPHA:298
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Nausea, Polydipsia ORPHA:369929
Microphthalmia, Lenz Type
Iris coloboma, Cataract, Microcornea, Hydroureter, Chorioretinal coloboma, Renal hypoplasia/aplas... ORPHA:568
Igg4-Related Aortitis
Hydronephrosis, Weight loss, Intestinal obstruction ORPHA:449400
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Septo-Optic Dysplasia Spectrum
Hypohidrosis, Polydipsia, Constipation ORPHA:3157
Trisomy 17P
Cataract, Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Ureth... ORPHA:261290
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Fatal Familial Insomnia
Fever, Weight loss, Dysphagia, Hyperhidrosis OMIM:600072
Takayasu Arteritis
Fever, Weight loss, Hyperhidrosis, Anorexia ORPHA:3287
Allergic Bronchopulmonary Aspergillosis
Low-grade fever, Weight loss ORPHA:1164
Marburg Hemorrhagic Fever
Fever, Hypoglycemia, Hypothermia, Orchitis, Aggressive behavior, Pancreatitis, Anorexia, Jaundice ORPHA:99826
Spastic Paraplegia 30, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:610357
Suleiman-El-Hattab Syndrome
Hydronephrosis, Failure to thrive OMIM:618950
Silver-Russell Syndrome
Premature adrenarche, Insulin resistance, Precocious puberty, Recurrent hypoglycemia, Failure to ... ORPHA:813
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Hypothermia, Dysphagia, Anhidrosis, Decreased sweating due to autonomic ... ORPHA:99027
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Failure to thrive, Weight loss, Delayed puberty, Enamel hypoplasia, Ste... OMIM:212750
Grfoma
Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,... ORPHA:97261
Bardet-Biedl Syndrome 12
Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia OMIM:615989
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Infantile Nephropathic Cystinosis
Vomiting, Polydipsia, Abnormal cornea morphology, Corneal crystals, Abnormality of thyroid physio... ORPHA:411629
Christianson Syndrome
Arthrogryposis multiplex congenita, Inappropriate laughter, Cachexia, Dysphagia, Motor stereotypy ORPHA:85278
Branchio-Oculo-Facial Syndrome
Cataract, Multicystic kidney dysplasia, Microcornea, Renal agenesis, Hydronephrosis, Iris coloboma ORPHA:1297
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity OMIM:620511
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Chorioretinal coloboma, Horseshoe kidney, Crossed fused renal ectopia, Ves... ORPHA:959
Unilateral Ocular Duplication
Polyhydramnios, Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Vomiting OMIM:300048
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney, Polyhydramnios OMIM:314390
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney, Dehydration ORPHA:634
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Reduced subcutaneous adipo... OMIM:609069
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Glycosuria, Hypoglycemia, Large for gestational age, Hepatomegaly, Diabetes mellitus OMIM:616026
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Teratoma, Pineal
Polydipsia OMIM:273120
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fever, Hepatosplenomegaly, Weight loss, Panniculitis ORPHA:86884
Juvenile Huntington Disease
Weight loss, Hyperactivity ORPHA:248111
Alexander Disease Type I
Cachexia, Dysphagia, Failure to thrive ORPHA:363717
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Decreased response to growt... OMIM:180500
Rhabdoid Tumor
Neoplasm of the liver, Weight loss, Fever ORPHA:69077
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Abnormal u... ORPHA:85450
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Decreased nerve conduction velocity, Short attention span,... ORPHA:309263
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Fasting hypoglycemia, Hepatomega... OMIM:261680
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Hyperhidrosis ORPHA:99868
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias, Decreased response to growth hormone stimulation test OMIM:220210
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis, Failure to thrive ORPHA:488613
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Anor... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Weight loss, Carcinoid tumor, Anor... ORPHA:100082
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Alexander Disease
Microcoria OMIM:203450
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Polydipsia ORPHA:320
Nodular Non-Suppurative Panniculitis
Fever, Splenomegaly, Weight loss, Hepatomegaly, Panniculitis ORPHA:33577
Immunodeficiency 31C
Fever, Splenomegaly, Hypothyroidism, Delayed puberty, Weight loss, Hepatomegaly, Diabetes mellitus OMIM:614162
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Oligohydramnios, Hydronephrosis, Duplicated collecting system, Small for gesta... OMIM:617093
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Gastroesophageal reflux, Large for gestational age, Vesicoureteral reflux, Hydronephrosis, Bladde... OMIM:614080
Trisomy 1Q
Multicystic kidney dysplasia, Increased nuchal translucency, Hydronephrosis, Polyhydramnios, Cong... ORPHA:261344
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Vomiting, Failure to thrive, Oli... ORPHA:464311
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Diarrhea, Vomiting, Oligohydramnios, Renal insufficiency, Hydronephrosis, Long-chain di... OMIM:608836
Aromatic L-Amino Acid Decarboxylase Deficiency
Intermittent hypothermia, Temperature instability, Tongue thrusting, Hyperhidrosis OMIM:608643
ERI1-related disease
Failure to thrive, Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Small for gestat... OMIM:608739
Kury-Isidor Syndrome
Hydronephrosis, Astigmatism OMIM:619762
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Neuroendocrine neoplasm, Anorexia, Hepatic cysts, Intermittent jaundic... ORPHA:100085
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Weight loss, Fever ORPHA:33276
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
Erythermalgia, Primary
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Hyperhidrosis OMIM:133020
Mast Cell Sarcoma
Hepatomegaly, Weight loss, Splenomegaly ORPHA:66661
Pierson Syndrome
Cataract, Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Oligohy... OMIM:609049
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Neuroleptic Malignant Syndrome
Fever, Hypothermia, Hyperhidrosis, Dysphagia, Agitation ORPHA:94093
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Diabetic Embryopathy
Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia ORPHA:1926
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Increased circulating prolactin concentration, Panhypopituitarism, Hyperpituitarism, ... ORPHA:91351
Koolen-De Vries Syndrome
Cataract, Vesicoureteral reflux, Renal duplication, Hydronephrosis, Hypothyroidism, Ureteral dupl... ORPHA:96169
Baraitser-Winter Cerebrofrontofacial Syndrome
Microcornea, Hydroureter, Failure to thrive, Hydronephrosis, Abnormality of the upper urinary tra... ORPHA:2995
Spinocerebellar Ataxia 42
Urinary incontinence, Dysphagia, Urinary urgency OMIM:616795
3C Syndrome
Iris coloboma, Gastroesophageal reflux, Chorioretinal coloboma, Hydronephrosis, Hypoplasia of pen... ORPHA:7
Kleefstra Syndrome
Gastroesophageal reflux, Obesity, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Ren... ORPHA:261494
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Adrenal insufficiency, Hypohidrosis, Achalasia, Anisocoria, Dysphagia OMIM:615510
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Huntington Disease-Like 2
Weight loss OMIM:606438
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Peters anomaly, Failure to thrive, Corneal scarring, Vesicoureteral reflux, Hyd... OMIM:618460
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Failure to thrive, Chronic constipation OMIM:619179
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Gastroesophageal reflux, Hydronephrosis, Constipation, Hypospadias OMIM:616449
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Enuresis, Obesity, Encopresis, Decreased body weight, Constipa... ORPHA:589821
Adult Polyglucosan Body Disease
Urinary incontinence, Neurogenic bladder, Urinary bladder sphincter dysfunction ORPHA:206583
Narcolepsy Type 1
Obesity, Constipation, Nocturia ORPHA:2073
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Constipation, Fetal megacystis ORPHA:73246
Nephroblastoma
Neoplasm of the liver, Weight loss, Fever ORPHA:654
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Primary Myelofibrosis
Fever, Hepatosplenomegaly, Low-grade fever, Portal hypertension, Splenomegaly, Cachexia, Anorexia... ORPHA:824
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Hematuria, Prostatitis, Weight loss, Tubulointerstitial nephr... ORPHA:449395
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia OMIM:270150
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Pelvic kidney, Limbal dermoid OMIM:613001
Spastic Paraplegia 7, Autosomal Recessive
Urinary incontinence, Dysphagia, Urinary urgency, Urinary bladder sphincter dysfunction OMIM:607259
Klatskin Tumor
Fever, Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency ORPHA:320355
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Slender build, Hydronephrosis ORPHA:364028
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,... ORPHA:2473
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Urinary retention, Elevated urinary delta-aminolevulinic acid, Paralytic ileu... OMIM:176000
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
X-Linked Agammaglobulinemia
Cellulitis, Fever, Hepatitis, Failure to thrive, Weight loss ORPHA:47
Autosomal Recessive Spastic Paraplegia Type 15
Functional abnormality of the bladder, Pseudobulbar paralysis ORPHA:100996
Majeed Syndrome
Failure to thrive, Fever, Splenomegaly, Cachexia, Weight loss, Hepatomegaly, Flexion contracture ORPHA:77297
Hereditary Sensory And Autonomic Neuropathy Type 4
Unexplained fevers, Atypical scarring of skin, Recurrent fever, Fasciitis, Corneal scarring, Hypo... ORPHA:642
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice OMIM:266200
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telangiectasia, Gastrointestinal ... ORPHA:774
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Oligohydramnios, Vesicoureteral reflux, Hydronephrosis, Micropenis, Anisocoria, Pelvic k... OMIM:618653
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Flexion contracture ORPHA:157973
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis OMIM:614846
Rett Syndrome
Failure to thrive, Increased serum leptin, Bruxism, Cholecystitis, Stereotypical hand wringing, M... ORPHA:778
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Failure to thrive, Hydronephrosis, Polyhydramnios, Edema OMIM:302960
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Hydronephrosis, Sclerocornea, ... OMIM:243605
Occipital Horn Syndrome
Atypical scarring of skin, Keloids, Hepatitis, Cholestasis, Inguinal hernia, Hypothermia, Hiatus ... ORPHA:198
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Cataract, Failure to thrive, Opacification of the corneal stroma, Hydronephrosis, ... OMIM:214100
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Urinary urgency ORPHA:100989
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Hernia, Weight loss, Failure to thrive ORPHA:1842
Cryptogenic Organizing Pneumonia
Weight loss, Fever, Anorexia ORPHA:1302
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction ORPHA:3115
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Cirrhosis, Failure to thrive, Hypoglycemia OMIM:617049
Duane-Radial Ray Syndrome
Cataract, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesico... OMIM:607323
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Fever, Hypoglycemia OMIM:229700
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Osteosarcoma
Weight loss, Fever ORPHA:668
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... OMIM:620367
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Fever, Abnormality of the pancreas, Liver abscess ORPHA:54251
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Micro Syndrome
Cataract, Microcornea, Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis ORPHA:2510
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cholelithiasis, Type I diabetes mellitus, Hepatitis, Fever, Cholestasis, Hepato... ORPHA:171
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Fever, Cholestasis... ORPHA:53035
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Polydipsia, Pancreatitis, Conjunctivitis, Dysphagia, Corneal erosion ORPHA:537
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Precocious puber... ORPHA:90794
Spastic Paraplegia 15, Autosomal Recessive
Urinary incontinence, Urinary urgency, Bowel incontinence, Urinary bladder sphincter dysfunction OMIM:270700
Non-Functioning Paraganglioma
Weight loss, Paraganglioma, Episodic hyperhidrosis, Paraganglioma of head and neck ORPHA:94080
1Q21.1 Microdeletion Syndrome
Cataract, Failure to thrive, Vesicoureteral reflux, Hydronephrosis, Iris coloboma ORPHA:250989
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Vomiting, Failure to thrive, Oli... ORPHA:464306
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Erdheim-Chester Disease
Pleural effusion, Renal insufficiency, Joint swelling, Hydronephrosis, Weight loss, Hyperhidrosis... ORPHA:35687
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Failure to thrive, Recurrent urinary tract infections, Vesicoure... OMIM:610443
Parathyroid Carcinoma
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Polydip... ORPHA:143
Mosaic Trisomy 9
Horseshoe kidney, Oligohydramnios, Hydronephrosis, Multiple renal cysts, Corneal opacity, Polyhyd... ORPHA:99776
Small Cell Carcinoma Of The Bladder
Hematuria, Dysuria, Recurrent urinary tract infections ORPHA:284400
Hyperparathyroidism, Neonatal Severe
Constipation, Polydipsia, Primary hyperparathyroidism OMIM:239200
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, O... ORPHA:49
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Renal agenesis, Ureterocele, Xerostomia, Decreased response to growth hormone stimul... OMIM:129900
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Increased circulating ACTH level, Atypical pulmonary carcinoid tumor, ... ORPHA:100075
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Renal insufficiency, Hydronephrosis, Hypospadias, Hemolytic-uremic ... OMIM:611209
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Lymphedema, Horseshoe kidney, Pericardial effusion, Vesicoureteral reflux, Pleural effusion, Noni... OMIM:235510
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Fever, Weight loss, Splenomegaly ORPHA:3226
Fryns Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis, Cor... ORPHA:2059
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Edema, Hydronephrosis, Polycystic kidney dysplasia, Pedal edema OMIM:236700
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss, Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas ORPHA:83469
Carpenter Syndrome 1
Microcornea, Hydroureter, Obesity, Hydronephrosis, Opacification of the corneal stroma OMIM:201000
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Urinary urgency OMIM:612319
Idiopathic Bronchiectasis
Cachexia, Fever ORPHA:60033
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gastroesophageal reflux, Failure to thrive, Increased nuchal translucency, Vesicoureteral reflux,... ORPHA:453499
Cat Eye Syndrome
Renal agenesis, Chorioretinal coloboma, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, ... OMIM:115470
Polymyositis
Chondrocalcinosis, Fever, Weight loss, Anorexia, Hepatomegaly ORPHA:732
Patent Urachus
Recurrent urinary tract infections, Cystocele, Patent urachus, Congenital posterior urethral valv... ORPHA:431341
Spinocerebellar Ataxia 25
Vomiting, Urinary urgency OMIM:608703
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Graves disease, Obesity, Weight loss, Hyperhidrosis, Hyperthyroidism,... ORPHA:79102
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Salt craving, Polydipsia OMIM:612780
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Cataract OMIM:620327
Eec Syndrome
Xerostomia, Keratitis, Decreased response to growth hormone stimulation test, Vesicoureteral refl... ORPHA:1896
Tarp Syndrome
Horseshoe kidney, Oligohydramnios, Hydronephrosis, Failure to thrive OMIM:311900
Knobloch Syndrome 1
Band keratopathy, Bifid ureter, Lens subluxation, Chorioretinal atrophy, Renal duplication, Hydro... OMIM:267750
Ethylene Glycol Poisoning
Addictive alcohol use, Hypothermia ORPHA:31826
Sarcoidosis
Fever, Parotitis, Portal hypertension, Hypothermia, Abnormality of the adrenal glands, Hypothyroi... ORPHA:797
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Horseshoe kidney, Astigmatism, Nephrolithiasis, Hydronephr... ORPHA:2953
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro... OMIM:300707
Nephronophthisis 4
Polydipsia OMIM:606966
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a... OMIM:606721
Congenital Myopathy 17
Renal hypoplasia, Failure to thrive in infancy, Ureteropelvic junction obstruction, Hydronephrosi... OMIM:618975
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Cataract, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal arter... OMIM:617913
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum, Joint swelling ORPHA:2976
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Autosomal Dominant Spastic Paraplegia Type 3
Urinary urgency ORPHA:100984
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Gastroesophageal reflux, Ectopia lentis, Chorioretinal coloboma, Hy... ORPHA:2092
Autosomal Dominant Spastic Paraplegia Type 37
Urinary urgency ORPHA:171612
Spastic Paraplegia Type 2
Bowel incontinence, Spastic/hyperactive bladder ORPHA:99015
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Urinary retention ORPHA:2795
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Facial Spasm
Anisocoria OMIM:134300
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Incr... ORPHA:99889
Foix-Alajouanine Syndrome
Functional abnormality of the bladder, Urinary retention, Neurogenic bladder, Urinary incontinenc... ORPHA:79093
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hematuria, Proximal renal tubular acidosis, Chorioretinal dysplasia, Aminoaciduria, ... ORPHA:534
Baller-Gerold Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, A... ORPHA:1225
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Gitelman Syndrome
Salt craving, Vomiting, Polydipsia, Constipation OMIM:263800
Hoxha-Aliu Syndrome
Hydronephrosis, Vesicoureteral reflux, Astigmatism OMIM:620662
Juvenile Nephropathic Cystinosis
Vomiting, Polydipsia, Abnormal cornea morphology, Corneal crystals, Hypothyroidism, Dehydration ORPHA:411634
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Renal insufficiency, Hyperuricosuria, Macroscopic hematuria, Ur... ORPHA:79233
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Hypoparath... ORPHA:2237
Czeizel-Losonci Syndrome
Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis ORPHA:2437
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Oligohydramnios OMIM:219100
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Oligohydramnios, Esophagitis, Hydronephrosis ORPHA:541423
Senior-Boichis Syndrome
Polydipsia, Ascites, Aggressive behavior, Attention deficit hyperactivity disorder, Agitation ORPHA:84081
Huntington Disease-Like 1
Weight loss, Restlessness ORPHA:157941
Eosinophilic Fasciitis
Cellulitis, Weight loss, Fasciitis ORPHA:3165
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Lymphedema, Ascites, Polyhydramnios, Hydronephrosis, Micropenis OMIM:235255
Pandas
Enuresis, Encopresis ORPHA:66624
Pelvis-Shoulder Dysplasia
Hydronephrosis, Microcornea, Iris coloboma ORPHA:2839
Distal Deletion 6P
Self-injurious behavior, Hypoplasia of the iris, Ectopia pupillae, Anterior synechiae of the ante... ORPHA:96125
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Fever ORPHA:411703
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hydronephrosis, Polyhydramnios, Dysphagia ORPHA:261349
Trichinellosis
Facial edema, Conjunctival hyperemia, Nausea, Anisocoria, Periorbital edema, Conjunctivitis, Abno... ORPHA:863
Autosomal Dominant Spastic Paraplegia Type 12
Urinary incontinence, Urinary urgency, Bowel incontinence ORPHA:100993
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Zaki Syndrome
Hydronephrosis, Renal agenesis OMIM:619648
Classic Pantothenate Kinase-Associated Neurodegeneration
Attention deficit hyperactivity disorder, Weight loss, Dysphagia ORPHA:216866
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Gastroesophageal reflux, Neurogenic bladder, Failure to thrive OMIM:608779
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastrointestinal hemorrhage, Abnormality of th... ORPHA:2869
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss, Fever ORPHA:79127
Spastic Paraplegia Type 7
Dysphagia, Urinary urgency ORPHA:99013
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss, Pancreatitis, Anorexia, Jaundice, Neoplasm of the pancreas ORPHA:370348
Polyarteritis Nodosa
Weight loss, Fever ORPHA:767
Carney-Stratakis Syndrome
Weight loss, Dysphagia, Paraganglioma ORPHA:97286
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Cataract, Microcornea ORPHA:35173
Duane Retraction Syndrome
Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... ORPHA:233
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Cholecystitis, Intermittent jaundice, Biliary tr... ORPHA:100086
Atypical Werner Syndrome
Chondrocalcinosis, Glycosuria, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Abn... ORPHA:79474
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hypothyroidism, Polydipsia, Abnormality of endocrine... ORPHA:93111
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Cataract, Vomiting, Diarrhea, Xerostomia, Anorexia OMIM:175500
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, ... OMIM:619487
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Trisomy 18
Cataract, Microcornea, Oligohydramnios, Hydronephrosis, Abnormality of the upper urinary tract, C... ORPHA:3380
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Ectopia pupillae, Sclerocornea, Hypospadias OMIM:615877
Familial Colorectal Cancer Type X
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Attention deficit hy... ORPHA:440437
Eosinophilic Gastroenteritis
Steatorrhea, Weight loss, Dysphagia ORPHA:2070
Congenital Fibrosis Of Extraocular Muscles
Cataract, Vomiting, Abnormal pupil shape, Slow pupillary light response, Miosis, Anisocoria ORPHA:45358
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Drug Reaction With Eosinophilia And Systemic Symptoms
Fever, Weight loss, Hepatitis, Thyroiditis ORPHA:139402
Cockayne Syndrome Type 3
Lentiglobus, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Hydroureter, U... ORPHA:90324
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Constipation, Dysuria, Dysphagia ORPHA:101000
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Cataract, Abnormality of thyroid physiology, Astigmatism, Hydronephrosis, Renal dysplasia OMIM:300968
Neuroblastoma
Elevated circulating catecholamine level, Weight loss, Fever ORPHA:635
Nephronophthisis 1
Polydipsia OMIM:256100
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis, Oligohydramnios, Shallow anterior chamber ORPHA:247262
Kabuki Syndrome
Abnormal localization of kidney, Microcornea, Failure to thrive, Crossed fused renal ectopia, Obe... ORPHA:2322
Triploidy
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas ORPHA:3376
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Gastroesophageal reflux ORPHA:457193
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Dementia, Memory impairment, Narcolepsy OMIM:604121
Pure Autonomic Failure
Urinary incontinence, Constipation, Dysuria ORPHA:441
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypothermia, Uterine prolapse,... ORPHA:438213
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias, Lymphedema OMIM:616737
Oligomeganephronia
Polydipsia, Dehydration ORPHA:2260
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Anorexia ORPHA:2930
Ketamine-Induced Biliary Dilatation
Dysuria ORPHA:293807
Oromandibular Dystonia
Bruxism, Weight loss, Dysphagia ORPHA:93958
Basel-Vanagaite-Smirin-Yosef Syndrome
Microcornea, Male urethral meatus stenosis, Hydronephrosis, Constipation, Developmental cataract,... ORPHA:464738
Amyotrophic Lateral Sclerosis
Xerostomia, Dysphagia, Fatigable weakness of bulbar muscles, Fatigable weakness of respiratory mu... ORPHA:803
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Knee flexion contracture ORPHA:3208
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency OMIM:617225
Mcdonough Syndrome
Cachexia ORPHA:2471
Perry Syndrome
Weight loss ORPHA:178509
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hepatosplenomegaly, Short attention span, Cholecystitis, EEG with central focal s... OMIM:301066
Alveolar Echinococcosis
Biliary cirrhosis, Fever, Abnormal mesentery morphology, Portal hypertension, Hepatic cysts, Abno... ORPHA:284
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:93260
Otopalatodigital Syndrome Type 2
Cataract, Failure to thrive, Ureteral obstruction, Hydronephrosis, Hypospadias, Developmental gla... ORPHA:90652
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ascites, Polyhydramnios, Hydronephrosis, Abnormal renal morphology, Micropenis ORPHA:1655
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Hyperaldosteronism, Polyhydramnios, Hydrops fetalis, Edema OMIM:602522
Q Fever
Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegal... ORPHA:781
Cystinosis, Nephropathic
Male hypogonadism, Polydipsia, Glycosuria, Failure to thrive, Exocrine pancreatic insufficiency, ... OMIM:219800
Ileal Neuroendocrine Tumor
Hydronephrosis, Weight loss, Episodic vomiting, Nausea, Intermittent diarrhea, Edema ORPHA:100078
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulation test, Panhypopitu... OMIM:146510
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Micropenis OMIM:612513
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Hip contracture OMIM:616801
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Vomiting, Diarrhea, Polydipsia, Dehydration ORPHA:47159
46,Xy Sex Reversal 4
Hydronephrosis, Ureteropelvic junction obstruction, Renal dysplasia OMIM:154230
Cardiofaciocutaneous Syndrome 1
Gastroesophageal reflux, Vomiting, Failure to thrive, Hydronephrosis, Constipation, Hyperhidrosis... OMIM:115150
Giant Cell Arteritis
Fever, Weight loss, Hyperhidrosis, Anorexia, Diabetes insipidus ORPHA:397
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Hypogonadism, Obesity, Inguinal hernia, Aggressive behavior, Cachexia, H... ORPHA:85293
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux, Corneal opacity ORPHA:96061
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia, Thyroid carcinoma, Hashimoto thyroiditis, Cachexia, Lipoma, Neoplasm of the adrenal... ORPHA:109
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Polydipsia, Constipation, Dehydration ORPHA:18
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Hypersplenism, Portal hypertension, Weight loss, Anorexia ORPHA:98850
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Proteus-Like Syndrome
Heterochromia iridis, Cataract, Abnormal pupil morphology, Limbal dermoid ORPHA:2969
Triosephosphate Isomerase Deficiency
Cholelithiasis, Congestive heart failure, Cholecystitis, Splenomegaly, Prolonged neonatal jaundic... OMIM:615512
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Self-injurious behavior, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Se... ORPHA:371364
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal... ORPHA:391641
Persistent Hyperplastic Primary Vitreous
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... ORPHA:91495
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Mitochondrial Complex I Deficiency, Nuclear Type 32
Vomiting, Patent urachus, Small for gestational age, Failure to thrive OMIM:618252
Gm1 Gangliosidosis
Failure to thrive, Camptodactyly of finger, Hepatosplenomegaly, Splenomegaly, Inguinal hernia, Or... ORPHA:354
Perry Syndrome
Weight loss, Inappropriate behavior, Disinhibition OMIM:168605
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss, Fever ORPHA:2902
Autosomal Dominant Spastic Paraplegia Type 19
Urinary urgency ORPHA:100999
Acute Promyelocytic Leukemia
Addictive alcohol use, Weight loss, Fever, Anorexia ORPHA:520
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Keratoconus, Gastrointestin... OMIM:225400
Holocarboxylase Synthetase Deficiency
Weight loss, Anorexia ORPHA:79242
Lymphoid Interstitial Pneumonia
Fever, Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly ORPHA:79128
Rheumatoid Arthritis
Weight loss, Fever OMIM:180300
Rabson-Mendenhall Syndrome
Hypothyroidism, Polydipsia ORPHA:769
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Ascites, Displacement of the urethral meatus, Leukocoria, Hypothyro... ORPHA:1556
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Anisocoria ORPHA:90658
Al Amyloidosis
Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Peripheral edema, Renal insufficiency, Pr... ORPHA:85443
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Cholecystitis, Abnormality of ... ORPHA:69665
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Polyhydramnios, Bladder diverticulum, Microcornea OMIM:614557
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Failure to thrive, Adrenal calcification, Hepatosplenomegaly, Primary adrenal i... ORPHA:275761
Au-Kline Syndrome
Chronic kidney disease, Gastroesophageal reflux, Dilatation of the renal pelvis, Failure to thriv... OMIM:616580
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, Renal agenesis, Hydronephrosis, Constipation, Micropenis, Hypospadias OMIM:301040
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Ureteral stenosis, Renal insufficiency, Intestinal obstruction, Hema... ORPHA:900
Malakoplakia
Diarrhea, Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urina... ORPHA:556
Vater/Vacterl Association
Renal agenesis, Failure to thrive, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hyd... OMIM:192350
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... ORPHA:91347
Cerebellar-Facial-Dental Syndrome
Hydronephrosis, Cataract, Ureteropelvic junction obstruction, Failure to thrive ORPHA:444072
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Gastroesophageal reflux ORPHA:85201
Glucose-Galactose Malabsorption
Fever, Weight loss, Failure to thrive ORPHA:35710
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Constipation, Pancreatitis, Dysphagia, Primary hyperparathyroidism ORPHA:99880
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hypospadias, Obesity, Astigmatism, Chronic constipation, Hydronephrosi... ORPHA:96121
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Micropenis, Pelvic kid... OMIM:258040
Distal Deletion 10Q
Acute kidney injury, Functional abnormality of the bladder, Failure to thrive, Horseshoe kidney, ... ORPHA:96148
Gitelman Syndrome
Diarrhea, Polydipsia, Graves disease, Hashimoto thyroiditis, Salt craving, Constipation, Hyperhid... ORPHA:358
Alg9-Cdg
Hypoplasia of the bladder, Diarrhea, Vomiting, Gastroesophageal reflux, Oligohydramnios, Abnormal... ORPHA:79328
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Cholecystitis, Abnormality of visual evoked potentials ORPHA:309256
Diffuse Alveolar Hemorrhage
Weight loss, Fever ORPHA:90060
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Ascites, Keratoconjunctivitis sicca, Dysphagia ORPHA:779
Malt Lymphoma
Fever, Abnormality of the thyroid gland, Weight loss, Hyperhidrosis ORPHA:52417
Williams Syndrome
Megalocornea, Posterior embryotoxon, Periorbital edema, Flat cornea, Cataract, Gastroesophageal r... ORPHA:904
Spastic Paraplegia 20, Autosomal Recessive
Dysphagia, Urinary urgency, Chronic constipation OMIM:275900
Agel Amyloidosis
Cataract, Xerostomia, Stage 5 chronic kidney disease, Blepharochalasis, Proteinuria, Keratoconjun... ORPHA:85448
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Hepatic cysts, Splenic cyst, Biliary tract obstruc... ORPHA:400
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Tachycardia, Jaundice, Diffuse alveolar hemorrhage, Bundle branch block, Hemothorax... ORPHA:99827
Wolfram Syndrome
Gastrointestinal hemorrhage, Constipation, Polydipsia ORPHA:3463
Microsporidiosis
Hepatitis, Abnormality of the parathyroid gland, Fever, Anorexia, Abnormality of the spleen, Bili... ORPHA:2552
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia OMIM:617994
Occipital Horn Syndrome
Hydronephrosis, Ureteral obstruction, Chronic diarrhea, Bladder diverticulum OMIM:304150
Monosomy 22Q13.3
Gastroesophageal reflux, Lymphedema, Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Hy... ORPHA:48652
Thymoma
Neoplasm of the thyroid gland, Weight loss, Fever ORPHA:99867
Postorgasmic Illness Syndrome
Xerostomia, Hyperhidrosis ORPHA:279947
Congenital Tufting Enteropathy
Cholestatic liver disease, Weight loss, Failure to thrive, Steatorrhea ORPHA:92050
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Gastroesophageal reflux, Ascites, Hydronephrosis, Periorbital edema OMIM:613177
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Tetrasomy 12P
Cachexia, Hypohidrosis ORPHA:884
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction ORPHA:320401
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Gastroesophageal reflux, Recurrent urinary tract infections, Hydronephrosis, Constipation, Abnorm... ORPHA:847
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Oculodentodigital Dysplasia, Autosomal Recessive
Cataract, Microcornea, Persistent pupillary membrane, Failure to thrive OMIM:257850
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Splenomegaly, Cachexia, Hypoth... ORPHA:37042
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma of head and n... ORPHA:29072
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Gastroesophageal reflux, Dilatation of the renal pelvis, Enuresis, Horseshoe k... OMIM:301111
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Pelvic kidney, Renal malrotation OMIM:601186
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria OMIM:619649
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Cataract, Pyelonephritis, Renal insufficiency, Hypoh... OMIM:181270
Systemic Capillary Leak Syndrome
Weight loss, Pancreatitis ORPHA:188
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis OMIM:620454
Neuroblastoma, Susceptibility To, 1
Fever, Weight loss, Failure to thrive OMIM:256700
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
White-Kernohan Syndrome
Gastroesophageal reflux, Hydroureter, Horseshoe kidney, Obesity, Hydronephrosis, Hypothyroidism OMIM:619426
Coats Disease
Leukocoria OMIM:300216
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia ORPHA:93941
Spastic Ataxia 3, Autosomal Recessive
Neurogenic bladder, Urinary urgency OMIM:611390
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphology ORPHA:314585
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Oligohydramnios, Urethral atresia OMIM:271520
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Hydronephrosis, Vesicoureteral reflux OMIM:620663
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Elevated circulating alanine aminotransferase concen... OMIM:611881
Williams-Beuren Syndrome
Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Recurrent urinary tract infections, ... OMIM:194050
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Arthrogryposis multiplex congenita OMIM:618186
Tyrosinemia, Type I
Failure to thrive, Hypoglycemia, Fever, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosi... OMIM:276700
Intellectual Developmental Disorder, Autosomal Dominant 42
Failure to thrive, Congenital hypothyroidism, Ureteropelvic junction obstruction, Hydronephrosis,... OMIM:616973
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma of head and n... ORPHA:276621
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Gastroesophageal reflux, Unilateral ren... ORPHA:280633
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Vomiting, Chronic diarrhea OMIM:614921
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Dysphagia, Urinary urgency OMIM:601338
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Polyhydramnios ORPHA:254528
Cardiofaciocutaneous Syndrome
Hydronephrosis, Failure to thrive in infancy, Lymphedema ORPHA:1340
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
Pneumocystosis
Weight loss, Fever ORPHA:723
Chronic Beryllium Disease
Weight loss ORPHA:133
Fryns Syndrome
Chylothorax, Renal agenesis, Large for gestational age, Hydronephrosis, Renal cyst, Polyhydramnio... OMIM:229850
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Micropenis OMIM:617798
Adrenoleukodystrophy
Urinary incontinence, Bowel incontinence, Urinary bladder sphincter dysfunction OMIM:300100
Blepharophimosis-Impaired Intellectual Development Syndrome
Enuresis, Gastroesophageal reflux, Hypospadias, Recurrent urinary tract infections OMIM:619293
Felty Syndrome
Hepatomegaly, Weight loss, Splenomegaly, Cellulitis ORPHA:47612
Trisomy 8P
Nephrocalcinosis, Astigmatism, Hydronephrosis, Heterochromia iridis, Constipation, Micropenis, Fe... ORPHA:264450
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder ORPHA:2075
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Gastroesophageal reflux, Cataract,... ORPHA:818
Keppen-Lubinsky Syndrome
Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta... OMIM:614098
Bartter Syndrome, Type 2, Antenatal
Vomiting, Diarrhea, Polydipsia, Hyperaldosteronism, Constipation, Polyhydramnios, Dehydration OMIM:241200
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria, Obesity OMIM:619269
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Vomiting, Recurrent urinary tract infe... OMIM:301068
Liposarcoma
Weight loss ORPHA:69078
Ménétrier Disease
Weight loss, Anorexia ORPHA:2494
Spinocerebellar Ataxia 10
Urinary incontinence, Dysphagia, Urinary urgency OMIM:603516
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication OMIM:104350
Spastic Paraplegia 9A, Autosomal Dominant
Urinary incontinence, Vomiting, Gastroesophageal reflux, Urinary urgency OMIM:601162
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss, Fever ORPHA:324964
Cap Polyposis
Weight loss ORPHA:160148
Autosomal Recessive Spastic Paraplegia Type 77
Urinary incontinence, Detrusor sphincter dyssynergia, Neurogenic bladder, Neuromuscular dysphagia ORPHA:466722
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Failure to thrive, Hypohidrosis, Keratoconjunctivitis sicca, Nephrotic syndrome ORPHA:238468
Floating-Harbor Syndrome
Nephrocalcinosis, Gastroesophageal reflux, Dilatation of the renal pelvis, Renal agenesis, Stage ... ORPHA:2044
Pelizaeus-Merzbacher Disease
Urinary urgency, Dysphagia, Failure to thrive OMIM:312080
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Slende... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Slende... ORPHA:363958
8P Inverted Duplication/Deletion Syndrome
Hydronephrosis, Abnormality of the urinary system, Micropenis ORPHA:96092
Spastic Paraplegia 84, Autosomal Recessive
Urinary urgency, Crohn's disease OMIM:619621
Adiposis Dolorosa
Diarrhea, Xerostomia, Obesity, Hypothyroidism, Constipation ORPHA:36397
Superficial Siderosis
Nausea, Vomiting, Functional abnormality of the bladder, Anisocoria ORPHA:247245
Spinal Cord Injury
Paralytic ileus, Urinary retention, Urinary bladder sphincter dysfunction ORPHA:90058
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Alexander Disease Type Ii
Dysphagia, Urinary bladder sphincter dysfunction ORPHA:363722
Diffuse Cutaneous Systemic Sclerosis
Oliguria, Xerostomia, Gastroesophageal reflux, Renal insufficiency, Dysphagia ORPHA:220393
Autosomal Recessive Cutis Laxa Type 1
Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract infections, Pyelonep... ORPHA:90349
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hydronephrosis, Failure to thrive, Urachus fistula, Recurrent urinary tract infections OMIM:612541
Adult-Onset Still Disease
Fever, Hepatitis, Splenomegaly, Weight loss, Hepatomegaly ORPHA:829
Distal Deletion 12Q
Failure to thrive in infancy, Obesity, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, Mic... ORPHA:96149
Antisynthetase Syndrome
Xerostomia, Keratoconjunctivitis sicca, Dysphagia, Edema ORPHA:81
Spinal Arteriovenous Metameric Syndrome
Abnormality of the kidney, Urinary bladder sphincter dysfunction ORPHA:53721
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Xerostomia, Vesicoureteral reflux, Limbal stem cell deficiency, Corneal neovasc... ORPHA:2363
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency OMIM:609195
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Vomiting, Pyelonephritis, Bladder diverticulum, Developmental cataract... ORPHA:90348
Dubowitz Syndrome
Cataract, Hydronephrosis, Hypoparathyroidism, Chronic diarrhea, Hypospadias ORPHA:235
Stevens-Johnson Syndrome
Fever, Weight loss, Pancreatitis, Dysphagia ORPHA:36426
X-Linked Creatine Transporter Deficiency
Cachexia, Hyperactivity, Self-mutilation ORPHA:52503
Eosinophilic Granulomatosis With Polyangiitis
Weight loss, Dysphagia, Fever ORPHA:183
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency OMIM:619286
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Distal renal tubular acidosis, Oligohydramnios, Renal tubular acidosis, Nephro... ORPHA:2785
Arima Syndrome
Polydipsia, Chorioretinal coloboma OMIM:243910
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger ORPHA:2774
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder, Xerostomia OMIM:618527
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Vomiting, Gastroesophageal reflux, Renal agenesis, F... OMIM:270400
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis OMIM:272950
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Fever, Liver abscess ORPHA:67
1P36 Deletion Syndrome
Cataract, Gastroesophageal reflux, Failure to thrive, Ocular albinism, Obesity, Hydronephrosis, R... ORPHA:1606
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Weight loss, Congenital diaphragmatic hernia ORPHA:251071
Bardet-Biedl Syndrome
Chronic kidney disease, Cataract, Inflammation of the large intestine, Horseshoe kidney, Obesity,... ORPHA:110
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... ORPHA:98908
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Spinocerebellar Ataxia, Autosomal Recessive 7
Dysphagia, Urinary urgency OMIM:609270
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... ORPHA:90695
Nestor-Guillermo Progeria Syndrome
Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin OMIM:614008
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Failure to thrive ORPHA:2886
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Decreased response to growth hormone stimulation test, Hashimoto thyroiditis, A... OMIM:618223
Peters Plus Syndrome
Iris coloboma, Multicystic kidney dysplasia, Cataract, Microcornea, Peters anomaly, Congenital hy... ORPHA:709
Cardiac Valvular Dysplasia 1
Hydroureter, Urethral diverticulum, Hydronephrosis, Hydrops fetalis, Edema OMIM:212093
Spinocerebellar Ataxia Type 13
Urinary incontinence, Dysphagia, Urinary urgency ORPHA:98768
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Cachexia, Dysphagia, Upper-limb joint contracture ORPHA:300605
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Mental deterioration, Memory impairment ORPHA:314404
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,... ORPHA:2970
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Astigmatism, Ectopia pupillae OMIM:618727
Narcolepsy 3
Narcolepsy OMIM:609039
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Increased nuchal translucency, Vesicoureteral reflux, Hydronephrosis, Hypothyroidi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Increased nuchal translucency, Vesicoureteral reflux, Hydronephrosis, Hypothyroidi... ORPHA:352665
Jacobsen Syndrome
Cataract, Multicystic kidney dysplasia, Microcornea, Hydronephrosis, Constipation, Iris coloboma ORPHA:2308
Spinocerebellar Ataxia 2
Urinary incontinence, Dysphagia, Urinary bladder sphincter dysfunction OMIM:183090
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... OMIM:619743
Cousin Syndrome
Hydronephrosis, Microcornea OMIM:260660
Opitz Gbbb Syndrome
Abnormality of the urinary system, Vesicoureteral reflux, Hydronephrosis, Dysphagia, Hypospadias ORPHA:2745
Frontometaphyseal Dysplasia
Abnormal cornea morphology, Ureteral obstruction, Astigmatism, Hydronephrosis, Urethral stenosis ORPHA:1826
Spinocerebellar Ataxia Type 42
Urinary incontinence, Dysphagia, Urinary urgency ORPHA:458803
Arachnoiditis
Urinary bladder sphincter dysfunction ORPHA:137817
Infantile Krabbe Disease
Unexplained fevers, Cachexia, Temperature instability, Failure to thrive ORPHA:206436
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Failure to thrive, Keratitis, Astigmatism, Hydronephrosis, Abnormality of the upper ... ORPHA:2273
Nocardiosis
Cellulitis, Fever, Peritonitis, Weight loss, Abnormality of the adrenal glands, Anorexia, Thyroid... ORPHA:31204
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cataract, Abnormality of the urinary system, Gastroesophageal reflux, Failure to thrive, Recurren... ORPHA:353281
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Splenomegaly, Hypothyroidism, Weight loss, Hepatomegaly OMIM:613673
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss, Fever ORPHA:747
Primary Fanconi Renotubular Syndrome
Weight loss, Glycosuria, Hypoglycemia ORPHA:3337
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Urinary urgency OMIM:606071
Gabriele-De Vries Syndrome
Hydronephrosis, Ureteropelvic junction obstruction OMIM:617557
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Joint swelling, Ga... ORPHA:809
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction ORPHA:52430
Ramos-Arroyo Syndrome
Xerostomia, Keratitis, Choriocapillaris atrophy, Chorioretinal atrophy, Chronic constipation, Dec... ORPHA:1051
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Failure to thrive, Ureteral stenosis, Hydronephrosis, Micropenis, Hypospadias OMIM:269150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Persistent pupillary membrane, Peters anomaly, Buphthalmos OMIM:613150
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Pleural effusion, Nonimmu... OMIM:265380
Listeriosis
Arteritis, Liver abscess, Congestive heart failure, Cholecystitis, Peritonitis, Hepatic granuloma... ORPHA:533
Autosomal Dominant Spastic Paraplegia Type 10
Urinary urgency, Spastic/hyperactive bladder ORPHA:100991
Rett Syndrome
Bruxism, Cachexia, Stereotypical hand wringing OMIM:312750
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias, Lymphedema ORPHA:487796
Glossopharyngeal Neuralgia
Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
Autosomal Recessive Polycystic Kidney Disease
Ascites, Gastrointestinal hemorrhage, Oligohydramnios, Polydipsia ORPHA:731
Refractory Celiac Disease
Abnormal spleen physiology, Weight loss ORPHA:398063
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Chorioretinal coloboma, Large for gestational age, Ureteropelvic junction obstruction, Hydronephr... OMIM:280000
Kyphoscoliotic Ehlers-Danlos Syndrome
Bladder diverticulum, Microcornea ORPHA:536545
Citrullinemia Type Ii
Diarrhea, Vomiting, Decreased body mass index, Enuresis ORPHA:247585
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Nephroblastoma, Pancreatic islet-cell hyperplasia, Hyd... ORPHA:373
Schinzel-Giedion Syndrome
Central hypothyroidism, Failure to thrive in infancy, Abnormality of the ureter, Nephroblastoma, ... ORPHA:798
Acrodermatitis Enteropathica
Weight loss, Failure to thrive, Anorexia ORPHA:37
Hereditary Late-Onset Parkinson Disease
Impulsivity, Weight loss, Dysphagia, Agitation ORPHA:411602
Nijmegen Breakage Syndrome
Hydronephrosis, Diarrhea, Conjunctival telangiectasia, Recurrent urinary tract infections OMIM:251260
Raine Syndrome
Hydronephrosis, Hydroureter OMIM:259775
Gabriele-De Vries Syndrome
Oral-pharyngeal dysphagia, Decreased response to growth hormone stimulation test, Ureteropelvic j... ORPHA:506358
Narcolepsy 1
Narcolepsy OMIM:161400
Apert Syndrome
Hydronephrosis, Hyperhidrosis OMIM:101200
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic/hyperactive bladder ORPHA:137898
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Abnormality of the thyroid gland, Anorexia ORPHA:1969
Classical Ehlers-Danlos Syndrome
Vomiting, Gastroesophageal reflux, Abnormal cornea morphology, Blepharochalasis, Joint swelling, ... ORPHA:287
Pancreatoblastoma
Pancreatic calcification, Jaundice, Weight loss ORPHA:677
Parkinson Disease, Late-Onset
Constipation, Dysphagia, Urinary urgency OMIM:168600
Loeffler Endocarditis
Weight loss ORPHA:75566
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Hepatic failure, Narcolepsy, Hepatosp... ORPHA:646
Gerstmann-Straussler Disease
Aggressive behavior, Weight loss OMIM:137440
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Exocrine pancreatic insufficiency, Renal insufficiency, Proteinuria... ORPHA:2750
3Mc Syndrome 1
Hydronephrosis, Conjunctival telangiectasia, Abnormal anterior chamber morphology OMIM:257920
Rat-Bite Fever
Weight loss, Pancreatitis, Fever, Parotitis ORPHA:31205
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Hypomagnesemia 3, Renal
Vomiting, Polydipsia, Astigmatism OMIM:248250
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Charcot-Marie-Tooth Disease Type 4C
Abnormal pupillary light reflex, Anisocoria, Failure to thrive ORPHA:99949
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Fever, Weight loss, Splenomegaly ORPHA:98849
Norrie Disease
Self-injurious behavior, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphol... ORPHA:649
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Urinary bladder sphincter dysfunction ORPHA:43
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss, Dysphagia OMIM:603041
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microcornea, Astigmatism, Hydronephrosis, Constipation, Abnormal anterior chamber morphology, Nep... OMIM:601776
Lynch Syndrome
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Neoplasm of the live... ORPHA:144
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Narcolepsy 7
Narcolepsy OMIM:614250
Okamoto Syndrome
Gastroesophageal reflux, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Oligohy... ORPHA:2729
Charge Syndrome
Iris coloboma, Gastroesophageal reflux, Chorioretinal coloboma, Horseshoe kidney, Vesicoureteral ... ORPHA:138
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Aicardi-Goutieres Syndrome 7
Hepatitis, Fever, Splenomegaly, Hepatic steatosis, Hypothyroidism, Weight loss, Hepatomegaly OMIM:615846
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias OMIM:300712
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur... OMIM:619522
Melnick-Needles Syndrome
Hydronephrosis, Failure to thrive, Ureteral stenosis OMIM:309350
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Weight loss, Enthesitis, Low-grade fever, Flexion contracture ORPHA:85408
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Hydromyelia, Hydronephrosis, Micropenis, Opacification of the corne... OMIM:615287
Xfe Progeroid Syndrome
Failure to thrive, Corneal scarring, Absence of subcutaneous fat, Cachexia, Enamel hypoplasia OMIM:610965
Machado-Joseph Disease
Dysphagia, Urinary bladder sphincter dysfunction OMIM:109150
Chime Syndrome
Hydronephrosis, Abnormality of the kidney, Corneal opacity ORPHA:3474
Primary Intestinal Lymphangiectasia
Weight loss, Peritoneal effusion ORPHA:90362
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Ectopia pupillae, Axenfeld anomaly, Chordee, Urinary incontinence, ... ORPHA:261552
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Corneal opacity, Ectopia pupillae ORPHA:85167
Simple Cryoglobulinemia
Unexplained fevers, Weight loss, Viral hepatitis ORPHA:91139
Adrenomyeloneuropathy
Urinary retention, Urinary bladder sphincter dysfunction, Urinary urgency, Urinary incontinence, ... ORPHA:139399
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cataract, Abnormality of the urinary system, Gastroesophageal reflux, Failure to thrive, Recurren... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cataract, Abnormality of the urinary system, Gastroesophageal reflux, Failure to thrive, Recurren... ORPHA:353277
Urachal Cyst
Hematuria, Peritonitis, Urachus fistula, Dysuria, Pyuria ORPHA:488
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Gaisböck Syndrome
Elevated diastolic blood pressure, Cholecystitis, Angina pectoris, Hypertension, Myocardial infar... ORPHA:90041
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias OMIM:268310
Rubinstein-Taybi Syndrome 1
Cataract, Gastroesophageal reflux, Failure to thrive, Hydronephrosis, Constipation, Truncal obesi... OMIM:180849
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Small for gestational age ORPHA:97360
Juvenile Dermatomyositis
Weight loss, Dysphagia, Fever ORPHA:93672
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydronephrosis, Micropenis, Hypospadias ORPHA:163979
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss, Steatorrhea ORPHA:309031
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Cholecystitis, Liver abscess, Viral hepatitis ORPHA:183675
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive ORPHA:217346
Liver Disease, Severe Congenital
Aminoaciduria, Diarrhea, Vomiting, Failure to thrive, Recurrent urinary tract infections, Hyperec... OMIM:619991
Kawasaki Disease
Vasculitis, Hepatitis, Congestive heart failure, Cholecystitis, Arrhythmia, Myocarditis, Jaundice... ORPHA:2331
Arboleda-Tham Syndrome
Gastroesophageal reflux, Recurrent urinary tract infections, Upper eyelid edema, Astigmatism, Hyd... OMIM:616268
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Lens subluxation, Corneal opacity, Ectopia pupillae OMIM:608940
Pyomyositis
Weight loss, Fever ORPHA:764
Brucellosis
Failure to thrive, Fever, Hypersplenism, Abnormality of the liver, Splenomegaly, Orchitis, Weight... ORPHA:1304
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dysphagia, Urinary bladder sphincter dysfunction ORPHA:64753
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Dysphagia, Failure to thrive ORPHA:1018
Spinocerebellar Ataxia 1
Dysphagia, Urinary bladder sphincter dysfunction OMIM:164400
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Abnormality of the urethra, Keratoconjunctivitis, Abnormal renal tubule morphology, A... ORPHA:2907
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig... ORPHA:740
Polycythemia Vera
Portal hypertension, Splenomegaly, Portal vein thrombosis, Weight loss, Hepatomegaly ORPHA:729
Campomelic Dysplasia
Hydronephrosis, Hypospadias, Failure to thrive, Polyhydramnios OMIM:114290
Lambert-Eaton Myasthenic Syndrome
Hypohidrosis, Xerostomia, Keratoconjunctivitis sicca, Constipation ORPHA:43393
Imerslund-Gräsbeck Syndrome
Weight loss, Failure to thrive ORPHA:35858
Mesomelia-Synostoses Syndrome
Hydronephrosis, Polyhydramnios OMIM:600383
Choreoacanthocytosis
Self-injurious behavior, Phonic tics, Head-banging, Bruxism, Splenomegaly, Hair-pulling, Aggressi... ORPHA:2388
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Pollakisuria, Urinary urgency ORPHA:447753
Digeorge Syndrome
Unilateral renal agenesis, Gastroesophageal reflux, Obesity, Renal insufficiency, Hydronephrosis,... OMIM:188400
Wiedemann-Rautenstrauch Syndrome
Cataract, Failure to thrive, Increased circulating prolactin concentration, Recurrent urinary tra... ORPHA:3455
African Trypanosomiasis
Hepatosplenomegaly, Abnormality of circulating cortisol level, Splenomegaly, Aggressive behavior,... ORPHA:3385
Witteveen-Kolk Syndrome
Cataract, Iris coloboma, Gastroesophageal reflux, Male urethral meatus stenosis, Microphallus, De... OMIM:613406
Familial Thrombocytosis
Hyperhidrosis, Weight loss, Splenomegaly ORPHA:71493
Spinocerebellar Ataxia Type 10
Urinary urgency ORPHA:98761
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Fever, Weight loss, Nodular goiter, Thyroiditis, Retroperitoneal fibrosis ORPHA:79078
Congenital Fiber-Type Disproportion Myopathy
Ankle flexion contracture, Failure to thrive, Elbow flexion contracture, Hip contracture, Knee fl... ORPHA:2020
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Chronic Graft Versus Host Disease
Diarrhea, Xerostomia, Gastroesophageal reflux, Urinary bladder inflammation, Ascites, Pleural eff... ORPHA:99921
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Xerostomia, Graves disease, Autoimmune hypoparathyroidism, Hashimoto thyroidi... ORPHA:227982
Behçet Disease
Fever, Splenomegaly, Orchitis, Weight loss, Pancreatitis, Anorexia ORPHA:117
Wolf-Hirschhorn Syndrome
Iris coloboma, Gastroesophageal reflux, Failure to thrive, Ectopia pupillae, Rieger anomaly, Hypo... OMIM:194190
Cockayne Syndrome
Congenital contracture, Contractures of the large joints, Absence of pubertal development, Spleno... ORPHA:191
Granulomatosis With Polyangiitis
Weight loss, Fever OMIM:608710
Johanson-Blizzard Syndrome
Generalized edema, Urethrovaginal fistula, Conjunctival icterus, Failure to thrive, Anasarca, Asc... OMIM:243800
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Cachexia ORPHA:3217
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Cataract, Nephrocalcinosis, Abnormality of the... ORPHA:79500
Sotos Syndrome
Cataract, Gastroesophageal reflux, Renal agenesis, Renal insufficiency, Vesicoureteral reflux, Ur... ORPHA:821
Focal Dermal Hypoplasia
Ectopia lentis, Chorioretinal coloboma, Horseshoe kidney, Bifid ureter, Aniridia, Hydronephrosis,... OMIM:305600
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Dysphagia OMIM:607459
Peters-Plus Syndrome
Cataract, Renal hypoplasia, Iris coloboma, Peters anomaly, Decreased body weight, Hydronephrosis,... OMIM:261540
Camurati-Engelmann Disease
Hypogonadism, Slender build, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Cachexi... ORPHA:1328
Mucolipidosis Type Ii
Umbilical hernia, Hepatosplenomegaly, Splenomegaly, Hip contracture, Inguinal hernia, Knee flexio... ORPHA:576
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Dysphagia, Bowel incontinence, Urinary bladder sphincter dysfunction ORPHA:93256
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Weight loss, Anorexia ORPHA:79430
Schwartz-Jampel Syndrome
Malignant hyperthermia, Shoulder flexion contracture, Umbilical hernia, Inguinal hernia, Hip cont... ORPHA:800
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Weight loss OMIM:301310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Cataract, Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Hydrops fetalis, Ure... ORPHA:93271
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro... ORPHA:3310
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Diarrhea, Xerostomia, Symbl... ORPHA:95455
Reactive Arthritis
Weight loss, Fever, Enthesitis ORPHA:29207
Postinfectious Vasculitis
Fever, Orchitis, Weight loss, Anorexia, Viral hepatitis ORPHA:48435
Spastic Ataxia, Charlevoix-Saguenay Type
Urinary urgency OMIM:270550
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Cataract, Multicystic kidney dysplasia, Iris coloboma, Failure to thrive, Vesicoure... ORPHA:261537
Charge Syndrome
Cataract, Renal hypoplasia, Iris coloboma, Renal agenesis, Horseshoe kidney, Decreased response t... OMIM:214800
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Axenfeld anomaly, Decreased body weight, Chordee, Abnormality of th... ORPHA:2152
Parkinson Disease 1, Autosomal Dominant
Dysphagia, Urinary urgency OMIM:168601
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroesophageal reflux, Failure to thrive, Gastroparesis, Constipation, Nocturia, Dysphagia ORPHA:254892
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss, Fever, Recurrent fever OMIM:301074
Biliary, Renal, Neurologic, And Skeletal Syndrome
Generalized edema, Gastroesophageal reflux, Dilatation of the renal pelvis, Failure to thrive, Hy... OMIM:619534
Mowat-Wilson Syndrome
Iris coloboma, Microcornea, Vomiting, Cataract, Chorioretinal coloboma, Ectopia pupillae, Constip... OMIM:235730
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hydronephrosis, Micropenis, Failure to thrive ORPHA:83617
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Obesity, Constipation, Enuresis, Failure to thrive ORPHA:369950
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Abdominal situs inversus ORPHA:280
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Keratoconjunctivitis sicca, Iridocyclitis, Tubulointerstitial nep... ORPHA:227990
Sarcoidosis, Susceptibility To, 1
Fever, Splenomegaly, Weight loss, Anorexia, Hepatomegaly OMIM:181000
Floating-Harbor Syndrome
Nephrocalcinosis, Glandular hypospadias, Hydronephrosis, Hypospadias, Congenital posterior urethr... OMIM:136140
Friedreich Ataxia
Dysphagia, Urinary bladder sphincter dysfunction ORPHA:95
Revesz Syndrome
Leukocoria, Megalocornea OMIM:268130
Castleman Disease
Jaundice, Weight loss ORPHA:160
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Astigmatism, Hydronephrosis, Ectopic kidney, Hypospadias OMIM:135900
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2636
Riddle Syndrome
Weight loss, Recurrent fever ORPHA:420741
Blau Syndrome
Nephropathy, Cataract, Posterior uveitis, Xerostomia, Keratitis, Stage 5 chronic kidney disease, ... ORPHA:90340
Igg4-Related Submandibular Gland Disease
Facial edema, Xerostomia, Renal insufficiency, Prostatitis, Abnormality of the kidney, Periorbita... ORPHA:449432
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... OMIM:175780
Aplasia Of Lacrimal And Salivary Glands
Xerostomia OMIM:180920
Kabuki Syndrome 1
Congenital hypothyroidism, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Hydro... OMIM:147920
Kikuchi-Fujimoto Disease
Low-grade fever, Splenomegaly, Weight loss, Anorexia, Hepatomegaly ORPHA:50918
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Weight loss, Fever ORPHA:60025
Multiple System Atrophy 1, Susceptibility To
Urinary incontinence, Urinary urgency OMIM:146500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Functional abnormality of the bladder, Renal artery stenosis, Enterocolitis, Renovascul... ORPHA:391487
Oculopharyngodistal Myopathy 1
Weight loss, Dysphagia OMIM:164310
Acute Transverse Myelitis
Urinary retention, Urinary bladder sphincter dysfunction, Gastroparesis, Paralytic ileus, Constip... ORPHA:139417
Retinoblastoma
Heterochromia iridis, Leukocoria, Hypopyon, Uveitis ORPHA:790
Fanconi Anemia
Umbilical hernia, Hypogonadism, Abnormality of the liver, Weight loss, Abnormality of the hypotha... ORPHA:84
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cataract, Astigmatism, Hydronephrosis, Abnormal circulating thyroid hormone concentration, Renal ... ORPHA:480880
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydronephrosis, Abnormal renal morphology, Lisch nodules, Renal hypoplasia/aplasia ORPHA:363700
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Nephroblastoma, Pancreatic islet-cell hyperplasia, Hydronephrosis, R... OMIM:312870
Genitopatellar Syndrome
Multicystic kidney dysplasia, Polyhydramnios, Hydronephrosis, Hypothyroidism, Micropenis, Dysphagia OMIM:606170
Sponastrime Dysplasia
Cataract, Hypothyroidism, Microcoria, Congenital aphakia, Hypospadias, Small for gestational age ORPHA:93357
Hydrolethalus Syndrome 1
Hydronephrosis, Hypospadias, Polyhydramnios OMIM:236680
Acrofacial Dysostosis, Cincinnati Type
Failure to thrive, Pterygium, Decreased body weight, Hydronephrosis, Dysphagia OMIM:616462
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Gastroesophageal reflux, Renal amyloidosis, IgA deposition in the glomeru... ORPHA:79408
Vascular Ehlers-Danlos Syndrome
Keratoconus, Cystocele, Abnormal pupil morphology, Bladder diverticulum, Renovascular hypertensio... ORPHA:286
Systemic Lupus Erythematosus
Weight loss, Fever, Anorexia ORPHA:536
Immunodeficiency 82 With Systemic Inflammation
Hepatitis, Recurrent fever, Splenomegaly, Weight loss, Anorexia OMIM:619381
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Micropenis, Renal duplication OMIM:180700
Dermatomyositis
Cellulitis, Chondrocalcinosis, Fever, Weight loss, Dysphagia ORPHA:221
Viss Syndrome
Gastroesophageal reflux, Failure to thrive, Chronic gastritis, Chronic constipation, Hydronephros... OMIM:619472
Multiple Myeloma
Weight loss, Splenomegaly ORPHA:29073
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormal temper tantrums, Abnormality of the spleen, Hepatosple... ORPHA:2072
Seckel Syndrome
Abnormal dental enamel morphology, Cachexia ORPHA:808
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Constipation OMIM:620330
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Otopalatodigital Syndrome, Type Ii
Hydronephrosis, Cataract, Hypospadias OMIM:304120
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Weight loss, Fever, Anorexia ORPHA:91500
Juvenile Polyposis Of Infancy
Cachexia, Subcutaneous lipoma ORPHA:79076
Retinoblastoma
Leukocoria OMIM:180200
Nijmegen Breakage Syndrome
Attention deficit hyperactivity disorder, Cachexia ORPHA:647
Isolated Posterior Meningocele
Enuresis, Bowel incontinence ORPHA:268810
Marfan Syndrome
Attention deficit hyperactivity disorder, Slender build, Cachexia, Inguinal hernia ORPHA:558
Proteus Syndrome
Thymus hyperplasia, Neoplasm of the thymus, Abnormal dental enamel morphology, Splenomegaly, Abno... ORPHA:744
Lacrimoauriculodentodigital Syndrome 1
Corneal perforation, Xerostomia, Renal agenesis, Limbal stem cell deficiency, Recurrent corneal e... OMIM:149730
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Failure to thrive, Chronic constipation, Micropenis, Pelvic kidney, Dy... OMIM:619503
Goodpasture Syndrome
Weight loss, Fever OMIM:233450
Alström Syndrome
Chronic kidney disease, Detrusor sphincter dyssynergia, Gastroesophageal reflux, Functional abnor... ORPHA:64
Stickler Syndrome
Abnormal dental enamel morphology, Slender build, Cachexia ORPHA:828
Tropical Endomyocardial Fibrosis
Hepatomegaly, Fever, Cachexia, Splenomegaly ORPHA:75565
Parkinson Disease 14, Autosomal Recessive
Nocturia OMIM:612953

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Chrm3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chrm3.

No publications found that use IMPC mice or data for Chrm3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Chrm3tm197666(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Chrm3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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