banner
Genes Phenotypes Help, News, Blog

Gene: Chrm3 MGI:88398

Log in to follow
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
Hydroureter, Xerostomia, Hydronephrosis, Congenital posterior urethral valve, Slow pupillary ligh... OMIM:100100
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... 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
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Fetal pyelectasis, Megacystis, Nephrolithias... OMIM:619365
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Mahvash Disease
Recurrent pancreatitis, Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cel... OMIM:619290
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... ORPHA:314811
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Adrenomyodystrophy
Primary adrenal insufficiency, Megacystis, Abnormality of the urinary system, Megalocornea, Failu... ORPHA:977
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Intestinal Botulism
Diarrhea, Xerostomia, Mydriasis, Dysphagia ORPHA:178481
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Iatrogenic Botulism
Xerostomia, Constipation, Urinary retention, Dysphagia, Mydriasis ORPHA:254509
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... OMIM:606762
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia ORPHA:329249
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Slow pupillary light response, Neurogenic bladder, Recurrent urinary tract infections, Hypospadia... OMIM:191800
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Inhalational Botulism
Diarrhea, Xerostomia, Constipation, Urinary retention, Mydriasis ORPHA:254504
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polyuria, Megacystis, Hypertonic dehydration, Vomiting, Constipation, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polyuria, Megacystis, Hypertonic dehydration, Vomiting, Constipation, Failure to thrive OMIM:304800
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... ORPHA:324575
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
Botulism
Diarrhea, Xerostomia, Constipation, Urinary retention, Dysphagia, Mydriasis ORPHA:1267
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, H... OMIM:232700
Riboflavin Deficiency
Hypoglycemia, Hypothermia OMIM:615026
Foodborne Botulism
Diarrhea, Xerostomia, Constipation, Urinary retention, Dysphagia, Mydriasis ORPHA:228371
Enuresis, Nocturnal, 1
Enuresis nocturna OMIM:600631
Enuresis, Nocturnal, 2
Enuresis nocturna OMIM:600808
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Abnormal biliary tract morphology, Cholelithiasis, I... ORPHA:438274
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Polyhydramnios, Megacystis, Fetal megacystis, Hydronephrosis OMIM:619362
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... ORPHA:276580
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Increased s... ORPHA:100083
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia OMIM:610006
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Reduced circulating gr... OMIM:262400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... ORPHA:276575
Wound Botulism
Constipation, Urinary retention, Dysphagia, Mydriasis ORPHA:178475
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... ORPHA:79085
Infant Botulism
Anorexia, Bowel incontinence, Xerostomia, Keratoconjunctivitis sicca, Constipation, Dysphagia, My... ORPHA:178478
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hyperinsulinemia, Hypoglycemia OMIM:606528
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis, Oligohydramnios OMIM:619431
Mantle Cell Lymphoma
Fever, Splenomegaly, Anorexia, Weight loss ORPHA:52416
Toxin-Mediated Infectious Botulism
Constipation, Mydriasis, Dysphagia ORPHA:230800
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Megacystis, Chronic constipatio... OMIM:619350
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435651
Visceral Myopathy 1
Gastroparesis, Polyhydramnios, Pancreatitis, Diarrhea, Megacystis, Urinary retention, Vomiting, C... OMIM:155310
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Polyhydramnios ORPHA:1450
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati... ORPHA:84085
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Polyphagia, Obesity OMIM:618406
Idiopathic Congenital Hypothyroidism
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... ORPHA:95717
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency OMIM:613364
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... OMIM:262700
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:435660
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... ORPHA:276556
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Peritonitis, Megacystis, Oligohydramnios, Pyelonephritis, Fetal megacystis, Renal cortica... OMIM:619351
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Hypothermia, Hyperhidrosis OMIM:245400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Failure to thrive, Hypoglycemia ORPHA:67046
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Fever, Anorexia, Weight loss ORPHA:2023
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia ORPHA:369873
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the bladder ORPHA:100997
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis ORPHA:39044
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... ORPHA:95716
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... ORPHA:226313
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... OMIM:604367
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hypertriglyceridemia, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Pulmonary Blastoma
Fever, Weight loss ORPHA:64741
Spastic Paraplegia 83, Autosomal Recessive
Urinary urgency, Dysphagia OMIM:619027
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit hyperactivity disorder, Hyperi... ORPHA:35878
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Polyhydramnios, Hypoperistalsis, Megacystis ORPHA:2241
Cherubism
Macular scar, Marcus Gunn pupil, Optic neuropathy OMIM:118400
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Fever, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurren... ORPHA:2126
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Decreased serum leptin, Obesity OMIM:614962
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Combined Oxidative Phosphorylation Deficiency 34
Fever, Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-s... OMIM:617872
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... ORPHA:79644
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Autosomal Dominant Spastic Paraplegia Type 4
Urinary urgency, Urinary bladder sphincter dysfunction ORPHA:100985
Tuberculosis
Fever, Weight loss ORPHA:3389
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... OMIM:608600
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia OMIM:609016
Serotonin Syndrome
Restlessness, Diarrhea, Hyperhidrosis, Agitation, Nausea, Mydriasis ORPHA:43116
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Hyperhid... ORPHA:33543
Autosomal Recessive Spastic Paraplegia Type 27
Spastic/hyperactive bladder ORPHA:101007
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Hereditary Central Diabetes Insipidus
Diarrhea, Polydipsia, Vomiting ORPHA:30925
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Chorioretinal coloboma... ORPHA:195
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Prune Belly Syndrome
Hydroureter, Xerostomia, Hydronephrosis, Congenital posterior urethral valve, Slow pupillary ligh... OMIM:100100
Timothy Syndrome
Hypothyroidism, Hypothermia, Hypoglycemia OMIM:601005
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Hypothermia... ORPHA:90674
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis OMIM:261650
Familial Visceral Myopathy
Vesicoureteral reflux, Hyperparathyroidism, Hydroureter, Megacystis ORPHA:2604
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia OMIM:145750
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... ORPHA:2704
Miller Fisher Syndrome
Anisocoria, Vomiting, Mydriasis, Dysphagia ORPHA:98919
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Hypothermia, Splenomegaly, Micronodular cirrhosi... OMIM:251880
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age OMIM:300076
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fever, Hepatomegaly, Anorexia, Splenomegaly, Hyperhidrosis, Weight loss ORPHA:86893
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Spastic Paraplegia 31, Autosomal Dominant
Urinary urgency, Dysphagia OMIM:610250
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Achalasia, Dysphagia OMIM:300858
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... OMIM:619326
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Spastic Paraplegia 72, Autosomal Recessive
Urinary bladder sphincter dysfunction OMIM:615625
Central Diabetes Insipidus
Diarrhea, Polydipsia, Anorexia, Dehydration ORPHA:178029
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Familial Cold Urticaria
Polydipsia, Conjunctivitis, Dehydration, Hyperhidrosis ORPHA:47045
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia OMIM:610090
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to... OMIM:604292
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... ORPHA:363400
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Hypothermia, Increased circulating free fatty acid level... ORPHA:26793
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia ORPHA:230
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Hypospadias, Compensated hypothyroidism, Megacystis, Congenital hypothyroidis... ORPHA:209905
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... ORPHA:90673
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Fever, Hypothermia, Anorexia, Jaundice... ORPHA:20
Spastic Paraplegia 13, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:605280
Megabladder, Congenital
Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease OMIM:618719
Inflammatory Pseudotumor Of The Liver
Fever, Diabetes mellitus, Abnormal liver sonography, Biliary tract abnormality, Weight loss, Neop... ORPHA:90003
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Diarrhea, Dehydration, Hyp... ORPHA:2131
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... OMIM:612526
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... ORPHA:79237
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Hypothermia, Bile duct proliferation, Macrovesicular hepatic steatosis, Failure to ... OMIM:618329
Metachromatic Leukodystrophy
Decreased nerve conduction velocity, Gallbladder dysfunction, Mental deterioration, Cholecystitis OMIM:250100
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder ORPHA:488594
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:151660
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Flexion contracture, W... ORPHA:1979
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Generalized edema, Hydroureter, Fetal megacystis, Oligohydramnios OMIM:249210
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, ... ORPHA:263455
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Idiopathic Achalasia
Weight loss, Dysphagia ORPHA:930
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis OMIM:620357
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis ORPHA:85285
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Small for gestational age, Hypoglycemia, Hyperhidrosis ORPHA:231147
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Autosomal Spastic Paraplegia Type 72
Urinary bladder sphincter dysfunction ORPHA:401849
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Pituitary Apoplexy
Decreased response to growth hormone stimulation test, Elevated circulating growth hormone concen... ORPHA:95613
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Failure to thrive, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Portal f... ORPHA:369
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus ORPHA:791
Erythrokeratodermia Variabilis
Diabetes mellitus, Weight loss ORPHA:317
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit... ORPHA:528
Spastic Paraplegia 19, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607152
Arachnoid Cyst
Urinary bladder sphincter dysfunction, Urinary incontinence, Nausea, Mydriasis ORPHA:2356
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia, Failure to thrive in infancy ORPHA:6
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Fever, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome, Recurrent fever OMIM:201910
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hypothermia, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Multisystemic Smooth Muscle Dysfunction Syndrome
Mydriasis, Hypoperistalsis OMIM:613834
Spastic Paraplegia 12, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:604805
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... ORPHA:103918
Spontaneous Periodic Hypothermia
Hypothermia, Hyperhidrosis ORPHA:29822
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Interstitial Cystitis
Abnormality of the urethra, Urinary bladder inflammation, Functional abnormality of the bladder, ... ORPHA:37202
Spastic Paraplegia 8, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Dysphagia OMIM:603563
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Hypoglycemia, Hyperhidrosis, Decreased body weight, Neonatal hypoglycemia ORPHA:231140
Alexander Disease
Diabetes mellitus, Hypothermia, Precocious puberty, Hyperhidrosis, Self-injurious behavior, Dysph... ORPHA:58
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Fever, Polydipsia, Decreased response to growth hormone stimulation test, Central diabetes insipi... ORPHA:293987
Cocaine Intoxication
Pulmonary edema, Proteinuria, Glomerulonephritis, Hyperhidrosis, Hematuria, Tubulointerstitial ne... ORPHA:90068
Orthostatic Hypotension 1
Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration OMIM:223360
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... OMIM:608594
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
8P23.1 Duplication Syndrome
Adrenal insufficiency, Hydronephrosis ORPHA:251076
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Primary Erythromelalgia
Hypothermia ORPHA:90026
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Achalasia, Aggressive behavior, Dysphagia ORPHA:289483
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia, Obesity OMIM:615996
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... OMIM:246200
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Hyperhidrosis, Abnormal liver parenchyma morphology, Weig... ORPHA:1332
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia ORPHA:67048
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Bardet-Biedl Syndrome 9
Polydipsia, Astigmatism, Polyphagia, Cataract OMIM:615986
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Hypoglycemia, Anorexia, Decreased circu... ORPHA:199299
2P21 Microdeletion Syndrome
Failure to thrive, Hypogonadism, Hypoglycemia ORPHA:163693
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Nonimmune hydrops fetalis, Hydronephrosis, Decreased body weight OMIM:618265
Progressive Nodular Histiocytosis
Fever, Cachexia ORPHA:158022
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia... ORPHA:1133
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Functional abnormality of the bladder, Nausea ORPHA:71211
Autosomal Dominant Spastic Paraplegia Type 13
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:100994
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Scorpion Envenomation
Acute pancreatitis, Ketonuria, Miosis, Pulmonary edema, Edema, Diarrhea, Hyperhidrosis, Vomiting,... ORPHA:466677
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... OMIM:269700
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Fever, Hypoglycemia, Pancreatitis OMIM:620137
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Pediatric-Onset Graves Disease
Hyperactivity, Keratitis, Thyrotoxicosis with diffuse goiter, Increased circulating free T3, Diar... ORPHA:525731
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Diencephalic Syndrome
Decreased body weight, Abnormality of the hypothalamus-pituitary axis, Cachexia, Hyperhidrosis ORPHA:1672
Spastic Paraplegia 37, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:611945
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Spastic Paraplegia 6, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:600363
Coenzyme Q10 Deficiency, Primary, 5
Hypothermia OMIM:614654
Cystinosis
Corneal opacity, Abnormal repetitive mannerisms, Dehydration, Vomiting, Polydipsia, Hypothyroidism ORPHA:213
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Joint contracture, Inguinal hernia, Hypothermia OMIM:614498
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia ORPHA:2047
Spinocerebellar Ataxia Type 25
Urinary urgency, Vomiting ORPHA:101111
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Hypoglycemia, Hypothermia, Aggressive behavior, Flexion contracture, Hyperhidrosis,... ORPHA:17
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Failure to thrive, Hypoglycemia, Dysphagia OMIM:618958
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... OMIM:606069
Reticular Dysgenesis
Fever, Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Somatostatinoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97283
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Congenital Myopathy 19
Renal atrophy, Hydronephrosis, Dysphagia OMIM:618578
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections OMIM:619218
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Failure to thrive, Hepatic steatosis, Hypoglycemia OMIM:619048
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, Extrahepatic cholestasis, Hepat... ORPHA:1333
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Enuresis, Failure to thrive in infancy, Obesity OMIM:613670
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena... OMIM:609757
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss, Dysphagia ORPHA:2198
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism,... ORPHA:95496
Osteopetrosis, Autosomal Recessive 5
Ascites, Mydriasis OMIM:259720
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Achalasia, Xerostomia OMIM:200400
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia OMIM:617950
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Spastic Paraplegia 3, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:182600
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... OMIM:201400
Spastic Paraplegia, Ataxia, And Mental Retardation
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:607565
Perlman Syndrome
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia ORPHA:2849
Vipoma
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live... ORPHA:97282
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Polyhydramnios, Urinary bladder inflammation, Hydronephrosis, Hematuria, Apla... ORPHA:79403
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocell... ORPHA:65682
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia ORPHA:364
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... ORPHA:79086
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Constipation, Gastroesophageal reflux, Dysphagia, Failure ... DECIPHER:45
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac... OMIM:618493
Intellectual Developmental Disorder, X-Linked 90
Enuresis OMIM:300850
Spastic Paraplegia 36, Autosomal Dominant
Urinary urgency, Urinary incontinence OMIM:613096
Multicentric Reticulohistiocytosis
Fever, Cachexia ORPHA:139436
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Familial Hyperaldosteronism Type I
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Nausea ORPHA:403
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal obesity, Delayed puberty... ORPHA:633
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Anorexia, Adrenal insufficiency, Hepatic steatosis, Pancreatitis OMIM:619386
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to th... ORPHA:79319
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... OMIM:218700
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Fever, Weight loss ORPHA:100024
Al-Gazali Syndrome
Corneal opacity, Polyhydramnios, Sclerocornea, Failure to thrive, Hydronephrosis OMIM:609465
Beta-Ketothiolase Deficiency
Fever, Hepatomegaly, Hypoglycemia, Anorexia, Weight loss, Agitation, Oral aversion, Hyperglycemia ORPHA:134
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Anisocoria, R... OMIM:613550
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Polydipsia OMIM:617671
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Urinary urgency OMIM:618878
Meningococcal Meningitis
Fever, Hypothermia, Anorexia ORPHA:33475
Wolman Disease
Fever, Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Adrenal insufficiency, Steato... ORPHA:75233
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... OMIM:613027
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Astigmatism, Hydronephrosis OMIM:619797
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Fever, Weight loss ORPHA:545
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Cataract, Dysphagia, Hypothyroidism, Hydronephrosis OMIM:222300
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Pancreatic Agenesis 2
Diabetes mellitus, Small for gestational age, Exocrine pancreatic insufficiency, Steatorrhea, Pan... OMIM:615935
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Classic Hodgkin Lymphoma
Fever, Hepatomegaly, Anorexia, Splenomegaly, Hyperhidrosis, Weight loss ORPHA:391
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Hydronephrosis, Edema OMIM:607598
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Trisomy 13
Cataract, Abnormality of the ureter, Hydrops fetalis, Hydronephrosis, Aplasia/Hypoplasia of the i... ORPHA:3378
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia OMIM:615160
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Abnormality of temperature regulation, Weight loss ORPHA:42642
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Small for gestational age, Hypothermia OMIM:618775
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder ORPHA:2571
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Dexamethasone-suppressible pri... ORPHA:251274
Zellweger Syndrome
Multicystic kidney dysplasia, Posterior embryotoxon, Hypospadias, Abnormal chorioretinal morpholo... ORPHA:912
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Propionic Acidemia
Hepatomegaly, Hypoglycemia ORPHA:35
Huntington Disease-Like 2
Weight loss ORPHA:98934
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Anorexia, Constipation, Polydipsia ORPHA:223
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Hydronephrosis, Abnormality of the upper uri... ORPHA:873
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo... ORPHA:73272
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Hyperhidrosis ORPHA:2151
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Insulin resistance, Flexion cont... OMIM:613327
Menkes Disease
Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Hernia, Prolonged neonatal... ORPHA:565
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Adrenocorticotropic ho... OMIM:615926
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal hypoplasia, Anorexia, P... ORPHA:95409
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myopic astigmatism, Hydronephrosis, Developmental cataract OMIM:620141
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Failure to thrive, Hypoglycemia, Hypothermia ORPHA:79282
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia OMIM:261750
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Adrenal cal... ORPHA:85138
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Urinary urgency, Vomiting, Urinary hesitancy, Nocturia OMIM:609727
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia, Cataract ORPHA:1745
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Hypospadias, Polyhydramnios, Hydrops fetalis, Pleural effusion, Microp... OMIM:616897
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis OMIM:613735
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... OMIM:248370
Plague
Anorexia, Edema, Hematemesis, Diarrhea, Enterocolitis, Bloody diarrhea, Inflammation of the large... ORPHA:707
Spastic Paraplegia 11, Autosomal Recessive
Urinary incontinence, Obesity, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfunction OMIM:604360
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97280
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... ORPHA:131
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cachexia, Distal arthrogryposis, Hepatic steatosis ORPHA:42
Spastic Paraplegia 4, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:182601
Whipple Disease
Gastrointestinal hemorrhage, Anorexia, Diarrhea, Uveitis, Pedal edema, Polydipsia, Hypothyroidism ORPHA:3452
Renpenning Syndrome
Diabetes mellitus, Cachexia ORPHA:3242
Spastic Paraplegia 10, Autosomal Dominant
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:604187
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Fever, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increas... ORPHA:90790
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia ORPHA:50251
Bronchial Neuroendocrine Tumor
Hepatomegaly, Elevated circulating growth hormone concentration, Anorexia, Increased circulating ... ORPHA:97287
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... OMIM:618612
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Failure to... OMIM:602579
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Increased nuchal translucency, Renal hypoplasia, Constipation, Gastroe... OMIM:618494
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Rett Syndrome
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... ORPHA:778
Spastic Paraplegia 16, X-Linked
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence OMIM:300266
Riboflavin Transporter Deficiency
Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Diabetes insipidus ORPHA:97229
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Congenital Enterovirus Infection
Fever, Hypothermia, Hepatitis, Cholestasis ORPHA:292
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Panhypophysitis
Decreased circulating cortisol level, Nausea, Reduced circulating prolactin concentration, Adreno... ORPHA:95513
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... ORPHA:99885
Menkes Disease
Hypothermia OMIM:309400
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Polyhydramnios, Abnormality of the urethra, Abnormality of the urinary system, A... ORPHA:158684
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Small for gestational age, Corneal opacity, Polyhydram... OMIM:301056
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... OMIM:615812
Familial Dysautonomia
Glomerulopathy, Renal insufficiency, Corneal opacity, Abnormality of the kidney, Abnormal pupil m... ORPHA:1764
Multiple Sclerosis, Susceptibility To
Urinary hesitancy, Urinary incontinence OMIM:126200
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... OMIM:616113
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia ORPHA:5
Immunodeficiency 27A
Fever, Anorexia, Splenomegaly, Weight loss, Hepatosplenomegaly OMIM:209950
Bickerstaff Brainstem Encephalitis
Anisocoria, Mydriasis ORPHA:79138
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglyc... ORPHA:71212
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... ORPHA:199296
Acute Monoblastic/Monocytic Leukemia
Fever, Weight loss, Anorexia, Central hypothyroidism ORPHA:514
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Hashimoto thyroiditis, Renovascular hypertension, Renal tubular epi... ORPHA:49041
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism OMIM:613677
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia OMIM:618838
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Anorex... ORPHA:97278
East Syndrome
Polydipsia, Hyperaldosteronism, Salt craving ORPHA:199343
Pancreatitis, Hereditary
Fever, Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreati... OMIM:167800
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Focal Myositis
Fever, Weight loss ORPHA:48918
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia ORPHA:664
Yao Syndrome
Diarrhea, Xerostomia, Nephrolithiasis, Weight loss, Keratoconjunctivitis sicca OMIM:617321
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Chronic constipation, Hydronephrosis OMIM:618060
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Weight loss, Oral-pharyngeal dysphagia ORPHA:98897
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Nausea ORPHA:369929
Parkinson Disease 6, Autosomal Recessive Early-Onset
Urinary urgency OMIM:605909
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumo... ORPHA:100080
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Nausea ORPHA:231580
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Edema, Renal cyst, Dehydration, Gastrointestinal inflammation, Aplasia/Hypopl... ORPHA:79404
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Adrenocorticotropin receptor defect, Anisocoria, Adrenal in... OMIM:231550
Joubert Syndrome 37
Micropenis, Hydronephrosis, Obesity OMIM:619185
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Central adre... ORPHA:488632
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... ORPHA:171876
Alagille Syndrome
Keratoconus, Corneal dystrophy, Renal hypoplasia/aplasia, Abnormal pupil morphology, Abnormality ... ORPHA:52
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased ... OMIM:203800
Noonan Syndrome 4
Ureteral duplication, Polyhydramnios, Large for gestational age, Blue irides, Hydronephrosis OMIM:610733
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Poems Syndrome
Diabetes mellitus, Lipodystrophy, Abnormality of the endocrine system, Primary adrenal insufficie... ORPHA:2905
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Hec Syndrome
Abnormal pupil morphology, Polyhydramnios, Developmental cataract ORPHA:2119
Autosomal Recessive Spastic Paraplegia Type 48
Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:306511
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Edema, Failure to thrive, Hydronephrosis, Exocrine pancreatic i... ORPHA:2315
Porphyria, Acute Intermittent
Urinary incontinence, Dysuria, Diarrhea, Paralytic ileus, Constipation, Respiratory paralysis, Vo... OMIM:176000
Autosomal Dominant Spastic Paraplegia Type 73
Urinary urgency, Urinary incontinence ORPHA:444099
Distal Triplication 15Q
Abnormality of the kidney, Corneal dystrophy, Large for gestational age, Dilatation of the renal ... ORPHA:314588
Congenital-Onset Steinert Myotonic Dystrophy
Neonatal respiratory distress, Encopresis, Diarrhea, Obesity, Enuresis, Gastroesophageal reflux, ... ORPHA:589821
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Secondary Short Bowel Syndrome
Cholestasis, Central hypothyroidism, Weight loss, Primary hypothyroidism, Steatorrhea, Failure to... ORPHA:95427
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hepatomegaly, Hypothermia, Dysphagia, Failure to thrive ORPHA:255210
Wilson Disease
Hepatomegaly, Aggressive behavior, Splenomegaly, Jaundice, Hypersexuality, Hepatitis, Increased b... ORPHA:905
Leishmaniasis
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Recurrent fever ORPHA:507
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Macrovesicu... ORPHA:298
Anaplastic Thyroid Carcinoma
Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter ORPHA:142
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Hernia, Weight loss ORPHA:26790
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Grfoma
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... ORPHA:97261
Metachromatic Leukodystrophy, Adult Form
Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,... ORPHA:309271
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Cataract, Renal hypoplasia/aplasia, Microcornea, Chorioretinal coloboma... ORPHA:568
Septo-Optic Dysplasia Spectrum
Polydipsia, Constipation, Hypohidrosis ORPHA:3157
Celiac Disease, Susceptibility To, 1
Thyroiditis, Steatorrhea, Weight loss, Delayed puberty, Type I diabetes mellitus, Enamel hypoplas... OMIM:212750
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Hypothermia, Flexion contracture, Decreased sweating due to autonomic dysfunction, Dy... ORPHA:99027
Igg4-Related Aortitis
Intestinal obstruction, Hydronephrosis, Weight loss ORPHA:449400
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Trisomy 17P
Hypoplasia of penis, Urethral valve, Cataract, Urethral stenosis, Polycystic kidney dysplasia, Hy... ORPHA:261290
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Hyperhid... ORPHA:813
Takayasu Arteritis
Fever, Weight loss, Anorexia, Hyperhidrosis ORPHA:3287
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Spastic Paraplegia 30, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:610357
Atypical Werner Syndrome
Hepatic steatosis, Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Abnor... ORPHA:79474
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ... OMIM:609069
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Fatal Familial Insomnia
Fever, Weight loss, Dysphagia, Hyperhidrosis OMIM:600072
Marburg Hemorrhagic Fever
Fever, Hypoglycemia, Hypothermia, Anorexia, Orchitis, Aggressive behavior, Jaundice, Pancreatitis ORPHA:99826
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestational age, Glycosuria OMIM:616026
Paraparetic Variant Of Guillain-Barré Syndrome
Urinary bladder sphincter dysfunction ORPHA:231445
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Dehydration, Abnormal cornea morphology, Constipation, Vomitin... ORPHA:411629
Suleiman-El-Hattab Syndrome
Failure to thrive, Hydronephrosis OMIM:618950
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Cataract, Renal agenesis, Microcornea, Iris coloboma, Hydronephrosis ORPHA:1297
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Polyhydramnios, Hydronephrosis, Enlarged kidney OMIM:314390
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Elevated... OMIM:617253
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Increased hepatic echogenicity, Fasting hypoglycemia, Impaired glucon... OMIM:261680
Teratoma, Pineal
Polydipsia OMIM:273120
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Rhabdoid Tumor
Fever, Neoplasm of the liver, Weight loss ORPHA:69077
Acro-Renal-Ocular Syndrome
Renal malrotation, Cataract, Renal hypoplasia/aplasia, Horseshoe kidney, Microcornea, Bladder div... ORPHA:959
Christianson Syndrome
Cachexia, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex congenita, Abnormal repetit... ORPHA:85278
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma, Polyhydramnios ORPHA:3374
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity OMIM:615989
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Vomiting, Hydronephrosis OMIM:300048
Allergic Bronchopulmonary Aspergillosis
Low-grade fever, Weight loss ORPHA:1164
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fever, Panniculitis, Weight loss, Hepatosplenomegaly ORPHA:86884
Spastic Paraplegia Type 2
Spastic/hyperactive bladder, Bowel incontinence, Pulmonary embolism ORPHA:99015
Autosomal Dominant Spastic Paraplegia Type 36
Urinary urgency, Urinary incontinence ORPHA:320365
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis, Decreased response to growth hormone stimulation test OMIM:220210
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Hypospadias, Decreased response to growth hormone stimulation test, Polycoria, Mi... OMIM:180500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Intestinal obstruction, Renal insufficiency, Proteinuria, Renal inte... ORPHA:85450
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Polyhydramnios, E... ORPHA:887
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Dehydration, Ectopic kidney ORPHA:634
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Tongue thrusting, Intermittent hypothermia, Hyperhidrosis OMIM:608643
Alexander Disease
Microcoria OMIM:203450
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Hyperhidrosis ORPHA:99868
Nodular Non-Suppurative Panniculitis
Fever, Hepatomegaly, Splenomegaly, Weight loss, Panniculitis ORPHA:33577
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Polyhydramnios, Bladder trabeculation, Large for gesta... OMIM:614080
Trisomy 1Q
Multicystic kidney dysplasia, Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Con... ORPHA:261344
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumo... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumo... ORPHA:100082
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Cataract, Long-chain dicarboxylic aciduria, Diarrhea, ... OMIM:608836
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis OMIM:235700
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Failure to thrive, Hydronephrosis ORPHA:488613
Craniotubular Dysplasia, Ikegawa Type
Mydriasis OMIM:619727
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Corneal opa... ORPHA:464311
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Urinary urgency ORPHA:314603
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Immunodeficiency 31C
Fever, Hepatomegaly, Diabetes mellitus, Splenomegaly, Weight loss, Delayed puberty, Hypothyroidism OMIM:614162
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Failure to thrive, Hydronephrosis, Oligo... OMIM:617093
Kury-Isidor Syndrome
Astigmatism, Hydronephrosis OMIM:619762
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Erythermalgia, Primary
Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation OMIM:133020
Spinocerebellar Ataxia 42
Urinary urgency, Urinary incontinence, Dysphagia OMIM:616795
Kaposi Sarcoma
Fever, Abnormality of the spleen, Abnormality of the liver, Weight loss ORPHA:33276
3C Syndrome
Hypoplasia of penis, Hypospadias, Gastroesophageal reflux, Chorioretinal coloboma, Iris coloboma,... ORPHA:7
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Koolen-De Vries Syndrome
Ureteral duplication, Cataract, Hypospadias, Vesicoureteral reflux, Hypothyroidism, Hydronephrosi... ORPHA:96169
Pierson Syndrome
Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Proteinuria, Hypoplasia of the ciliary bod... OMIM:609049
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating aldosterone level ORPHA:320
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Hyperpituitarism, Anterior hypopituitarism, Panhypopituitarism, Increased circulating... ORPHA:91351
Amyotrophic Lateral Sclerosis
Fatigable weakness of bulbar muscles, Xerostomia, Fatigable weakness of swallowing muscles, Agita... ORPHA:803
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Neuroleptic Malignant Syndrome
Fever, Hypothermia, Hyperhidrosis, Agitation, Dysphagia ORPHA:94093
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hypohidrosis, Anisocoria, Adrenal insufficiency, Dysphagia, Achalasia OMIM:615510
Microcephaly 26, Primary, Autosomal Dominant
Chronic constipation, Failure to thrive, Hydronephrosis OMIM:619179
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Failure to thrive, Hypoglycemia OMIM:210200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hepatocellular adenoma, Cholestas... ORPHA:264580
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Microcornea, Gastroesophageal reflux, Constipation, Hydronephrosis OMIM:616449
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Corneal scarring, Buphthalmos, Dysphagia, Pet... OMIM:618460
Huntington Disease-Like 2
Weight loss OMIM:606438
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bowel incontinence, Obesity, Renal cyst, G... ORPHA:261494
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... ORPHA:769
Nephroblastoma
Fever, Neoplasm of the liver, Weight loss ORPHA:654
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Fetal megacystis, Constipation ORPHA:73246
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Anorexia, Intermittent jaundice, W... ORPHA:100085
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Palpebral edema, Abnormality of the upper urinary tract, Microcornea, Iris coloboma,... ORPHA:2995
Adult Polyglucosan Body Disease
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence ORPHA:206583
Cholestasis, Progressive Familial Intrahepatic, 5
Jaundice, Failure to thrive, Hypoglycemia, Cirrhosis OMIM:617049
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia OMIM:270150
Cutis Laxa, Autosomal Recessive, Type Ia
Bladder diverticulum, Oligohydramnios OMIM:219100
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Fructose-1,6-Bisphosphatase Deficiency
Fever, Hepatomegaly, Hypoglycemia OMIM:229700
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Pelvic kidney, Hydronephrosis OMIM:613001
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Spastic Paraplegia 7, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Dysphagia OMIM:607259
Klatskin Tumor
Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Slender build, Hydronephrosis ORPHA:364028
Spastic Paraplegia 80, Autosomal Dominant
Urinary urgency OMIM:618418
Autosomal Recessive Spastic Paraplegia Type 15
Pseudobulbar paralysis, Functional abnormality of the bladder ORPHA:100996
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Fasciitis, Nail-biting, Hyperactivity, Hypothermia, Impulsivity, Corneal scarring, Hy... ORPHA:642
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... OMIM:176270
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Short attention span, Progressive psychomotor deterioration,... ORPHA:309263
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... ORPHA:90794
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Obesity, Anisocoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis, Oligohydra... OMIM:618653
X-Linked Agammaglobulinemia
Fever, Hepatitis, Weight loss, Cellulitis, Failure to thrive ORPHA:47
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Polyhydramnios, Edema, Failure to thrive, Hydronephrosis OMIM:302960
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Stromme Syndrome
Cataract, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Hydronephrosis, Peters anomaly, ... OMIM:243605
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Jaundice, Hepatitis, Chole... ORPHA:198
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Hyperparathyroidism, Neonatal Severe
Polydipsia, Primary hyperparathyroidism, Constipation OMIM:239200
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cataract, Hypospadias, Brushfield spots, Albuminuria, Aminoaciduria, Opacification of the corneal... OMIM:214100
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Roussy-Lévy Syndrome
Urinary bladder sphincter dysfunction ORPHA:3115
Duane-Radial Ray Syndrome
Renal malrotation, Cataract, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral r... OMIM:607323
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Congestive heart failure,... OMIM:615512
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Failure to thrive, Hernia, Weight loss ORPHA:1842
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia OMIM:618835
Majeed Syndrome
Fever, Hepatomegaly, Cachexia, Splenomegaly, Flexion contracture, Weight loss, Failure to thrive ORPHA:77297
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia OMIM:618839
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
Osteosarcoma
Fever, Weight loss ORPHA:668
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Fever, Abnormality of the pancreas, Liver abscess, Weight loss ORPHA:54251
Primary Myelofibrosis
Fever, Hepatomegaly, Portal hypertension, Anorexia, Cachexia, Splenomegaly, Low-grade fever, Hepa... ORPHA:824
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Abnormal parathyroid morphology, Weight l... ORPHA:143
Micro Syndrome
Hypoplasia of penis, Cataract, Abnormal localization of kidney, Microcornea, Hydronephrosis ORPHA:2510
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Episodic hyperhidrosis, Paraganglioma, Weight loss ORPHA:94080
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
1Q21.1 Microdeletion Syndrome
Cataract, Hydronephrosis, Vesicoureteral reflux, Failure to thrive, Iris coloboma ORPHA:250989
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... ORPHA:508
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Corneal opacity, Polyhydramnios, Hydrops fetalis, Horseshoe... ORPHA:99776
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Pedal edema, Tubulointerstitial nephr... ORPHA:449395
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Corneal opa... ORPHA:464306
Spastic Paraplegia 15, Autosomal Recessive
Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Bowel incontinence OMIM:270700
Cryptogenic Organizing Pneumonia
Fever, Anorexia, Weight loss ORPHA:1302
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Corneal erosion, Conjunctivitis, Dysphagia, Polydipsia, Pancreatitis ORPHA:537
Small Cell Carcinoma Of The Bladder
Hematuria, Recurrent urinary tract infections, Dysuria ORPHA:284400
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Anorexia, Increased circulating ACTH level, Weight loss, Increased serum serotonin,... ORPHA:100075
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Cataract, Small for gestational age, Vesicoureteral reflux, F... OMIM:610443
Ethylene Glycol Poisoning
Addictive alcohol use, Hypothermia ORPHA:31826
Mckusick-Kaufman Syndrome
Hydroureter, Edema, Pedal edema, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis OMIM:236700
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Pneumonia, Myoca... ORPHA:781
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary urgency, Urinary incontinence OMIM:612319
Caroli Disease
Fever, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexi... ORPHA:53035
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Polyhydramnios, Gastroesophageal refl... ORPHA:2059
Erdheim-Chester Disease
Renal insufficiency, Dysuria, Hyperhidrosis, Weight loss, Joint swelling, Pleural effusion, Hydro... ORPHA:35687
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to growth hormone s... OMIM:129900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Lymphedema, Ectopic kidney, Periorbital edema, Pericardial effusion, H... OMIM:235510
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Hepatomegaly, Fever, Weight loss ORPHA:3226
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Hydron... OMIM:611209
Autosomal Dominant Spastic Paraplegia Type 8
Urinary urgency, Urinary incontinence ORPHA:100989
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bladder diverticulum OMIM:617821
Carpenter Syndrome 1
Hydroureter, Obesity, Microcornea, Opacification of the corneal stroma, Hydronephrosis OMIM:201000
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Hyperaldosteronism, Salt craving OMIM:612780
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hypothyroidism, Increased nuchal translucency, Gastroesophageal reflux, Constipation, Vesicourete... ORPHA:453499
Spinocerebellar Ataxia 25
Urinary urgency, Vomiting OMIM:608703
Tarp Syndrome
Failure to thrive, Hydronephrosis, Horseshoe kidney, Oligohydramnios OMIM:311900
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia, Ker... ORPHA:1896
Primary Sclerosing Cholangitis
Fever, Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomeg... ORPHA:171
Cat Eye Syndrome
Renal agenesis, Horseshoe kidney, Chorioretinal coloboma, Vesicoureteral reflux, Iris coloboma, H... OMIM:115470
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss ORPHA:83469
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Polymyositis
Fever, Hepatomegaly, Anorexia, Weight loss, Chondrocalcinosis ORPHA:732
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Vesicoureteral reflux, Crossed... OMIM:300707
Sarcoidosis
Fever, Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Scarring, Portal hypertension, Hypother... ORPHA:797
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Astigmatism, Constipati... ORPHA:2953
Duane Retraction Syndrome
Central heterochromia, Ectopic kidney, Abnormal pupil morphology, Microcornea, Hypoplastic iris s... ORPHA:233
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Hydronephrosis OMIM:620327
Autosomal Dominant Spastic Paraplegia Type 41
Urinary urgency ORPHA:320355
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Renal arter... OMIM:617913
Nephronophthisis 4
Polydipsia OMIM:606966
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Congenital Myopathy 17
Failure to thrive in infancy, Polyhydramnios, Renal hypoplasia, Ureteropelvic junction obstructio... OMIM:618975
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Corneal opacity, Renal hypoplasia/aplasia, Ectopia lentis, Horsesho... ORPHA:2092
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Anorexia, Precocious puberty, Jaundice, Weight loss, Pancreatitis ORPHA:370348
Autosomal Dominant Spastic Paraplegia Type 3
Urinary urgency ORPHA:100984
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Facial Spasm
Anisocoria OMIM:134300
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary retention, Abnormality of the urethra, Urinary incontinence ORPHA:2795
Knobloch Syndrome 1
Duplicated collecting system, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Ir... OMIM:267750
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Chorioretinal dysplasia, Abnormal pupil morphology, Dehydration, Oligosaccha... ORPHA:534
Baller-Gerold Syndrome
Failure to thrive in infancy, Abnormality of the ureter, Abnormal localization of kidney, Vesicou... ORPHA:1225
Gitelman Syndrome
Polydipsia, Constipation, Salt craving, Vomiting OMIM:263800
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Idiopathic Bronchiectasis
Fever, Cachexia ORPHA:60033
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic ki... ORPHA:2237
Juvenile Nephropathic Cystinosis
Dehydration, Abnormal cornea morphology, Vomiting, Corneal crystals, Polydipsia, Hypothyroidism ORPHA:411634
Foix-Alajouanine Syndrome
Neurogenic bladder, Urinary incontinence, Bowel incontinence, Functional abnormality of the bladd... ORPHA:79093
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Pseudoleprechaunism Syndrome, Patterson Type
Bladder diverticulum, Joint swelling ORPHA:2976
Senior-Boichis Syndrome
Aggressive behavior, Agitation, Attention deficit hyperactivity disorder, Polydipsia, Ascites ORPHA:84081
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Polyhydramnios, Lymphedema, Micropenis, Ascites, Hydronephrosis OMIM:235255
Pelvis-Shoulder Dysplasia
Microcornea, Iris coloboma, Hydronephrosis ORPHA:2839
Trichinellosis
Edema, Facial edema, Periorbital edema, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Dys... ORPHA:863
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Biliary t... ORPHA:2869
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Polyhydramnios, Dysphagia, Failure to thrive, Hydronephrosis ORPHA:261349
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis, Esophagitis, Oligohydramnios ORPHA:541423
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Sheehan Syndrome
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... ORPHA:91355
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... OMIM:619418
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Self-injurious behavior, Ectopia ... ORPHA:96125
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Diarrhea, Urinary urgency, Hematuria, Cough, ... ORPHA:556
Carney-Stratakis Syndrome
Weight loss, Paraganglioma, Dysphagia ORPHA:97286
Eosinophilic Fasciitis
Fasciitis, Weight loss, Cellulitis ORPHA:3165
Polyarteritis Nodosa
Fever, Weight loss ORPHA:767
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Failure to thrive, Gastroesophageal reflux, Hydronephrosis OMIM:608779
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, C... ORPHA:100086
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Small for gestational age, Chronic... OMIM:307030
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Acute pancreatitis, Portal hypertension, Hypothyroidism, Hepatosplenomegaly, Weight... OMIM:619487
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Cataract, Hydronephrosis ORPHA:35173
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Narcolepsy, Dementia OMIM:604121
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas physiology, Polydi... ORPHA:93111
Spastic Paraplegia Type 7
Urinary urgency, Dysphagia ORPHA:99013
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Attention deficit hyperactivity disorder, Dysphagia ORPHA:216866
Hereditary Motor And Sensory Neuropathy, Type Iic
Urinary incontinence, Stridor, Urinary urgency, Respiratory failure, Intercostal muscle weakness OMIM:606071
Pallister-Hall Syndrome
Renal dysplasia, Decreased circulating cortisol level, Hydroureter, Decreased response to growth ... OMIM:146510
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Anorexia, Diarrhea, Xerostomia, Hematochezia, Vomiting OMIM:175500
Trisomy 18
Cataract, Cachexia, Abnormality of the upper urinary tract, Microcornea, Hydronephrosis, Iris col... ORPHA:3380
Pulmonary Non-Tuberculous Mycobacterial Infection
Fever, Weight loss ORPHA:411703
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Sclerocornea, Microcornea, Ectopia pupillae OMIM:615877
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Xanthelasma, Fasting hypogl... OMIM:232200
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Cataract, Abnormality of thyroid physiology, Astigmatism, Hydronephrosis OMIM:300968
Triploidy
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas ORPHA:3376
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Pandas
Enuresis, Encopresis ORPHA:66624
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Neonatal respiratory distress, Abnormality of the pancreas, Jaundi... ORPHA:69665
Congenital Fibrosis Of Extraocular Muscles
Cataract, Miosis, Anisocoria, Abnormal pupil shape, Vomiting, Slow pupillary light response ORPHA:45358
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Gastroesophageal reflux, Hydronephrosis ORPHA:457193
Hyperphosphatasia-Intellectual Disability Syndrome
Shallow anterior chamber, Hydronephrosis, Oligohydramnios ORPHA:247262
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothermia, Precocious puberty, Abnormality of the endocrine system, Abnormality of the anterior... ORPHA:438213
Nephronophthisis 1
Polydipsia OMIM:256100
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Corneal crystals, Dehydration, Hypohidrosis, Primary hypothyroidism, D... OMIM:219800
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Constipation, Dysuria, Dysphagia ORPHA:101000
Eosinophilic Gastroenteritis
Weight loss, Dysphagia, Steatorrhea ORPHA:2070
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Cachexia, Anorexia ORPHA:2930
Autosomal Dominant Spastic Paraplegia Type 37
Urinary urgency ORPHA:171612
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... ORPHA:79233
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... ORPHA:144
Pure Autonomic Failure
Dysuria, Constipation, Urinary incontinence ORPHA:441
Oligomeganephronia
Polydipsia, Dehydration ORPHA:2260
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Cataract, Unilateral renal agenesis, Renal ... ORPHA:90324
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Drug Reaction With Eosinophilia And Systemic Symptoms
Fever, Hepatitis, Thyroiditis, Weight loss ORPHA:139402
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis, Lymphedema OMIM:616737
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Short attention span, Hepatomegaly, EEG with central focal spikes... OMIM:301066
Spastic Paraplegia 78, Autosomal Recessive
Urinary urgency OMIM:617225
Oromandibular Dystonia
Weight loss, Dysphagia, Bruxism ORPHA:93958
Otopalatodigital Syndrome Type 2
Cataract, Hypospadias, Ureteral obstruction, Developmental glaucoma, Failure to thrive, Hydroneph... ORPHA:90652
Mcdonough Syndrome
Cachexia ORPHA:2471
Ketamine-Induced Biliary Dilatation
Dysuria ORPHA:293807
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi... ORPHA:3464
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Developmental cataract, Microcornea, Male urethral meatus stenosis, Constipation, Hy... ORPHA:464738
Isolated Succinate-Coq Reductase Deficiency
Weight loss, Knee flexion contracture ORPHA:3208
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Perry Syndrome
Weight loss ORPHA:178509
Ileal Neuroendocrine Tumor
Edema, Weight loss, Hydronephrosis, Intermittent diarrhea, Episodic vomiting, Nausea ORPHA:100078
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Polyhydramnios, Abnormal renal morphology, Micropenis, Ascites, Hydronephrosis ORPHA:1655
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Edema, Hydrops fetalis, Hyperaldosteronism, Polydipsia OMIM:602522
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Fever, Weight loss ORPHA:79127
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Cachexia OMIM:616801
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Distal Renal Tubular Acidosis
Diarrhea, Dehydration, Constipation, Vomiting, Polydipsia ORPHA:18
Acute Intermittent Porphyria
Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Diarrhea, Ileus, Respiratory insu... ORPHA:79276
Cardiofaciocutaneous Syndrome 1
Polyhydramnios, Hyperhidrosis, Vomiting, Gastroesophageal reflux, Constipation, Failure to thrive... OMIM:115150
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ... ORPHA:85293
Alveolar Echinococcosis
Fever, Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morp... ORPHA:284
Autosomal Dominant Spastic Paraplegia Type 12
Urinary urgency, Urinary incontinence, Bowel incontinence ORPHA:100993
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin OMIM:614008
Mosaic Trisomy 8
Vesicoureteral reflux, Corneal opacity, Hydronephrosis ORPHA:96061
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... ORPHA:440437
Giant Cell Arteritis
Fever, Anorexia, Weight loss, Hyperhidrosis, Diabetes insipidus ORPHA:397
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyr... ORPHA:109
Proximal Renal Tubular Acidosis
Cataract, Band keratopathy, Diarrhea, Dehydration, Vomiting, Polydipsia ORPHA:47159
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Self-injurious be... ORPHA:371364
Proteus-Like Syndrome
Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis ORPHA:2969
Gm1 Gangliosidosis
Inguinal hernia, Camptodactyly of finger, Splenomegaly, Hepatosplenomegaly, Weight loss, Dysphagi... ORPHA:354
Acute Promyelocytic Leukemia
Fever, Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Aggressive Systemic Mastocytosis
Anorexia, Portal hypertension, Hypersplenism, Weight loss, Hepatosplenomegaly ORPHA:98850
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Microcornea, Bladder diverticulum, Polyhydramnios OMIM:614557
Rheumatoid Arthritis
Fever, Weight loss OMIM:180300
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Holocarboxylase Synthetase Deficiency
Anorexia, Weight loss ORPHA:79242
Autosomal Recessive Spastic Paraplegia Type 77
Neurogenic bladder, Sudden episodic apnea, Urinary incontinence, Detrusor sphincter dyssynergia, ... ORPHA:466722
Glucose-Galactose Malabsorption
Fever, Failure to thrive, Weight loss ORPHA:35710
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Leukocoria, Displacement of the urethral meatus, Ascites, Hypothyro... ORPHA:1556
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Adrenal calcification, Cachexia, Hypersplenism, Microvesicular hepatic stea... ORPHA:275761
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Urinary urgency, Dysphagia OMIM:601338
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Gastroesophageal reflux, Constipation, Ve... OMIM:616580
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Gastroesophageal reflux, Constipation, Micropenis, Hydronephrosis OMIM:301040
Genitopatellar Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Hydronephrosis ORPHA:85201
Malt Lymphoma
Abnormality of the thyroid gland, Fever, Weight loss, Hyperhidrosis ORPHA:52417
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... ORPHA:99827
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Obesity, Enuresis, Chronic constipation, Astigmatism, Hyd... ORPHA:96121
Lymphoid Interstitial Pneumonia
Fever, Hepatomegaly, Weight loss, Abnormality of connective tissue, Failure to thrive ORPHA:79128
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Gastrointestinal hemorrhage, Microcornea, Bladder diverticulum, Decreased urinary ly... OMIM:225400
Distal Deletion 10Q
Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Failure... ORPHA:96148
Hyperparathyroidism-Jaw Tumor Syndrome
Primary hyperparathyroidism, Constipation, Dysphagia, Polydipsia, Pancreatitis ORPHA:99880
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Tonic pupil, Abnormal pupil morphology, Slow pupillary light response ORPHA:90658
Gitelman Syndrome
Salt craving, Pericardial effusion, Diarrhea, Hyperhidrosis, Constipation, Primary hyperaldostero... ORPHA:358
Hypomagnesemia 3, Renal
Polydipsia, Astigmatism OMIM:248250
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,... ORPHA:900
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Pericardial effusion, Diarrhea, Hydrops fetalis, ... ORPHA:79328
Microsporidiosis
Fever, Cholangitis, Anorexia, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid... ORPHA:2552
Methanol Poisoning
Diarrhea, Vomiting, Addictive alcohol use ORPHA:31825
Autosomal Dominant Spastic Paraplegia Type 19
Urinary urgency ORPHA:100999
Mitochondrial Complex I Deficiency, Nuclear Type 32
Failure to thrive, Small for gestational age, Vomiting, Patent urachus OMIM:618252
Idiopathic Chronic Eosinophilic Pneumonia
Fever, Weight loss ORPHA:2902
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Failure to thrive, Hydronephrosis, Cataract ORPHA:444072
Reynolds Syndrome
Xerostomia, Keratoconjunctivitis sicca, Gastroesophageal reflux, Dysphagia, Ascites ORPHA:779
Glycogen Storage Disease Ib
Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlip... OMIM:232220
Thymoma
Fever, Neoplasm of the thyroid gland, Weight loss ORPHA:99867
Tyrosinemia, Type I
Fever, Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, He... OMIM:276700
Cln3 Disease
Urinary bladder sphincter dysfunction, Dysphagia ORPHA:228346
Al Amyloidosis
Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Abnormality of the kidney, Gastrop... ORPHA:85443
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Chronic diarrhea, Ureteral obstruction OMIM:304150
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Pelizaeus-Merzbacher Disease
Urinary urgency, Failure to thrive, Dysphagia, Congenital laryngeal stridor OMIM:312080
Wolfram Syndrome
Gastrointestinal hemorrhage, Polydipsia, Constipation ORPHA:3463
Spastic Paraplegia 20, Autosomal Recessive
Urinary urgency, Chronic constipation, Dysphagia OMIM:275900
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Blepharophimosis-Impaired Intellectual Development Syndrome
Recurrent urinary tract infections, Hypospadias, Recurrent pneumonia, Enuresis, Gastroesophageal ... OMIM:619293
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the pancreas, Jaundic... ORPHA:400
Agel Amyloidosis
Cataract, Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Keratoconjunctivitis si... ORPHA:85448
Postorgasmic Illness Syndrome
Xerostomia, Hyperhidrosis ORPHA:279947
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction ORPHA:320401
Cutis Laxa, Autosomal Recessive, Type Ic
Periorbital edema, Gastroesophageal reflux, Multiple bladder diverticula, Ascites, Hydronephrosis OMIM:613177
Williams-Beuren Syndrome
Recurrent urinary tract infections, Renal insufficiency, Failure to thrive in infancy, Abnormal r... OMIM:194050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Increased nuchal translucency, Hypertrophy of the urinary bladder, Unilateral renal ... ORPHA:280633
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph... ORPHA:29072
Tetrasomy 12P
Cachexia, Hypohidrosis ORPHA:884
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Gastroesophag... ORPHA:847
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Williams Syndrome
Hypoplasia of penis, Periorbital edema, Abnormal tubulointerstitial morphology, Nephrocalcinosis,... ORPHA:904
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Congenital Tufting Enteropathy
Weight loss, Cholestatic liver disease, Failure to thrive, Steatorrhea ORPHA:92050
White-Kernohan Syndrome
Hydroureter, Obesity, Horseshoe kidney, Gastroesophageal reflux, Hypothyroidism, Hydronephrosis OMIM:619426
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Cataract, Failure to thrive, Persistent pupillary membrane OMIM:257850
Microphthalmia, Syndromic 9
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis OMIM:601186
Monosomy 22Q13.3
Palpebral edema, Lymphedema, Obesity, Hypohidrosis, Hydronephrosis, Gastroesophageal reflux, Vesi... ORPHA:48652
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Marchiafava-Bignami Disease
Addictive alcohol use, Vomiting, Aggressive behavior ORPHA:221074
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Coats Disease
Leukocoria OMIM:300216
Spinocerebellar Ataxia 10
Urinary urgency, Urinary incontinence, Dysphagia OMIM:603516
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Cataract, Palpebral edema, Unilateral renal agenesis, Renal hypoplasia, Pyel... OMIM:181270
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis, Oligohydramnios OMIM:271520
Neuroblastoma, Susceptibility To, 1
Fever, Failure to thrive, Weight loss OMIM:256700
Spastic Ataxia 3, Autosomal Recessive
Urinary urgency, Neurogenic bladder OMIM:611390
Diffuse Alveolar Hemorrhage
Fever, Weight loss ORPHA:90060
Acute Lung Injury
Acute pancreatitis, Addictive alcohol use, Edema ORPHA:178320
Perlman Syndrome
Large for gestational age, Pancreatic islet-cell hyperplasia, Congenital diaphragmatic hernia, Hy... OMIM:267000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Adrenal ph... ORPHA:276621
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormality of the endocrine system, Spl... ORPHA:37042
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder ORPHA:349
Congenital Disorder Of Glycosylation, Type It
Chronic diarrhea, Vomiting, Hydronephrosis OMIM:614921
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia OMIM:618186
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Polyhydramnios, Large for gestational age, Ren... OMIM:229850
Cardiofaciocutaneous Syndrome
Failure to thrive in infancy, Hydronephrosis, Lymphedema ORPHA:1340
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Congenital hypothyroidism, Dysphagia, Ureteropelvic junction obstruction, Fai... OMIM:616973
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Polyhydramnios ORPHA:254528
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder ORPHA:2075
Systemic Capillary Leak Syndrome
Pancreatitis, Weight loss ORPHA:188
Felty Syndrome
Splenomegaly, Hepatomegaly, Weight loss, Cellulitis ORPHA:47612
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Trisomy 8P
Fetal pyelectasis, Nephrocalcinosis, Astigmatism, Constipation, Micropenis, Heterochromia iridis,... ORPHA:264450
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Hydronephrosis OMIM:617798
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Diarrhea, Dehydration, Hyperaldosteronism, Constipation, Vomiting, Polydipsia OMIM:241200
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cataract, Sclerocornea, Renal hyp... ORPHA:818
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Adrenoleukodystrophy
Urinary bladder sphincter dysfunction, Urinary incontinence, Bowel incontinence OMIM:300100
Ménétrier Disease
Anorexia, Weight loss ORPHA:2494
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fever, Weight loss ORPHA:324964
Pneumocystosis
Fever, Weight loss ORPHA:723
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Liposarcoma
Weight loss ORPHA:69078
Spastic Paraplegia 9A, Autosomal Dominant
Urinary urgency, Gastroesophageal reflux, Vomiting, Urinary incontinence OMIM:601162
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Weakness of muscles of respiration ORPHA:52430
Spastic Paraplegia 84, Autosomal Recessive
Urinary urgency, Crohn's disease OMIM:619621
Cap Polyposis
Weight loss ORPHA:160148
Antisynthetase Syndrome
Keratoconjunctivitis sicca, Xerostomia, Edema, Dysphagia ORPHA:81
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Small for gestational age, Dilatation of the renal pelvis, Stage 5 c... ORPHA:2044
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Hydronephrosis ORPHA:96092
Chronic Beryllium Disease
Weight loss ORPHA:133
Listeriosis
Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Myocarditis, Congestive heart failu... ORPHA:533
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Cholecystitis ORPHA:309256
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Small for gestational age, Decreased response to... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Small for gestational age, Decreased response to... ORPHA:363958
Alexander Disease Type Ii
Urinary bladder sphincter dysfunction, Dysphagia ORPHA:363722
Osteopetrosis With Renal Tubular Acidosis
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Secondary hyperparathyr... ORPHA:2785
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Cataract, Pyelonephritis, Urethral diverticulum, Multiple bla... ORPHA:90349
Superficial Siderosis
Anisocoria, Functional abnormality of the bladder, Vomiting, Nausea ORPHA:247245
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis, Obesity OMIM:619269
Adiposis Dolorosa
Diarrhea, Xerostomia, Obesity, Constipation, Hypothyroidism ORPHA:36397
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Liver abscess, Pneumonia, Allergic rhinitis, Cholangitis, Asthma, Recurrent pneu... ORPHA:183675
Distal Deletion 12Q
Failure to thrive in infancy, Ectopic kidney, Obesity, Polycystic kidney dysplasia, Vesicouretera... ORPHA:96149
Hypohidrotic Ectodermal Dysplasia
Xerostomia, Hypohidrosis, Nephrotic syndrome, Keratoconjunctivitis sicca, Failure to thrive ORPHA:238468
Spinal Arteriovenous Metameric Syndrome
Urinary bladder sphincter dysfunction, Abnormality of the kidney ORPHA:53721
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Xerostomia, Renal hypoplasia, Keratoconjunctivitis, Hydronephrosis, ... ORPHA:2363
Spastic Paraplegia 26, Autosomal Recessive
Urinary urgency OMIM:609195
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Bowel inco... ORPHA:573278
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Failure to thrive, Hydronephrosis, Urachus fistula OMIM:612541
Autosomal Dominant Cutis Laxa
Corneal opacity, Unilateral renal agenesis, Developmental cataract, Pyelonephritis, Bladder diver... ORPHA:90348
Dubowitz Syndrome
Hypoparathyroidism, Cataract, Hypospadias, Chronic diarrhea, Hydronephrosis ORPHA:235
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Xerostomia, Oliguria, Gastroesophageal reflux, Dysphagia ORPHA:220393
Niemann-Pick Disease Type C
Hepatomegaly, Progressive neurologic deterioration, Narcolepsy, Jaundice, Splenomegaly, Respirato... ORPHA:646
Arima Syndrome
Polydipsia, Chorioretinal coloboma OMIM:243910
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Cataract, Hypospadias, Renal ag... OMIM:270400
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Urinary urgency OMIM:619286
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Neurogenic bladder, Xerostomia OMIM:618527
Eosinophilic Granulomatosis With Polyangiitis
Fever, Weight loss, Dysphagia ORPHA:183
X-Linked Creatine Transporter Deficiency
Hyperactivity, Self-mutilation, Cachexia ORPHA:52503
Narcolepsy 3
Narcolepsy OMIM:609039
Stevens-Johnson Syndrome
Fever, Weight loss, Pancreatitis, Dysphagia ORPHA:36426
8P23.1 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Spinocerebellar Ataxia, Autosomal Recessive 7
Urinary urgency, Dysphagia OMIM:609270
Tarp Syndrome
Failure to thrive, Hydronephrosis, Horseshoe kidney ORPHA:2886
Amoebiasis Due To Entamoeba Histolytica
Fever, Liver abscess, Weight loss ORPHA:67
1P36 Deletion Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the kidney, Ocular albinism, Obesity, ... ORPHA:1606
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Decreased response to growth hormone stimulation test, Ectopia pupillae, Atte... OMIM:618223
Spinocerebellar Ataxia Type 13
Urinary urgency, Urinary incontinence, Dysphagia ORPHA:98768
Primary Fanconi Renotubular Syndrome
Weight loss, Hypoglycemia, Glycosuria ORPHA:3337
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Memory impairment, Narcolepsy, Mental deterioration ORPHA:314404
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Jacobsen Syndrome
Multicystic kidney dysplasia, Cataract, Microcornea, Hydronephrosis, Constipation, Iris coloboma ORPHA:2308
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Increased nuchal translucency, Episodic vomiting, Hyperhidrosis, Constipation, Ves... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Increased nuchal translucency, Episodic vomiting, Hyperhidrosis, Constipation, Ves... ORPHA:352665
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia, Dysphagia ORPHA:300605
Spinocerebellar Ataxia 2
Urinary bladder sphincter dysfunction, Urinary incontinence, Dysphagia OMIM:183090
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Constipation, Organic aciduria,... OMIM:619743
Cousin Syndrome
Microcornea, Hydronephrosis OMIM:260660
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Hydrourete... ORPHA:2970
Narcolepsy 1
Narcolepsy OMIM:161400
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Frontometaphyseal Dysplasia
Ureteral obstruction, Urethral stenosis, Abnormal cornea morphology, Astigmatism, Hydronephrosis ORPHA:1826
Acquired Aneurysmal Subarachnoid Hemorrhage
Vomiting, Addictive alcohol use, Hypopituitarism, Hypothyroidism, Nausea ORPHA:90065
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Cataract OMIM:618727
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Dyspnea, Splenomegaly, Hypovolemia, Elevated diastolic bl... ORPHA:90041
Arachnoiditis
Urinary bladder sphincter dysfunction ORPHA:137817
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Polyh... ORPHA:709
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hepatocellular carcinoma, Hyperlipidemia, Xanth... OMIM:232240
Opitz Gbbb Syndrome
Hypospadias, Abnormality of the urinary system, Dysphagia, Vesicoureteral reflux, Hydronephrosis ORPHA:2745
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Corneal opacity, Abnormality of the kidney, Abnormality of the upper urinary tract, ... ORPHA:2273
Spinocerebellar Ataxia Type 42
Urinary urgency, Urinary incontinence, Dysphagia ORPHA:458803
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... ORPHA:740
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypothyroidism OMIM:613673
Infantile Krabbe Disease
Temperature instability, Failure to thrive, Cachexia, Unexplained fevers ORPHA:206436
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Enamel-Renal Syndrome
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... ORPHA:1031
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Cataract, Hypospadias, Nephrolithiasis, Obesity, Abnormality ... ORPHA:353281
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
Nocardiosis
Fever, Liver abscess, Anorexia, Peritonitis, Thyroiditis, Weight loss, Abnormality of the adrenal... ORPHA:31204
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Failure to thrive, Hydronephrosis OMIM:269150
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Nonimmune hydrops fetalis, Polyhydramnios, Dilatation of the renal pelv... OMIM:265380
Kawasaki Disease
Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Jaundice, Hepatitis, Cholecystit... ORPHA:2331
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastritis, Xerostomia, Joint swelling, Keratoconjunctivitis sicca, G... ORPHA:809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane OMIM:613150
Parkinson Disease, Late-Onset
Urinary urgency, Constipation, Dysphagia OMIM:168600
Ramos-Arroyo Syndrome
Keratitis, Chorioretinal atrophy, Xerostomia, Choriocapillaris atrophy, Chronic constipation, Dec... ORPHA:1051
Rett Syndrome
Cachexia, Stereotypical hand wringing, Bruxism OMIM:312750
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Polydipsia, Ascites, Oligohydramnios ORPHA:731
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Card... ORPHA:98908
Autosomal Dominant Spastic Paraplegia Type 10
Urinary urgency, Spastic/hyperactive bladder ORPHA:100991
Glossopharyngeal Neuralgia
Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
Hereditary Late-Onset Parkinson Disease
Weight loss, Agitation, Impulsivity, Dysphagia ORPHA:411602
Kyphoscoliotic Ehlers-Danlos Syndrome
Microcornea, Bladder diverticulum ORPHA:536545
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Cardiac Valvular Dysplasia 1
Hydroureter, Edema, Hydrops fetalis, Urethral diverticulum, Hydronephrosis OMIM:212093
Schinzel-Giedion Syndrome
Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolithiasis, Renal cyst... ORPHA:798
Refractory Celiac Disease
Abnormal spleen physiology, Weight loss ORPHA:398063
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Cachexia, Anorexia ORPHA:1969
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis, Lymphedema ORPHA:487796
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic/hyperactive bladder ORPHA:137898
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Large for gestational age, Chorioretinal coloboma, Ureteropelvic ju... OMIM:280000
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Hydronephrosis, Diarrhea OMIM:251260
Apert Syndrome
Hydronephrosis, Hyperhidrosis OMIM:101200
Gabriele-De Vries Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal... ORPHA:506358
3Mc Syndrome 1
Conjunctival telangiectasia, Abnormal anterior chamber morphology, Hydronephrosis OMIM:257920
Citrullinemia Type Ii
Enuresis, Diarrhea, Vomiting, Decreased body mass index ORPHA:247585
Acrodermatitis Enteropathica
Failure to thrive, Anorexia, Weight loss ORPHA:37
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Hydromyelia, Opacification of the corneal stroma, Micropenis, Hydro... OMIM:615287
Classical Ehlers-Danlos Syndrome
Bladder diverticulum, Abnormal cornea morphology, Blepharochalasis, Vomiting, Gastroesophageal re... ORPHA:287
Narcolepsy 7
Narcolepsy OMIM:614250
Raine Syndrome
Hydroureter, Hydronephrosis OMIM:259775
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis, Exocrine pancreat... ORPHA:2750
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Gerstmann-Straussler Disease
Weight loss, Aggressive behavior OMIM:137440
Autoimmune Pulmonary Alveolar Proteinosis
Fever, Weight loss ORPHA:747
Loeffler Endocarditis
Weight loss ORPHA:75566
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Charge Syndrome
Polyhydramnios, Anterior hypopituitarism, Horseshoe kidney, Gastroesophageal reflux, Chorioretina... ORPHA:138
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Charcot-Marie-Tooth Disease Type 4C
Anisocoria, Failure to thrive, Abnormal pupillary light reflex ORPHA:99949
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Hepatomegaly, Fever, Weight loss ORPHA:98849
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Urinary bladder sphincter dysfunction ORPHA:43
Cirrhotic Cardiomyopathy
Conjunctival icterus, Peripheral edema, Addictive alcohol use, Ascites, Pulmonary edema ORPHA:57777
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss ORPHA:729
Okamoto Syndrome
Urinary incontinence, Unilateral renal hypoplasia, Astigmatism, Gastroesophageal reflux, Ureterop... ORPHA:2729
Rat-Bite Fever
Fever, Pancreatitis, Parotitis, Weight loss ORPHA:31205
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis OMIM:300712
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
Melnick-Needles Syndrome
Failure to thrive, Ureteral stenosis, Hydronephrosis OMIM:309350
Adrenomyeloneuropathy
Urinary incontinence, Bowel incontinence, Urinary urgency, Urinary retention, Urinary bladder sph... ORPHA:139399
Chime Syndrome
Hydronephrosis, Corneal opacity, Abnormality of the kidney ORPHA:3474
Simple Cryoglobulinemia
Viral hepatitis, Weight loss, Unexplained fevers ORPHA:91139
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Low-grade fever, Weight loss, Hepatosplenomegaly, Enthesitis ORPHA:85408
Machado-Joseph Disease
Urinary bladder sphincter dysfunction, Dysphagia OMIM:109150
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Slender build, Cachexia, Dysphagia OMIM:603041
Juvenile Dermatomyositis
Fever, Weight loss, Dysphagia ORPHA:93672
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Abnormal pupil morphology, Microcornea, Vesicoureteral reflux, Webbed penis... ORPHA:261552
Herpes Simplex Virus Encephalitis
Addictive alcohol use, Cerebral edema ORPHA:1930
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Cataract, Hypospadias, Abnormality of the kidney, Polyhydramn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Cataract, Hypospadias, Abnormality of the kidney, Polyhydramn... ORPHA:353277
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney ORPHA:459061
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microcornea, Nephrotic syndrome, Astigmatism, Constipation, Abnormal anterior chamber morphology,... OMIM:601776
Aicardi-Goutieres Syndrome 7
Fever, Hepatomegaly, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Hepatic steatosis OMIM:615846
Urachal Cyst
Dysuria, Pyuria, Peritonitis, Urachus fistula, Hematuria ORPHA:488
Rubinstein-Taybi Syndrome 1
Cataract, Small for gestational age, Hypospadias, Polyhydramnios, Truncal obesity, Gastroesophage... OMIM:180849
Perineural Cyst
Recurrent urinary tract infections, Urinary bladder sphincter dysfunction, Urinary incontinence, ... ORPHA:65250
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Corneal opacity, Lens subluxation ORPHA:85167
Pancreatoblastoma
Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Robinow Syndrome
Multicystic kidney dysplasia, Small for gestational age, Webbed penis, Micropenis, Hydronephrosis ORPHA:97360
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Corneal scarring, Enamel hypoplasia, Failure to thrive OMIM:610965
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Micropenis, Hypospadias, Hydronephrosis ORPHA:163979
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Urinary bladder sphincter dysfunction, Dysphagia ORPHA:64753
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Weight loss, Steatorrhea ORPHA:309031
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss ORPHA:90362
Staphylococcal Necrotizing Pneumonia
Pleural effusion, Addictive alcohol use, Pleural empyema ORPHA:36238
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Abnormal circulating thyroid ... OMIM:619991
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Upper eyelid edema, Astigmatism, Conjunctivitis, Gastroesopha... OMIM:616268
Brucellosis
Fever, Hepatomegaly, Liver abscess, Small for gestational age, Anorexia, Hypersplenism, Orchitis,... ORPHA:1304
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... ORPHA:881
Pyomyositis
Fever, Weight loss ORPHA:764
Spinocerebellar Ataxia 1
Urinary bladder sphincter dysfunction, Dysphagia OMIM:164400
African Trypanosomiasis
Hepatomegaly, Aggressive behavior, Abnormality of the endocrine system, Splenomegaly, Jaundice, A... ORPHA:3385
Autosomal Dominant Progressive External Ophthalmoplegia
Gastroparesis, Respiratory insufficiency, Constipation, Gastroesophageal reflux, Dysphagia, Failu... ORPHA:254892
Campomelic Dysplasia
Failure to thrive, Hypospadias, Hydronephrosis, Polyhydramnios OMIM:114290
Isolated Osteopoikilosis
Addictive alcohol use ORPHA:166119
Hereditary Acrokeratotic Poikiloderma
Abnormal preputium morphology, Abnormality of the urethra, Xerostomia, Keratoconjunctivitis, Opac... ORPHA:2907
Lambert-Eaton Myasthenic Syndrome
Keratoconjunctivitis sicca, Constipation, Xerostomia, Hypohidrosis ORPHA:43393
Mesomelia-Synostoses Syndrome
Hydronephrosis, Polyhydramnios OMIM:600383
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Weight loss, Failure to thrive, Dysphagia ORPHA:1018
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary urgency, Pollakisuria, Urinary incontinence ORPHA:447753
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Xerostomia, Primary adrenal ins... ORPHA:227982
Igg4-Related Dacryoadenitis And Sialadenitis
Fever, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Weight loss, Nodular goiter ORPHA:79078
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Familial Thrombocytosis
Splenomegaly, Weight loss, Hyperhidrosis ORPHA:71493
Spinocerebellar Ataxia Type 10
Urinary urgency ORPHA:98761
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Ankle flexion contracture, Flexion contracture, Elbow flexion... ORPHA:2020
Digeorge Syndrome
Renal insufficiency, Unilateral renal agenesis, Sclerocornea, Obesity, Hydronephrosis, Gastroesop... OMIM:188400
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Failure to thrive, Hypospadias, Cataract, Corneal opacity, De... ORPHA:3455
Choreoacanthocytosis
Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Agg... ORPHA:2388
Witteveen-Kolk Syndrome
Cataract, Small for gestational age, Hypospadias, Decreased response to growth hormone stimulatio... OMIM:613406
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Iridocyclitis, Xerostomia, Primary adrenal insufficiency, Tubulointerstitial ... ORPHA:227990
Behçet Disease
Fever, Anorexia, Orchitis, Splenomegaly, Weight loss, Pancreatitis ORPHA:117
Wolf-Hirschhorn Syndrome
Rieger anomaly, Small for gestational age, Hypospadias, Ectopia pupillae, Gastroesophageal reflux... OMIM:194190
Johanson-Blizzard Syndrome
Generalized edema, Hypospadias, Small for gestational age, Urethrovaginal fistula, Conjunctival i... OMIM:243800
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Granulomatosis With Polyangiitis
Fever, Weight loss OMIM:608710
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Cataract, Polyhydramnios, Congenital hypothyro... ORPHA:79500
Focal Dermal Hypoplasia
Ureteral duplication, Ectopia lentis, Horseshoe kidney, Chorioretinal coloboma, Aniridia, Iris co... OMIM:305600
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Cataract, Hypospadias, Abnormality of the kidney, Rena... ORPHA:821
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Anhidrosis, Diabetes mellitus, Cachexia, Splen... ORPHA:191
Revesz Syndrome
Megalocornea, Leukocoria OMIM:268130
Camurati-Engelmann Disease
Hepatomegaly, Anorexia, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Hy... ORPHA:1328
Peters-Plus Syndrome
Ureteral duplication, Cataract, Hypospadias, Polyhydramnios, Peters anomaly, Renal hypoplasia, De... OMIM:261540
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Urinary bladder sphincter dysfunction, Bowel incontinence, Dysphagia ORPHA:93256
Parkinson Disease 1, Autosomal Dominant
Urinary urgency, Dysphagia OMIM:168601
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Cataract, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydrops feta... ORPHA:93271
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Dysphagia OMIM:607459
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Abnormal chorioretinal morphology, Horseshoe... ORPHA:3310
Schwartz-Jampel Syndrome
Hip contracture, Inguinal hernia, Shoulder flexion contracture, Cachexia, Malignant hyperthermia,... ORPHA:800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Functional abnormality of the bladder, Enterocolitis, Bronchiectasis, Renovascular hype... ORPHA:391487
Reactive Arthritis
Fever, Weight loss, Enthesitis ORPHA:29207
Spastic Ataxia, Charlevoix-Saguenay Type
Urinary urgency OMIM:270550
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Cataract, Bow... ORPHA:261537
Charge Syndrome
Hypoparathyroidism, Cataract, Renal agenesis, Decreased response to growth hormone stimulation te... OMIM:214800
Mowat-Wilson Syndrome
Urinary incontinence, Vomiting, Vesicoureteral reflux, Webbed penis, Micropenis, Pelvic kidney, I... ORPHA:2152
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Anorexia, Weight loss ORPHA:79430
Postinfectious Vasculitis
Fever, Viral hepatitis, Anorexia, Orchitis, Weight loss ORPHA:48435
Chronic Graft Versus Host Disease
Phimosis, Urinary bladder inflammation, Diarrhea, Xerostomia, Weight loss, Hematuria, Keratoconju... ORPHA:99921
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Splenomegaly, Hepatosplenomegaly, Knee flexion contracture, Wei... ORPHA:576
Mowat-Wilson Syndrome
Cataract, Hypospadias, Abnormality of the kidney, Microcornea, Ectopia pupillae, Vomiting, Consti... OMIM:235730
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Failure to thrive, Hydronephrosis ORPHA:83617
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Edema, Polyhydramnios, Dilatation of the rena... OMIM:619534
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Dysuria, Symblepharon, Oral-pharyngeal dysphagia, Ke... ORPHA:95455
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... OMIM:136140
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Enuresis, Failure to thrive, Constipation, Obesity ORPHA:369950
Wolf-Hirschhorn Syndrome
Abnormality of the gallbladder, Abdominal situs inversus ORPHA:280
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Fever, Recurrent fever, Weight loss OMIM:301074
Friedreich Ataxia
Urinary bladder sphincter dysfunction, Dysphagia ORPHA:95
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Astigmatism, Hydronephrosis OMIM:135900
Sarcoidosis, Susceptibility To, 1
Fever, Hepatomegaly, Anorexia, Splenomegaly, Weight loss OMIM:181000
Blau Syndrome
Clear cell renal cell carcinoma, Cataract, Keratitis, Iridocyclitis, Xerostomia, Stage 5 chronic ... ORPHA:90340
Riddle Syndrome
Recurrent fever, Weight loss ORPHA:420741
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Facial edema, Periorbital edema, Xerostomia, Pros... ORPHA:449432
Castleman Disease
Jaundice, Weight loss ORPHA:160
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... OMIM:175780
Aplasia Of Lacrimal And Salivary Glands
Xerostomia OMIM:180920
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lisch nodules, Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Kikuchi-Fujimoto Disease
Hepatomegaly, Anorexia, Splenomegaly, Low-grade fever, Weight loss ORPHA:50918
Multiple System Atrophy 1, Susceptibility To
Urinary urgency, Urinary incontinence OMIM:146500
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Cataract, Abnormal circulating thyroid hormone concentration, Astigmatism, Hydro... ORPHA:480880
Retinoblastoma
Hypopyon, Heterochromia iridis, Leukocoria, Uveitis ORPHA:790
Kabuki Syndrome 1
Crossed fused renal ectopia, Micropenis, Congenital hypothyroidism, Ureteropelvic junction obstru... OMIM:147920
Oculopharyngodistal Myopathy 1
Weight loss, Dysphagia OMIM:164310
Pulmonary Alveolar Microlithiasis
Fever, Hepatomegaly, Weight loss ORPHA:60025
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Fanconi Anemia
Weight loss, Abnormality of the liver, Hypogonadism, Umbilical hernia, Abnormality of the hypotha... ORPHA:84
Dermatomyositis
Fever, Weight loss, Chondrocalcinosis, Cellulitis ORPHA:221
Genitopatellar Syndrome
Multicystic kidney dysplasia, Polyhydramnios, Dysphagia, Micropenis, Hypothyroidism, Hydronephrosis OMIM:606170
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Polyhydramnios, Renal cyst, Duplication of renal pelvis, Pancreatic islet-cell hyper... OMIM:312870
Acute Transverse Myelitis
Gastroparesis, Urinary incontinence, Paralytic ileus, Constipation, Urinary retention, Urinary bl... ORPHA:139417
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis, Polyhydramnios OMIM:236680
Sponastrime Dysplasia
Cataract, Small for gestational age, Hypospadias, Microcoria, Hypothyroidism, Congenital aphakia ORPHA:93357
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypospadias, Abnormal pupil morphology, Cystocele, Renovascular hypertension, Bladde... ORPHA:286
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Porphyria Cutanea Tarda
Addictive alcohol use, Corneal scarring ORPHA:101330
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Hepatic fibrosis, Abnormal... ORPHA:2072
Multiple Myeloma
Splenomegaly, Weight loss ORPHA:29073
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Splenomegaly, Hepatitis, Weight loss, Recurrent fever OMIM:619381
Seckel Syndrome
Abnormal dental enamel morphology, Cachexia ORPHA:808
Pmm2-Cdg
Fever, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadism, Elevated circul... ORPHA:79318
Viss Syndrome
Chronic gastritis, Polyhydramnios, Chronic diarrhea, Chronic constipation, Gastroesophageal reflu... OMIM:619472
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Constipation, Hydronephrosis OMIM:620330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Gastrointest... ORPHA:79408
Otopalatodigital Syndrome, Type Ii
Cataract, Hypospadias, Hydronephrosis OMIM:304120
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Tubulointerstitial Nephritis And Uveitis Syndrome
Fever, Chorioretinal scar, Anorexia, Weight loss ORPHA:91500
Isolated Posterior Meningocele
Enuresis, Bowel incontinence ORPHA:268810
Retinoblastoma
Leukocoria OMIM:180200
Juvenile Polyposis Of Infancy
Cachexia, Subcutaneous lipoma ORPHA:79076
Nijmegen Breakage Syndrome
Cachexia, Attention deficit hyperactivity disorder ORPHA:647
Marfan Syndrome
Cachexia, Inguinal hernia, Slender build, Attention deficit hyperactivity disorder ORPHA:558
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Apnea, Unilateral renal agenesis, Asthma, Urinary urgency, Chronic... OMIM:619503
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Neoplasm of the thymus, Splenome... ORPHA:744
Lacrimoauriculodentodigital Syndrome 1
Renal agenesis, Coronal hypospadias, Xerostomia, Conjunctivitis, Recurrent corneal erosions, Neph... OMIM:149730
Stickler Syndrome
Slender build, Abnormal dental enamel morphology, Cachexia ORPHA:828
Goodpasture Syndrome
Fever, Weight loss OMIM:233450
Tropical Endomyocardial Fibrosis
Splenomegaly, Hepatomegaly, Fever, Cachexia 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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter