Gene Summary

Name:
nitric oxide synthase 3, endothelial cell
Synonyms:
eNOS,  ecNOS,  Nos-3,  2310065A03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating calcium level Nos3em1(IMPC)Mbp HOM Early adult 6.93×10-08
abnormal lymph node morphology Nos3em1(IMPC)Mbp HOM Early adult 0.00
increased basophil cell number Nos3em1(IMPC)Mbp HOM Early adult 5.76×10-05
small kidney Nos3em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Nos3em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Nos3em1(IMPC)Mbp HOM Early adult 0.00
abnormal epididymis morphology Nos3em1(IMPC)Mbp HOM Early adult 0.00
increased heart weight Nos3em1(IMPC)Mbp HOM Early adult 9.53×10-07
enlarged lymph nodes Nos3em1(IMPC)Mbp HOM Early adult 0.00
increased blood urea nitrogen level Nos3em1(IMPC)Mbp HOM Early adult 1.25×10-05
decreased circulating phosphate level Nos3em1(IMPC)Mbp HOM Early adult 7.28×10-07
decreased circulating serum albumin level Nos3em1(IMPC)Mbp HOM Early adult 2.67×10-05
enlarged spleen Nos3em1(IMPC)Mbp HOM Early adult 0.00
decreased fasting circulating glucose level Nos3em1(IMPC)Mbp HOM Early adult 1.71×10-05
increased neutrophil cell number Nos3em1(IMPC)Mbp HOM Early adult 2.17×10-07
increased circulating alkaline phosphatase level Nos3em1(IMPC)Mbp HOM Early adult 9.49×10-05
enlarged epididymis Nos3em1(IMPC)Mbp HOM Early adult 0.00
increased eosinophil cell number Nos3em1(IMPC)Mbp HOM   Early adult 6.02×10-07

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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.

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Human diseases caused by Nos3 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 Nos3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated diastolic blood pressure, Elevated systolic blood pressure OMIM:145500
Preeclampsia/Eclampsia 1
Thrombocytopenia, Hypertension OMIM:189800
Alzheimer Disease
Dementia OMIM:104300
Stroke, Ischemic
OMIM:601367

The table below shows human diseases predicted to be associated to Nos3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Hypertension, Essential
Elevated mean arterial pressure, Elevated diastolic blood pressure, Elevated systolic blood pressure OMIM:145500
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia OMIM:609968
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Glucose intolerance, Impaired glucose tolerance, Hypertension, Sudden cardi... OMIM:610947
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Lipo... ORPHA:79085
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Uridine-Cytidineuria
Elevated uridine in urine, Elevated urinary cytidine OMIM:618477
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Emotional lability, Anxiety, Cognitive impai... ORPHA:280397
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypercholesterolemia, Hypertension OMIM:608320
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Increased intraabdominal fat, Insulin resistance, Hepatic steatosis, Incr... ORPHA:435660
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang... OMIM:616818
Oocyte Maturation Defect 3
Infertility OMIM:617712
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 1
Infertility OMIM:615774
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... OMIM:613237
Nail-Patella-Like Renal Disease
Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... OMIM:603965
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria OMIM:607832
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, He... ORPHA:435651
Atherosclerosis Susceptibility
Hypertriglyceridemia, Myocardial infarction, Decreased HDL cholesterol concentration OMIM:108725
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus OMIM:167755
Insulinomatosis And Diabetes Mellitus
Hyperinsulinemic hypoglycemia, Glucose intolerance, Impaired glucose tolerance, Multiple pancreat... OMIM:147630
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension ORPHA:3188
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:613944
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Insulin resistance, Hypertension, Myocardial infarction, Hypertriglyceridem... OMIM:615703
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Hypoglycemia, Fasting ... ORPHA:263458
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephrit... OMIM:161900
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Hypertension, Glomerulopathy, Microscopic hematuria, Stage 5... OMIM:137950
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Nephrotic Syndrome, Type 16
Proteinuria, Hematuria, Nephrotic syndrome OMIM:617783
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Multiple Symmetric Lipomatosis
Hepatomegaly, Abnormal adipose tissue morphology, Multiple lipomas, Insulin resistance ORPHA:2398
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hypertension, Hepatomegaly,... ORPHA:79084
Hyperinsulinism Due To Glucokinase Deficiency
Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Recurrent hypoglycemia, Type II diabetes... ORPHA:79299
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c... OMIM:601894
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Focal pancreatic islet hyperplasia, Hy... ORPHA:276575
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Invasive Mole
Menometrorrhagia ORPHA:99925
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Insulin resistance, Hepatic steatosis, Lipodystrophy, Hepatom... OMIM:612526
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Increased circ... OMIM:610600
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... ORPHA:324575
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hype... ORPHA:276556
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymph... ORPHA:100025
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Palpitations, Fasting hypoglycemia, Maternal diabetes, Hyperinsulinemic hy... ORPHA:276580
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Increased circulating renin level, Decreased circulating aldosterone l... OMIM:203400
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Decreased body weight, Pulmonic stenosi... OMIM:616201
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyponatremia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ci... OMIM:177735
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Hypertension, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... OMIM:103900
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Lipodystrophy, Abnormal circulating lipid concentration, A... OMIM:615980
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Hypertension OMIM:613877
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Increased adipose tissue, Type II diabetes ... ORPHA:71529
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating renin level, Hypokalemia, Small for gestational age, Failure ... OMIM:218030
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma, Hypertension OMIM:618464
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Lipodystrophy, Hypertension, Insulin-resistant diabetes... OMIM:608600
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Endometriosis, Susceptibility To, 1
Decreased fertility, Endometriosis, Dysmenorrhea OMIM:131200
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Adenomyosis
Dysmenorrhea OMIM:600458
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Lipoatrophy, Hypertension, Hypertriglyceri... ORPHA:280356
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly OMIM:602079
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Short foot, Brac... OMIM:611263
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri... OMIM:161950
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Lack of facial subcutaneous fat, Glucose intolerance, Orthostatic hypotensi... OMIM:606721
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Increased facial adipose tissue, Insulin resistance, Increased adipose ti... ORPHA:280365
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Galloway-Mowat Syndrome 7
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Ventr... OMIM:618348
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Nephrotic Syndrome, Type 11
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Ventr... OMIM:616730
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Hhhh Syndrome
Hemiatrophy OMIM:306960
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 ORPHA:140941
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Insulin resistance, Nonketotic hypoglycemia,... ORPHA:411593
Wolfram-Like Syndrome, Autosomal Dominant
Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance OMIM:614296
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Diarrhea, R... OMIM:266600
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Abdominal pain, Weight loss, Diarrhea OMIM:191390
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Tubulointerstitial fibrosis, Recurrent uppe... OMIM:263000
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Diabetes ... OMIM:610717
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Overweight, Pericardial effusion, Small for gestational age, Patent foramen ovale, ... ORPHA:26793
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Hypertension, Proteinuria ORPHA:2820
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypoglycemia, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceride... OMIM:232700
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Respiratory tract infection, Hypercholesterolemia, Acute kidney injury, Focal segmen... ORPHA:567548
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese... OMIM:209950
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology DECIPHER:16
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Postural hypotension with compensatory tachycardia, X... ORPHA:85443
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Dementia, Apathy, Frontotemporal dementia, Bradykinesia, Motor deterioration, Falls, Anx... ORPHA:412066
Mandibuloacral Dysplasia
Hypercholesterolemia, Increased intraabdominal fat, Hyperinsulinemia, Glucose intolerance, Insuli... ORPHA:2457
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Heart block, Cardiomegaly, Elevated circulating creatine kinase concentration, R... ORPHA:228308
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Cam... ORPHA:363444
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Hyperprolactinemia
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, ... ORPHA:49041
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Heart-Hand Syndrome, Slovenian Type
Aplasia of the middle phalanx of the hand, Clinodactyly, Syndactyly, Dilated cardiomyopathy, Brac... OMIM:610140
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Hypertension, Myocardial ... ORPHA:54370
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Chromosome 2Q35 Duplication Syndrome
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hyponatremia, Weight loss, Failure to thrive in infancy, Increased circulating renin ... ORPHA:171876
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Hyperinsulinemia, Orthostatic hypotension, Insulin resistance, Hypoglycemia, Retrograde ... ORPHA:230
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Abnormal circulating lipid concentration, Hypertension, Congestive heart failure, Typ... ORPHA:225
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Hypertension, Respiratory insufficiency OMIM:605711
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Oligomeganephronia
Decreased numbers of nephrons, Secundum atrial septal defect, Elevated circulating creatinine con... ORPHA:2260
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hyperechogenic kidneys, Vent... OMIM:618719
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Diamond-Blackfan Anemia 7
Osteoporosis, Esophagitis, Polyhydramnios, Horseshoe kidney, Ventricular septal defect, Secundum ... OMIM:612562
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Arrhythmia, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubu... ORPHA:157
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Progressive neurologic deterioration, Abnormality of the hepatic vasculature, Glomerular sclerosi... ORPHA:247691
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Decreased plasma carnitine, Hyperammonemia, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia OMIM:306000
Fibronectin Glomerulopathy
Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce... ORPHA:84090
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypothyroidism, Umbilical hernia, Hypoin... ORPHA:99886
Denys-Drash Syndrome
Nephropathy, Hypertension, Nephroblastoma, Nephrotic syndrome, Proteinuria ORPHA:220
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Cardio... ORPHA:563
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Arrhythmia, Increased L... OMIM:616516
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Secundum atrial septal defect, Hypo... ORPHA:2257
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Orthostatic Hypotension 1
Retrograde ejaculation, Neonatal hypoglycemia, Orthostatic hypotension OMIM:223360
Acute Peripheral Arterial Occlusion
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... ORPHA:90064
Bardet-Biedl Syndrome 16
Abnormality of the kidney, Renal agenesis, Respiratory distress, Bronchiolitis, Recurrent otitis ... OMIM:615993
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Palmar telangiectasia, Plantar telangiectasia OMIM:175850
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine, Elevated systolic bl... OMIM:300539
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy OMIM:618189
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the t... OMIM:603554
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Central Retinal Vein Occlusion
Pigmentary retinopathy, Papilledema, Cystoid macular edema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Hypophosphatemic ri... OMIM:618913
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... OMIM:305390
Primary Erythromelalgia
Vasculitis, Hypothermia, Recurrent respiratory infections ORPHA:90026
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anemia, Hep... OMIM:607115
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Lipodystrophy, Hyperuricemia, Insulin-resistant diabetes mel... OMIM:604367
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Atrial flutter, Glomerular sclerosis, Elevat... ORPHA:439232
Mucopolysaccharidosis-Plus Syndrome
Patent ductus arteriosus, Hypoalbuminemia, Wide nose, Nephritis, Increased circulating IgM level,... OMIM:617303
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Nephrotic Syndrome, Type 14
Cryptorchidism, Focal segmental glomerulosclerosis, Hypothyroidism, Adrenal insufficiency, Hypert... OMIM:617575
Lessel-Kubisch Syndrome
Premature graying of hair, Renal hypoplasia, Hypertension, Short stature, Renal insufficiency, Hy... OMIM:618681
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Ethylene Glycol Poisoning
Hypocalcemia, Hematuria, Pulmonary edema, Shock, Renal insufficiency, Decreased urine output, Cya... ORPHA:31826
Preeclampsia/Eclampsia 1
Thrombocytopenia, Hypertension OMIM:189800
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Severe Generalized Junctional Epidermolysis Bullosa
Hydroureter, Recurrent urinary tract infections, Pneumonia, Duplicated collecting system, Abnorma... ORPHA:79404
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Atelectasis, Hypertension, Recurrent pneumonia OMIM:268500
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Cryptorchidism, Joint laxity, Ventricular septal defect, Abnormal heart morp... ORPHA:500159
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Reduced intraabdominal adipose tissue, Hepatic s... ORPHA:363400
Systemic Sclerosis
Pericarditis, Acute kidney injury, Joint swelling, Chronic kidney disease, Myocarditis, Pulmonary... ORPHA:90291
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Obesity, Cardiog... ORPHA:66529
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Mental deterioration, Attention defic... OMIM:619191
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Amenorrhea-Galactorrhea Syndrome
Secondary amenorrhea, Pituitary adenoma OMIM:104600
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Joint hypermobility, Cryptorchidism, Bulbous nose, Abnormal heart morphology, Renal hypoplasia, R... OMIM:618494
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Anemia, Hype... OMIM:603278
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypoa... ORPHA:507
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Increased circulating renin leve... ORPHA:427
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... OMIM:265450
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Bone cyst, Clitoral hypertrophy, Cirrhosis, Macroglossia, Insulin resistanc... ORPHA:528
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Vitreoretinopathy, Ret... OMIM:193235
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypothyroidism, Growth delay, Glomerular sclerosis, Renal tubular atrophy, Neona... OMIM:256300
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Cerebral ischemia, Autoimmune thrombocytopenia ORPHA:3325
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Hyperten... OMIM:177200
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Patent ductus arteriosus, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:616276
Nathalie Syndrome
Arrhythmia ORPHA:2663
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Unilateral renal agenesis, Death in infancy, Patent ductus arteriosus, ... OMIM:618845
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Insulin resistance, Hypoglycemia, Truncal obesity, Type II diabetes mellitu... ORPHA:181393
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Heart ... ORPHA:422
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concent... OMIM:232400
Atrial Fibrillation, Familial, 4
Palpitations, Premature atrial contractions, Paroxysmal atrial fibrillation, Atrial fibrillation,... OMIM:611493
Coproporphyria, Hereditary
Respiratory paralysis, Tachycardia, Hypertension, Splenomegaly OMIM:121300
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Micrognathia, Bowing of th... OMIM:249710
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Rhizomelia, Patent ductus arteriosus, Chronic kidney disease, Hypoplastic left ... OMIM:617661
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase concent... OMIM:619048
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmona... OMIM:178500
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Alport Syndrome
Hematuria, Cough, IgA deposition in the glomerulus, Renal insufficiency, Clitoral hypertrophy, St... ORPHA:63
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip bone morphology ORPHA:294975
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, N... ORPHA:95717
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Insulin resistance, Hepatic steatosis, Lipodystrophy, Flexion cont... OMIM:615381
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Dorsocervical fat pad OMIM:616033
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia, Myocardial eosinophilic infiltration OMIM:131400
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Hadziselimovic Syndrome
Prominent nasal bridge, Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect,... OMIM:612946
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Asherman Syndrome
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... ORPHA:137686
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Oligohydramnios, Elevated circulating creatinine concentration, Flexion con... OMIM:616733
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Respiratory insufficiency due to muscle weakness, Third degree atriov... OMIM:601419
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Hematuria, Acute kidney injury, Pericarditis, Pleuritis, Inters... ORPHA:449395
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea OMIM:212840
Emanuel Syndrome
Infertility, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Oligohydramnios, Ventricul... ORPHA:96170
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Abnormal heart morphology, Stage 5 chronic kidney disease, Hypertrophic cardiomy... OMIM:618250
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Depression, Ataxia, Anxiety, Inappropriate behavior, Cognitive impairment, Memory impai... ORPHA:401901
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Epiphyseal stippling, Adrenal hypoplasia, Albuminuria, Ventricular septal defect,... OMIM:214100
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h... ORPHA:231625
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Edema, Hypoalbuminemia, Nephrotic synd... OMIM:615244
Variegate Porphyria
Tachycardia OMIM:176200
Monosomy 18Q
Joint hypermobility, Bulbous nose, Secundum atrial septal defect, Growth delay, Hypothyroidism, P... ORPHA:1600
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Ventricular tachyca... OMIM:600649
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Acquired Generalized Lipodystrophy
Cirrhosis, Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Panniculitis, Abnormal cardio... ORPHA:79086
Emanuel Syndrome
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Renal hypopl... OMIM:609029
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Long-Thumb Brachydactyly Syndrome
Arrhythmia OMIM:112430
Primary Lipodystrophy
Cirrhosis, Insulin resistance, Angina pectoris, Hepatic steatosis, Lipodystrophy, Lipoatrophy, Hy... ORPHA:90970
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Creutzfeldt-Jakob Disease
Gait ataxia, Dementia, Depression, Apathy, Irritability, Anxiety, Memory impairment OMIM:123400
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Simplified gyral pattern, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Hypertension OMIM:613355
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Maternal diabetes, Respiratory distress, Paroxysmal suprav... ORPHA:45452
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Cough, Dyspnea, Decreased DLCO OMIM:234810
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Hypogonadism, Azoospermia, Primary amenorrhea OMIM:229070
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Thyroiditis, Hyperuricemia, Delayed puberty, Increased susceptibility to fr... ORPHA:79259
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia, Cystinuria, Hypogonadism, Nephrolithiasis ORPHA:163693
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Laryngeal cleft, Vaginal fistula, Short stature, Bicuspid aortic valve OMIM:619318
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypophosphatemic rickets, Congestive heart failure, Hypertension OMIM:614473
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Ja... OMIM:603552
Myotonic Dystrophy 2
Palpitations, Oligospermia, Tachycardia, Insulin insensitivity, Decreased circulating total IgM, ... OMIM:602668
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Takayasu Arteritis
Hypertensive crisis, Hypertension, Myocardial infarction, Cerebral ischemia, Anemia, Abnormal pat... ORPHA:3287
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, ... ORPHA:276608
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Edema, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephr... OMIM:610725
Kleefstra Syndrome
Cryptorchidism, Vesicoureteral reflux, Pulmonary artery stenosis, Renal insufficiency, Micropenis... ORPHA:261494
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatom... OMIM:613313
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Insulin resistance, Hepatic steatosis, Lipoatrophy, Hyperuricemia, ... ORPHA:79083
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Arrhythmia, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short ... ORPHA:1350
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight, Aortic regurgitation, Renovascular hypertension, Type II diabet... ORPHA:401923
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Coenzyme Q10 Deficiency, Primary, 1
Hypergonadotropic hypogonadism, Glomerular sclerosis, Elevated circulating creatine kinase concen... OMIM:607426
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Microvesicular hepatic steatosis, Hypoglycemia, Cholestasis, Jaundice, Hypoalbuminemia... OMIM:617156
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Metaphyseal dyspla... OMIM:250460
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Anasarca, Facial edema, Pulmonary embolism, Macroscopic hematuria, Chronic kidn... ORPHA:567546
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension, Hypokalemia ORPHA:526
Epilepsy, Nocturnal Frontal Lobe, 5
Cognitive impairment, Personality disorder, Aggressive behavior, Depression OMIM:615005
Liddle Syndrome 3
Hypokalemia, Hypertension OMIM:618126
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Bradycardia, Neutropenia OMIM:617248
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, Hypothyroidism, ST segment depression, Hypertension, Hypop... ORPHA:90065
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Hypothyroidism, Bronchitis, Pneumonia, Cardiomegaly, Pro... OMIM:601005
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Edema, Hypoalbuminemia, Nephroti... OMIM:614196
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Hepatomegaly, Delayed puberty, Failure to thrive, Hyperlipidemia, Hypertrophic card... ORPHA:369
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency,... ORPHA:71526
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hypoketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Elevated circulating creatine k... OMIM:255120
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Verheij Syndrome
Short nose, Renal hypoplasia, Growth delay, Wide nasal bridge, Vertebral fusion, Renal cyst, Shor... OMIM:615583
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Neonatal hypoglycemia, Hypotension, Ventricular extrasystoles, Hypoglyce... OMIM:212138
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Small for gestational age, Multiple prenatal fractures, Cardiomegaly,... OMIM:616897
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria OMIM:614034
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Respiratory insufficiency, Neona... OMIM:228940
Pulmonary Hypertension, Primary, Autosomal Recessive
Right ventricular failure, Exertional dyspnea, Angina pectoris, Pulmonary arterial hypertension, ... OMIM:265400
Dent Disease
Hematuria, Renal hypophosphatemia, Hypercalciuria, Chronic kidney disease, Thin bony cortex, Dela... ORPHA:1652
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Primary Unilateral Adrenal Hyperplasia
Palpitations, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, Hyp... ORPHA:231580
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Diabetes mellitus, Granuloma, Telangiectasia of the skin ORPHA:542592
Glycogen Storage Disease Iv
Polyhydramnios, Arthrogryposis multiplex congenita, Hydrops fetalis, Tubulointerstitial fibrosis,... OMIM:232500