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Gene: Slc39a8 MGI:1914797

Gene Summary

Name:

solute carrier family 39 (metal ion transporter), member 8

Synonyms:

ZIP8, BIGM103, 4933419D20Rik

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating triglyceride level	Slc39a8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.38×10^-05
preweaning lethality, complete penetrance	Slc39a8^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal retina morphology	Slc39a8^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.10×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Cartilage tissue	Wholemount images	heterozygote	50% (1 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	50% (1 of 2)
Lung	Wholemount images	heterozygote	Ambiguous
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Stomach	Wholemount images	heterozygote	0.0% (0 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Trachea	Wholemount images	heterozygote	50% (1 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (3 of 3)
Ear	N/A	heterozygote	Not available
Ear	N/A	homozygote	33.33% (1 of 3)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (3 of 3)
Eye	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	homozygote	0.0% (0 of 3)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	33.33% (1 of 3)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (3 of 3)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	Not available
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	33.33% (1 of 3)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (3 of 3)
Heart	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	homozygote	33.33% (1 of 3)
Hindbrain	N/A	heterozygote	50% (1 of 2)
Hindbrain	N/A	homozygote	0.0% (0 of 3)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	Not available
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	0.0% (0 of 3)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	homozygote	0.0% (0 of 3)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	0.0% (0 of 3)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	0.0% (0 of 3)
Midbrain	N/A	heterozygote	50% (1 of 2)
Midbrain	N/A	homozygote	0.0% (0 of 3)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	0.0% (0 of 3)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 3)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	Not available
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	66.67% (2 of 3)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

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

11 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Echo

M-Mode Images

32 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

View images

Adult LacZ

LacZ Images Wholemount

10 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Slc39a8 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.

Human diseases associated with Slc39a8 (2 diseases)
Human diseases predicted to be associated with Slc39a8 (1282 diseases)

The table below shows human diseases associated to Slc39a8 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Slc39A8-Cdg		Elbow flexion contracture, Hypomanganesemia, Abnormal blood zinc concentration, Knee flexion cont...	ORPHA:468699
Congenital Disorder Of Glycosylation, Type Iin			OMIM:616721

The table below shows human diseases predicted to be associated to Slc39a8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Blue Diaper Syndrome	Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul...	ORPHA:94086
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula...	ORPHA:69076
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Decreased serum insulin-like growth factor 1, Insulin resistance, Delayed puberty	ORPHA:140941
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Mody	Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy...	OMIM:606762
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco...	OMIM:618913
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi...	ORPHA:35878
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria	OMIM:618857
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypertension, Hepatic stea...	ORPHA:79084
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperinsul...	ORPHA:263455
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Increased C-peptide level...	ORPHA:276575
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia	ORPHA:2089
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Increa...	ORPHA:276580
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria	OMIM:606528
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Cataract 47	Glycosuria	OMIM:612018
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Hypouricemia, Hypo...	OMIM:616026
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone...	OMIM:618883
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Cortisone Reductase Deficiency 2	Insulin resistance, Premature pubarche	OMIM:614662
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypo...	OMIM:603233
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceride...	ORPHA:2088
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos...	OMIM:203330
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperp...	ORPHA:276608
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Episodic hyperhidros...	ORPHA:276556
Obesity Due To Sim1 Deficiency	Glucose intolerance, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypote...	ORPHA:369873
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi...	OMIM:601198
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital...	ORPHA:2239
Pseudohypoparathyroidism Type 2	Prolonged QT interval, Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hor...	ORPHA:94090
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Hyperlipidemia	ORPHA:329249
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis...	ORPHA:280356
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp...	OMIM:146200
Glucose/Galactose Malabsorption	Abnormal oral glucose tolerance, Glycosuria	OMIM:606824
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Intrahepatic cholestasis, ...	OMIM:227810
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Abnormal response to glucagon stimu...	ORPHA:79644
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hypertension, Hepa...	OMIM:613877
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co...	OMIM:262400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism	OMIM:307500
Essential Fructosuria	Abnormal urine carbohydrate level, Hyperglycemia	ORPHA:2056
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva...	OMIM:617253
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ...	ORPHA:3337
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria, Hepatic steatosis	ORPHA:79087
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem...	ORPHA:2298
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis...	ORPHA:95619
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena...	ORPHA:97362
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314811
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardiac arrest, Elevated circulating creatine ...	OMIM:212138
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cardiomyopathy	OMIM:609016
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren...	OMIM:262700
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabetes insipidus, Conjugated hyper...	OMIM:613404
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia	OMIM:619175
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556037
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem...	OMIM:262190
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Hypoglycemia, Recurrent myoglobinuria, Cerebral hemorrhage, Increased ci...	OMIM:620300
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Renal steatosis	OMIM:261650
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao...	OMIM:615779
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl...	OMIM:615980
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica...	OMIM:231680
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556030
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti...	OMIM:610582
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate...	OMIM:612462
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Abnormal left vent...	ORPHA:36913
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Transient Neonatal Diabetes Mellitus	Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa...	OMIM:264350
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Obesity And Hypopigmentation	Hepatic steatosis, Hyperinsulinemia	OMIM:620195
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Arrhythmia	ORPHA:35
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D...	OMIM:203400
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:79085
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Recurrent urinary tract...	ORPHA:361
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Neonatal Hemochromatosis	Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal...	ORPHA:446
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy...	OMIM:617228
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycem...	OMIM:229600
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E...	OMIM:137920
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67046
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:608600
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulatin...	ORPHA:159
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Combined Oxidative Phosphorylation Deficiency 20	Hyperalaninemia, Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Renal s...	ORPHA:90791
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level...	ORPHA:79445
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Di...	ORPHA:79159
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ...	ORPHA:411629
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona...	OMIM:619326
Galactokinase Deficiency	Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hepatosplenomegaly,...	ORPHA:79237
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Hypoglycemia	OMIM:615158
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos...	OMIM:103580
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia	OMIM:616033
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamin...	ORPHA:230
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia	OMIM:618856
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes m...	ORPHA:79086
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolem...	ORPHA:427
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinas...	ORPHA:94093
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli...	ORPHA:293964
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Niemann-Pick Disease, Type B	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:607616
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged kidney, Elevated circulating gr...	ORPHA:90301
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension, Cirrhosis...	ORPHA:363400
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Nemaline Myopathy 9	Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios	OMIM:615731
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosph...	ORPHA:213
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism	ORPHA:280062
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri...	ORPHA:99879
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Acute Adrenal Insufficiency	Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypoglycemia, Orthostati...	ORPHA:95409
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:177735
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Hypertrophic cardiomyopa...	OMIM:220110
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia	ORPHA:6
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome, Hyper...	OMIM:201910
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v...	OMIM:616501
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Splenomegaly, Insulin-r...	ORPHA:79083
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo...	ORPHA:428
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis, Decreased response to growth hormone stimulation test, Pseudoh...	ORPHA:94089
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, I...	ORPHA:71212
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste...	OMIM:607941
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, ...	ORPHA:199299
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Palpitations, Type II diabetes mellitu...	OMIM:619290
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Necrotizing Enterocolitis	Shock, Hyponatremia, Peritonitis, Bradycardia, Hypotension, Abnormal glucose homeostasis, Hypergl...	ORPHA:391673
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Intracra...	ORPHA:340
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop...	OMIM:300555
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Hyperhidrosis, Prominent U wa...	ORPHA:466677
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis	ORPHA:70578
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated...	ORPHA:435660
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ...	OMIM:614736
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion conce...	ORPHA:173
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla...	OMIM:619386
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Myasthenia Gravis	Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Hepatitis, Abnormal thymus mo...	ORPHA:589
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Congenital Generalized Lipodystrophy	Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Congestive ...	ORPHA:528
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos...	OMIM:617994
Endocardial Fibroelastosis	Hypoplasia of penis, Hypoglycemia, Congestive heart failure, Restrictive cardiomyopathy, Anterior...	ORPHA:2022
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Renal tubular dysfunction, Glucose intolerance, Cirrhosis, Glycosuria, H...	OMIM:616539
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia	OMIM:608898
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, High-output congestive heart failure, Ventricular tachyc...	ORPHA:423
Retinitis Pigmentosa	Hypogonadism, Hypoplasia of penis, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:791
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Pituitary Apoplexy	Hyponatremia, Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circul...	ORPHA:95613
Wilson Disease	Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato...	OMIM:277900
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia...	ORPHA:79319
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar...	ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati...	ORPHA:168558
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dec...	ORPHA:447
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Glucose into...	ORPHA:358
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Torticollis, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Perlman Syndrome	Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Hyperinsulinemia, Nephroblastoma	ORPHA:2849
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ...	ORPHA:134
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resi...	ORPHA:2348
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia	OMIM:614480
Alstrom Syndrome	Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, Hepatomegaly, Decreased respons...	OMIM:203800
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Hypertriglyceridemia, Insulin resist...	OMIM:615381
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia	OMIM:615924
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hyperphosphaturia, Decreased circulating parathyroid hor...	ORPHA:157215
Vitamin D-Dependent Rickets, Type 3	Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia	OMIM:619073
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, ...	ORPHA:31824
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:79444
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Dil...	ORPHA:79230
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Diarrhea 13	Recurrent hypoglycemia, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	OMIM:610717
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Donohue Syndrome	Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet...	OMIM:246200
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Congestive heart fa...	OMIM:619048
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re...	OMIM:619167
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:3085
2P21 Microdeletion Syndrome	Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia	ORPHA:163693
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Myocardial infarction, Spl...	ORPHA:3452
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Elevated transferrin saturation, Congestive heart f...	OMIM:613313
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve...	OMIM:615962
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy...	OMIM:239000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria, Hepatocellular carcinoma, Hyp...	ORPHA:369
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:79443
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp...	ORPHA:90794
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Vasculitis	OMIM:601979
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Glucocorticoid Deficiency 2	Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level	OMIM:607398
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia	OMIM:615026
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat...	OMIM:617872
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Hypotension, Inc...	ORPHA:36238
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	OMIM:151660
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia	OMIM:604484
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia, Congenital hypoparathyr...	ORPHA:2323
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Impaired myocardial contractility, Adrenocortical adenoma, Postprandial hyp...	ORPHA:681
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis...	ORPHA:549
Placental Insufficiency	Insulin resistance	ORPHA:439167
Relapsing Fever	Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Jaundice, Elevated...	ORPHA:91547
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,...	ORPHA:293978
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Decreased serum iron, Dilated cardiomyopathy, Flexion contracture, Decre...	ORPHA:89842
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rickets, Elevated c...	OMIM:612089
Rabson-Mendenhall Syndrome	Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast...	ORPHA:769
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia	OMIM:614741
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Jaundice, D...	ORPHA:20
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congen...	OMIM:101800
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Congestive heart failure, Dilated cardiomyopathy, C...	OMIM:602390
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia	OMIM:616276
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricular tachycardia...	OMIM:263800
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, 3-Methylglutaconic aciduria, Hypoglycemia	ORPHA:67048
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Abnormal circulating creatine k...	ORPHA:521411
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen...	ORPHA:466650
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right v...	ORPHA:97287
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re...	ORPHA:2457
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d...	ORPHA:3092
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper...	OMIM:239200
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Increased...	ORPHA:100080
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Transaldolase Deficiency	Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Abnormal circulating glutamine...	ORPHA:101028
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent...	OMIM:615160
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Pancreatitis, ...	ORPHA:188
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hyperam...	OMIM:618120
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Glycogen Storage Disease Iii	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, C...	OMIM:232400
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypogonadism, Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia	ORPHA:73272
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios	ORPHA:3405
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615947
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating...	ORPHA:453533
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Abnormal cardiac ventricular fun...	ORPHA:2394
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp...	ORPHA:90065
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect	OMIM:615297
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani...	OMIM:266150
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Episodic hyperhidrosis, Jaundice, Chron...	ORPHA:469
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:603552
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Jaundice, Low p...	OMIM:615751
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitati...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitati...	ORPHA:100082
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,...	OMIM:601678
Atypical Werner Syndrome	Renal neoplasm, Diabetes mellitus, Telangiectasia of the skin, Hypertriglyceridemia, Abnormal cir...	ORPHA:79474
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Hyperlipoproteinemia, Type I	Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester...	OMIM:238600
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, D...	ORPHA:280365
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev...	OMIM:613327
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Stage 5 chronic kidney dis...	OMIM:608612
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyp...	OMIM:602579
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic...	ORPHA:289504
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Increased hepatic ...	OMIM:261680
Hydroxykynureninuria	Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension	ORPHA:79155
Monosomy 13Q34	Epistaxis, Hypercalcemia, Insulin resistance, Fetal pyelectasis, Hematochezia, Pulmonic stenosis,...	ORPHA:96168
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:1388
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser...	ORPHA:465508
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Hypertrop...	OMIM:231530
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia	OMIM:177000
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia, Oligohydram...	OMIM:617093
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat...	ORPHA:300373
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo...	OMIM:263400
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Hypoglycemia, Aciduria	OMIM:617950
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypoglycemia, Sudden cardiac death, Renal tubular acidosis, Arrhythmia, Transient h...	ORPHA:156
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Abnormal circulating ca...	OMIM:241530
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu...	OMIM:619355
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia, 2-ethylhydracylic aciduria	OMIM:610006
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema, Sinus bradycardia	OMIM:126320
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t...	ORPHA:90695
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Hematemesis, Cardiogenic shock,...	ORPHA:100075
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:300635
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventric...	OMIM:600649
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell...	OMIM:617575
Infant Botulism	Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension	ORPHA:178478
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect	OMIM:613759
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h...	ORPHA:31826
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia	OMIM:620282
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:613101
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance	OMIM:214150
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam...	OMIM:246450
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoprote...	ORPHA:99828
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona...	ORPHA:860
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Fasting ...	OMIM:613027
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation, Arrhythmia, Cardio...	OMIM:606069
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios	OMIM:263630
Leprechaunism	Hepatomegaly, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyro...	ORPHA:508
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis	OMIM:618624
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Diabetes mellitus, Biliary atresia, Pulmonic stenosis, ...	OMIM:600001
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ...	OMIM:601927
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Methylmaloni...	OMIM:248360
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Jaundice, Hypoglycemia, Hyperammonemia	OMIM:616483
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Cardiomyopa...	OMIM:232500
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia	ORPHA:2158
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Abnormal circulating folli...	ORPHA:93325
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	ORPHA:3449
Perry Syndrome	Hypotension	ORPHA:178509
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect	OMIM:619717
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Hemochromatosis, Type 1	Cardiomegaly, Increased circulating ferritin concentration, Congestive heart failure, Telangiecta...	OMIM:235200
Scrub Typhus	Renal insufficiency, Myocarditis, Splenomegaly, Hyperhidrosis, Hypotension	ORPHA:83317
Chylomicron Retention Disease	Hypertriglyceridemia, Retinopathy, Steatorrhea, Hypocholesterolemia	ORPHA:71
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular dysfunction, E...	OMIM:307800
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca...	ORPHA:90068
Nipah Virus Disease	Hypotension	ORPHA:99825
16P13.11 Microduplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:261243
Slc39A8-Cdg	Elbow flexion contracture, Hypomanganesemia, Abnormal blood zinc concentration, Knee flexion cont...	ORPHA:468699
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Neonatal hypoglycemia, Reduced circulating prolacti...	OMIM:223360
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Decreased serum zinc, Oligohydramnios	ORPHA:541423
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmonic steno...	OMIM:615355
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec...	ORPHA:2126
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia	ORPHA:199276
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,...	ORPHA:99147
Meningococcal Meningitis	Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypotension	ORPHA:33475
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl...	OMIM:210200
Bacterial Toxic-Shock Syndrome	Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ...	ORPHA:36234
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Insulin resistance, Dilated cardiom...	OMIM:616541
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Insu...	ORPHA:902
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney...	OMIM:251000
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Shortened QT inte...	ORPHA:99880
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Citrullinemia, Type Ii, Adult-Onset	Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia	OMIM:603471
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Renal salt wasti...	ORPHA:275761
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Griscelli Syndrome Type 1	Hyperlipidemia, Retinopathy	ORPHA:79476
Mccune-Albright Syndrome	Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious...	ORPHA:562
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Silver-Russell Syndrome	Hypospadias, Precocious puberty, Insulin resistance, Hyperhidrosis, Recurrent hypoglycemia, Abnor...	ORPHA:813
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Ketonuria, Hypoglycemia, Hyperammonemia	OMIM:615453
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st...	OMIM:615710
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl...	OMIM:248370
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:435651
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Shortened QT inte...	ORPHA:143
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Nephrolithiasi...	OMIM:232200
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Elevated hemoglobin A...	OMIM:616113
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Smal...	ORPHA:100078
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries	OMIM:231060
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin...	OMIM:608594
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi...	ORPHA:49827
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar...	OMIM:264700
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Tachycardia, Hypergonadotropic hypogonadism	OMIM:619737
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Hypokalemia, Second degree at...	OMIM:615474
Marbach-Rustad Progeroid Syndrome	Right bundle branch block, Insulin resistance, Pulmonary insufficiency	OMIM:619322
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Hypospadias, Hypotension	ORPHA:439822
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st...	ORPHA:3464
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarboxylic aciduria, Hepatic steatosis	OMIM:201450
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Congenital Enterovirus Infection	Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension	ORPHA:292
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia	OMIM:249270
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ...	OMIM:212093
Marburg Hemorrhagic Fever	Shock, Renal insufficiency, Tachycardia, Hypoglycemia, Pericarditis, Elevated circulating creatin...	ORPHA:99826
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Insulin resistance, Hyperlipidemia, Delayed puberty	ORPHA:90154
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Bardet-Biedl Syndrome 19	Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular...	OMIM:615996
14Q11.2 Microdeletion Syndrome	Ventricular septal defect	ORPHA:261120
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Alexander Disease	Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hypertension, Hypoten...	ORPHA:58
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate...	OMIM:619743
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ...	OMIM:269700
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Hypertension, Second degr...	OMIM:617021
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ...	ORPHA:99827
Pancreatic Agenesis 1	Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff...	OMIM:260370
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, H...	ORPHA:79456
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased serum zinc	OMIM:201100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp...	OMIM:156400
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter	OMIM:210740
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, E...	ORPHA:26793
Short Syndrome	Insulin resistance, Diabetes mellitus	ORPHA:3163
Serotonin Syndrome	Tachycardia, Hyperhidrosis, Hypertension, Hypotension, Acute kidney injury	ORPHA:43116
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, F...	ORPHA:319213
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:616222
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect, Hypomagnesemia	OMIM:619908
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidis...	ORPHA:95496
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, J...	ORPHA:90051
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron	OMIM:603358
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Hepatosplenomegaly, Hypotension	ORPHA:98850
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Hypophosphatemia	ORPHA:2611
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology	ORPHA:254534
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemia	OMIM:229700
Hadziselimovic Syndrome	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect	OMIM:612946
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Beta-Thalassemia	Hypertrophic cardiomyopathy, Abnormality of iron homeostasis	ORPHA:848
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H...	OMIM:131100
Bardet-Biedl Syndrome 9	Renal insufficiency, Hyperglycemia	OMIM:615986
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:619189
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract...	OMIM:613870
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart failure, ...	OMIM:611126
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t...	ORPHA:95494
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect	OMIM:618330
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Hypoglycemia, Proteinuria, Spider hemangioma, Chronic pancreat...	OMIM:232240
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatoce...	ORPHA:90062
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase...	ORPHA:786
Glycogen Storage Disease Ib	Hepatomegaly, Hypoglycemia, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomeg...	OMIM:232220
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine...	OMIM:618839
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar...	ORPHA:289157
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Combined Oxidative Phosphorylation Deficiency 40	Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circula...	OMIM:618835
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ...	OMIM:612561
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia, Hypospadias	OMIM:175700
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Bardet-Biedl Syndrome 1	Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resistance,...	OMIM:209900
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Insulin r...	ORPHA:96182
Werner Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration	OMIM:277700
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Nephrolithiasis, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Hypertyrosinemia, Hypoglycemia, E...	OMIM:276700
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Pollakisuria, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism	ORPHA:93256
Fibrous Dysplasia Of Bone	Hyperthyroidism, Diabetes mellitus, Precocious puberty in females, Elevated circulating growth ho...	ORPHA:249
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Abnormal spleen...	ORPHA:398063
Aromatase Deficiency	Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, He...	ORPHA:91
Hellp Syndrome	Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo...	ORPHA:244242
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h...	ORPHA:5
Aica-Ribosuria Due To Atic Deficiency	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia, Hypoglycemia	OMIM:608688
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
King-Denborough Syndrome	Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate...	OMIM:619542
14Q24.1Q24.3 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology	ORPHA:401935
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:617049
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations,...	ORPHA:100079
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Hyperlipidemia	ORPHA:90153
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con...	OMIM:618775
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Hypoglycemia, Cardiac arrest, Premature thelarche, Elevated circulating creatine kinas...	OMIM:616878
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:1166
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemia, Hyperuricemia, Fasting hypog...	ORPHA:348
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, Mi...	OMIM:617156
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Joint contracture of the hand, Pulmonic stenosis, Camptodactyly, Atria...	OMIM:179613
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid...	OMIM:277440
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:618974
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Adams-Oliver Syndrome 6	Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension	OMIM:616589
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce...	ORPHA:91355
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati...	OMIM:617478
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect, Polyhydramnios	ORPHA:2256
Tyshchenko Syndrome	Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul...	OMIM:620185
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ...	ORPHA:3426
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl...	OMIM:616897
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Decreased plasma total carni...	ORPHA:79408
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,...	OMIM:210210
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol...	ORPHA:284169
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Conjugated hyperbilirubinemia, Oligohydramnios, Dehydration, Atrial se...	OMIM:208085
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Hypercholest...	OMIM:606721
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A...	ORPHA:392
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Hydrops fetalis, I...	ORPHA:766
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentra...	OMIM:251880
Pure Autonomic Failure	Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating ca...	ORPHA:441
Scimitar Syndrome	Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr...	ORPHA:185
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Tenorio Syndrome	Hypoglycemia, Raynaud phenomenon, Enuresis, Syncope, Hypoinsulinemia	OMIM:616260
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Post...	ORPHA:440713
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ...	ORPHA:90790
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Woods Syndrome	Ventricular septal defect	OMIM:615236
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Ventricular septal defect	OMIM:617635
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios	ORPHA:1923
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior...	OMIM:616843
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Familial Chylomicronemia Syndrome	Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Lipemia re...	ORPHA:444490
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa...	OMIM:618494
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid conc...	OMIM:231670
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619313
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect	OMIM:602501
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Lactic...	ORPHA:3008
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis	ORPHA:75563
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia	OMIM:617450
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr...	OMIM:618027
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Pedal edema, Aort...	ORPHA:97214
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Roifman Syndrome	Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Hyperhidrosis	OMIM:608643
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,...	ORPHA:210122
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Hennekam-Beemer Syndrome	Arrhythmia, Telangiectasia of the skin, Hypotension	ORPHA:2135
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension	ORPHA:2912
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Leptospirosis	Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Jaundice...	ORPHA:509
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Hypotension	ORPHA:98849
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect	OMIM:620210
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal...	OMIM:620306
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Ventricular septal defect, Hypoplastic right heart	OMIM:618142
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Prune Belly Syndrome	Ventricular septal defect, Aplasia of the abdominal wall musculature, Atrial septal defect, Tetra...	ORPHA:2970
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology	ORPHA:500159
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Dietary Iron Overload Disease	Increased circulating ferritin concentration, Elevated transferrin saturation, Congestive heart f...	ORPHA:139507
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,...	OMIM:616564
Liver Disease, Severe Congenital	Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Hypocalcemia, Elevated he...	OMIM:619991
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di...	ORPHA:477817
Joubert Syndrome 18	Ventricular septal defect, Camptodactyly	OMIM:614815
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio...	OMIM:603387
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect	OMIM:147800
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect	ORPHA:2345
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucen...	OMIM:618870
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:609069
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Costello Syndrome	Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis...	ORPHA:3071
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo...	OMIM:617022
Bloom Syndrome	Recurrent urinary tract infections, Diabetes mellitus, Insulin resistance, Telangiectasia, Nephro...	ORPHA:125
Transketolase Deficiency	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Patent foramen ovale,...	ORPHA:488618
Kagami-Ogata Syndrome	Ventricular septal defect, Diastasis recti, Polyhydramnios, Flexion contracture, Pulmonic stenosi...	OMIM:608149
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Elbow flexion contracture, Mit...	OMIM:121050
Brachydactyly, Type B1	Joint contracture of the hand, Ventricular septal defect, Camptodactyly	OMIM:113000
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:619802
Transaldolase Deficiency	Ventricular septal defect, Telangiectasia, Atrial septal defect, Patent foramen ovale, Oligohydra...	OMIM:606003
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Ventricular septal defect, Elevated circulating creatine kina...	OMIM:615673
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cardio...	OMIM:605275
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly	OMIM:301039
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:610733
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Hypomimic face	OMIM:608572
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos...	ORPHA:369891
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Congenital Rubella Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:290
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent...	OMIM:618316
3C Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,...	ORPHA:7
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Emanuel Syndrome	Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Join...	OMIM:609029
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Ch...	OMIM:124000
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Flexion contracture, Ventricular septal defect	ORPHA:79243
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:79240
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Polyhydramnios	OMIM:219730
Congenital Disorder Of Glycosylation, Type Iil	Atrial septal defect, Peau d'orange, Ventricular septal defect, Elevated circulating creatine kin...	OMIM:614576
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect	OMIM:615879
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Polyhydramnios, Lymphedema, Hypocalcemia, Ascites, Hypoproteinemia	OMIM:235255
Keutel Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:85202
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Hypothyroidism, Tubulointerstitial fi...	ORPHA:79259
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia	OMIM:619909
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Camptodactyly	OMIM:619980
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Anterior ...	ORPHA:226307
Trisomy 1Q	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:261344
Heterotaxy, Visceral, 1, X-Linked	Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M...	OMIM:306955
22Q11.2 Duplication Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea...	ORPHA:1727
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Increased serum iron, Hypoalbumi...	OMIM:222470
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	ORPHA:329224
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Female hypogonadism, Mitral stenosis, Decreased serum leptin, Angina pector...	ORPHA:740
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,...	ORPHA:99228
Monosomy X	Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,...	ORPHA:881
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Hyperlipidemia, Mitral regurgitation, Atrial sep...	ORPHA:254346
Idiopathic Copper-Associated Cirrhosis	Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration	ORPHA:209919
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul...	OMIM:619657
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis	ORPHA:1054
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Anomalous pul...	ORPHA:3097
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Elevated circulating creatine kinase concentration, Polyhydramnios, Ab...	OMIM:301056
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
Pelger-Huet Anomaly	Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness	OMIM:169400
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia	OMIM:616920
Diabetic Embryopathy	Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricular septal def...	ORPHA:1926
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Neonatal dea...	OMIM:601186
Seckel Syndrome 9	Atrial septal defect, Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:616777
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concentration, Sudde...	OMIM:614921
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Portal hypertension, Hypertrophic cardiomyopathy, ...	ORPHA:309854
Spondylo-Ocular Syndrome	Facial hypotonia, Ventricular septal defect	ORPHA:85194
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:75389
Beck-Fahrner Syndrome	Facial hypotonia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale	OMIM:614961
Trisomy 13	Atrial septal defect, Ventricular septal defect, Hydrops fetalis	ORPHA:3378
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect	OMIM:218350
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P...	OMIM:235510
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98907
Methanol Poisoning	Hyperlipidemia, Abnormal optic nerve morphology	ORPHA:31825
Aceruloplasminemia	Increased circulating ferritin concentration, Torticollis, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Aplasia/Hypoplasia ...	ORPHA:354
Emanuel Syndrome	Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma...	ORPHA:96170
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:617452
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly	OMIM:619123
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Telangiectasia, Atrial septal defect, Tetralogy of Fallot, Patent fora...	OMIM:612582
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart...	ORPHA:457279
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Chédiak-Higashi Syndrome	Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Increased circulating fe...	ORPHA:167
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Ventricular septal defect	OMIM:619769
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect	OMIM:615630
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Hypoglycemia, Hypertriglyceridemia, Hyperg...	OMIM:307030
Syndromic Diarrhea	Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology...	ORPHA:84064
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis, Tricuspid va...	OMIM:609942
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val...	ORPHA:3384
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	ORPHA:171851
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased serum iron, Elevated hepatic iron concentration	OMIM:206100
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo...	ORPHA:99050
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Ogden Syndrome	Cardiogenic shock, Arrhythmia, Ventricular septal defect, Torticollis	ORPHA:276432
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve...	OMIM:265380
Renal Agenesis	Hypertension, Ventricular septal defect, Oligohydramnios	ORPHA:411709
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Pulmonic stenosis, ...	ORPHA:435638
Severe X-Linked Intellectual Disability, Gustavson Type	Contractures of the large joints, Ventricular septal defect	ORPHA:3078
Dominant Beta-Thalassemia	Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomyopathy, Abno...	ORPHA:231226
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:617516
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Limb joint contracture, Ventricular septal defect	ORPHA:505237
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:2519
Aceruloplasminemia	Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc...	ORPHA:48818
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect	ORPHA:452
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect	OMIM:613680
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia	OMIM:617591
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:617395
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R...	ORPHA:289176
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios	OMIM:611812
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	ORPHA:435934
Codas Syndrome	Ventricular septal defect	ORPHA:1458
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Polyhydramnios, Hypocalcemia, Ascites, Hypoproteinemia	ORPHA:1655
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Macular atrophy	OMIM:619418
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:609053
Raine Syndrome	Hydroureter, Hydronephrosis, Hypophosphatemia	OMIM:259775
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve	OMIM:616652
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect, Polyhydramnios, Camptodactyly	OMIM:617360
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri...	ORPHA:1335
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1908
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Fanconi Anemia, Complementation Group N	Ventricular septal defect	OMIM:610832
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Char Syndrome	Ventricular septal defect	ORPHA:46627
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:220500
H Syndrome	Hypertriglyceridemia	ORPHA:168569
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia	ORPHA:158048
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Ventricular septal defect	OMIM:617061
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, High nonceruloplasmin-bound serum copper, Limb hypertonia	ORPHA:457351
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Carpenter Syndrome 1	Ventricular septal defect, Joint contracture of the hand, Transposition of the great arteries, Pu...	OMIM:201000
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa...	OMIM:601808
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Beta-Thalassemia Major	Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomyopathy, Abno...	ORPHA:231214
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent foramen ovale, Oligohydramnios	OMIM:620113
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Cat Eye Syndrome	Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo...	OMIM:115470
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Oligohydramnios	ORPHA:96201
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Part...	OMIM:270100
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect, Polyhydramnios	OMIM:615503
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger	ORPHA:2876
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia	ORPHA:536532
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol...	ORPHA:77293
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect	OMIM:614424
Short Stature-Micrognathia Syndrome	Skeletal muscle hypertrophy, Ventricular septal defect	OMIM:617164
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:613001
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ventricular septal defect, Polyhydramnios	OMIM:243150
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Mgat2-Cdg	Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Reflex asystolic syncope, ...	ORPHA:79329
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial septal defect, Truncu...	ORPHA:2008
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Elbow flexion contracture, Mitr...	OMIM:602782
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Chromosome 9P Deletion Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ...	OMIM:158170
Alagille Syndrome 1	Pigmentary retinopathy, Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia	OMIM:118450
Holt-Oram Syndrome	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,...	OMIM:142900
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:457193
Pmm2-Cdg	Pericarditis, Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone con...	ORPHA:79318
Kapur-Toriello Syndrome	Atrial septal defect, Joint contracture of the hand, Ventricular septal defect, Camptodactyly of ...	OMIM:244300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl...	OMIM:178110
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:145420
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right...	ORPHA:2209
Familial Benign Copper Deficiency	Decreased circulating copper concentration	ORPHA:1551
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect	OMIM:616449
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri...	OMIM:300998
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Heart murmur	ORPHA:166035
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Camptodactyly	OMIM:300963
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula...	OMIM:614294
Alagille Syndrome	Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect	ORPHA:52
Sifrim-Hitz-Weiss Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:617159
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypocalciuria, Hypophosphatemia	ORPHA:89936
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect	ORPHA:52055
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Irida Syndrome	Decreased circulating copper concentration	ORPHA:209981
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis	OMIM:614114
Tetraamelia Syndrome 2	Ventricular septal defect	OMIM:618021
Bohring-Opitz Syndrome	Ventricular septal defect, Polyhydramnios, Flexion contracture, Camptodactyly, Atrial septal defect	OMIM:605039
Short-Rib Thoracic Dysplasia 12	Ventricular septal defect, Polyhydramnios, Edema, Neonatal death, Ascites, Patent foramen ovale	OMIM:269860
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno...	ORPHA:488632
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia	ORPHA:96097
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern...	ORPHA:1692
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Hypocalcemia, Hypophosphatemia, Pulmonary arterial hypertension	ORPHA:667
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Donnai-Barrow Syndrome	Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect	ORPHA:77298
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:309520
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ...	OMIM:309801
Beta-Thalassemia Intermedia	High-output congestive heart failure, Pulmonary arterial hypertension, Abnormality of iron homeos...	ORPHA:231222
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hep...	OMIM:220111
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Conjug...	OMIM:614866
Griscelli Syndrome Type 2	Hyperlipidemia	ORPHA:79477
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly	OMIM:617602
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:612530
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal...	OMIM:607721
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Double outlet right ventricle, Pulmonary arterial hypertension, Mitral...	ORPHA:163956
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br...	OMIM:614653
Sotos Syndrome	Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect	OMIM:117550
Alg9-Cdg	Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P...	ORPHA:79328
Phelan-Mcdermid Syndrome	Ventricular septal defect, Palpebral edema, Lymphedema	OMIM:606232
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death	OMIM:620024
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ...	OMIM:100300
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Dehydration, Macroglossia, Oligohydramnios	ORPHA:96191
Loeys-Dietz Syndrome 5	Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Congeni...	OMIM:615582
Plague	Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Hypotension, Arrhythmia	ORPHA:707
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Macroglossia, Arrhythmia, Tetralogy of Fallot	ORPHA:261494
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia	ORPHA:268249
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atria...	OMIM:619534
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar...	ORPHA:209905
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis	OMIM:277600
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect	OMIM:106260
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Right bundle branch block, Mi...	OMIM:617506
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect	OMIM:123700
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small hand muscles, Pulmonic ...	OMIM:610443
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration	OMIM:619573
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Copper Deficiency, Familial Benign	Decreased circulating copper concentration	OMIM:121270
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:261236
Diamond-Blackfan Anemia 10	Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia	OMIM:613309
3Q29 Microduplication Syndrome	Camptodactyly of toe, Ventricular septal defect	ORPHA:251038
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Car...	ORPHA:99125
Recombinant 8 Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Camptodactyly of finger	ORPHA:96167
Lateral Meningocele Syndrome	Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve	OMIM:130720
Ogden Syndrome	Premature atrial contractions, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventr...	OMIM:300855
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis	OMIM:610759
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	OMIM:600373
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Increased nuchal translucency, Ventricular septal defect	ORPHA:79345
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect	OMIM:300472
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Abnormal circulating creatine kinase concentration	ORPHA:98908
Diaphragmatic Hernia 4, With Cardiovascular Defects	Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Aortopulmonary window, Apla...	OMIM:620025
Velocardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia	OMIM:192430
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve...	OMIM:190685
Zellweger Syndrome	Ventricular septal defect	ORPHA:912
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Congestive heart failure, Hor...	ORPHA:444077
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilirubinemi...	ORPHA:163979
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Aorti...	ORPHA:464311
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect, Oligohydramnios	OMIM:619229
Fanconi Anemia, Complementation Group B	Ventricular septal defect	OMIM:300514
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Mckusick-Kaufman Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart	ORPHA:2473
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis	OMIM:263520
Ulnar-Mammary Syndrome	Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f...	ORPHA:3138
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale	OMIM:618748
Duane-Radial Ray Syndrome	Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep...	OMIM:607323
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Elevated hemoglobin A1c	OMIM:619127
Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect, Hypocalcemia	OMIM:300712
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ...	ORPHA:2461
Chops Syndrome	Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return	OMIM:616368
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect, Polyhydramnios, Macroglossia, Distal arthrogryposis, Increased serum b...	OMIM:618268
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h...	ORPHA:444072
Focal Dermal Hypoplasia	Telangiectasia of the skin, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic ...	ORPHA:2092
C Syndrome	Ventricular septal defect	OMIM:211750
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Paten...	OMIM:616894
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Osteopathia Striata With Cranial Sclerosis	Ventricular septal defect, Facial palsy, Polyhydramnios, Camptodactyly, Atrial septal defect, Joi...	OMIM:300373
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Contracture of ...	ORPHA:464738
Trisomy 18	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Atrial septa...	ORPHA:3380
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Limb hypertonia	OMIM:609460
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect, Camptodactyly	OMIM:272950
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat...	OMIM:608328
Peroxisome Biogenesis Disorder 1A (Zellweger)	Macroglossia, Elevated circulating long chain fatty acid concentration, Ventricular septal defect	OMIM:214100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia...	ORPHA:508498
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect	OMIM:250410
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Congenital Tracheal Stenosis	Ventricular septal defect, Fetal ascites, Polyhydramnios, Hypoplastic left heart, Oligohydramnios	ORPHA:141127
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A...	OMIM:249420
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse	OMIM:617107
Chromosome 14Q11-Q22 Deletion Syndrome	Macroglossia, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Hypocholesterolemia	OMIM:244450
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, T...	ORPHA:261330
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Tendon xanthomatosi...	ORPHA:391665
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228308
Cohen Syndrome	Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Fryns Syndrome	Ventricular septal defect, Polyhydramnios, Aplasia of the left hemidiaphragm, Stillbirth, Chyloth...	OMIM:229850
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Diets-Jongmans Syndrome	Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:618846
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Aortic valve stenos...	ORPHA:464306
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis, Atrial septal defect	OMIM:614609
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C...	ORPHA:373
Wiedemann-Rautenstrauch Syndrome	Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia, Hypertriglyceridemia	ORPHA:3455
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale, Congenital diap...	OMIM:618454
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi...	ORPHA:352665
3Mc Syndrome 1	Atrial septal defect, Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia	OMIM:257920
Mosaic Trisomy 16	Atrial septal defect, Ventricular septal defect, Abnormal heart morphology	ORPHA:1708
Holoprosencephaly	Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphrag...	ORPHA:2162
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ...	OMIM:274000
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio...	ORPHA:189427
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon contracture, Mitral ...	OMIM:218040
Trichothiodystrophy	Cardiomyopathy, Multiple joint contractures, Ventricular septal defect	ORPHA:33364
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger	ORPHA:251014
Feingold Syndrome 1	Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis, Polyhydramnios	OMIM:164280
Opitz Gbbb Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial sep...	ORPHA:2745
Oculodentodigital Dysplasia	Arrhythmia, Ventricular septal defect, Camptodactyly of finger	ORPHA:2710
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Atrial septal defect, Atriove...	ORPHA:3047
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Skeletal muscle ...	OMIM:139210
Phace Association	Ventricular septal defect	OMIM:606519
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Stillbirth, Transposition of the great arteries, Campt...	OMIM:256520
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia	OMIM:264090
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndrome, Peritonitis, H...	ORPHA:2968
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly...	ORPHA:567
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Mac...	ORPHA:261337
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ...	OMIM:301043
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm...	ORPHA:466791
De Barsy Syndrome	Decreased muscle mass, Ventricular septal defect	ORPHA:2962
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
7Q11.23 Microduplication Syndrome	Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Congenital diaphragmatic ...	ORPHA:96121
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Polyhydramnios	ORPHA:436252
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f...	ORPHA:3472
Noonan Syndrome 1	Ventricular septal defect, Lymphedema, Chylothorax, Pulmonic stenosis, Atrial septal defect, Hype...	OMIM:163950
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal...	ORPHA:1507
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu...	ORPHA:97360
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Tetralogy of Fallot, Ventricular septal defect	OMIM:600460
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Joint contracture of the hand, Transposition of the great arteries, Su...	OMIM:280000
Fanconi Anemia, Complementation Group C	Flexion contracture, Ventricular septal defect	OMIM:227645
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Marshall-Smith Syndrome	Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,...	OMIM:602535
Pallister-Hall Syndrome	Neonatal death, Ventricular septal defect	OMIM:146510
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Flexion contracture, Knee flexion contracture, Hypocalcemia, Diaphragmatic eventra...	OMIM:619503
Coffin-Siris Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology	ORPHA:1465
Diamond-Blackfan Anemia	Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Atrial septal de...	ORPHA:124
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Ventricular septal defect	OMIM:619575
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Increased nuchal tran...	ORPHA:818
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag...	ORPHA:363958
Jacobsen Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect	OMIM:147791
Chime Syndrome	Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre...	ORPHA:3474
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios	OMIM:608670
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he...	ORPHA:268261
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios	ORPHA:1199
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:904
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph...	ORPHA:2369
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Upper limb amyotrophy, Upper eyelid ede...	OMIM:616268
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri...	OMIM:271640
Hydrolethalus Syndrome 1	Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Stillbirth, Ag...	OMIM:236680
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Cerebrocostomandibular Syndrome	Atrial septal defect, Ventricular septal defect, Elbow flexion contracture, Polyhydramnios	OMIM:117650
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ...	OMIM:613458
Hardikar Syndrome	Ventricular septal defect, Portal hypertension, Hematemesis, Partial anomalous pulmonary venous r...	OMIM:301068
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Decreased serum iron, Abnormal heart morphology...	ORPHA:438213
Cornelia De Lange Syndrome 1	Elbow flexion contracture, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:122470
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Degcags Syndrome	Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Pulmonic steno...	OMIM:619488
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Flexion contracture, Double outlet right ventricle, Mitr...	OMIM:300166
Alzahrani-Kuwahara Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement	OMIM:619268
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint...	ORPHA:459070
Acute Transverse Myelitis	Orthostatic hypotension, Decreased circulating copper concentration, Subarachnoid hemorrhage, Upp...	ORPHA:139417
Cerebrocostomandibular Syndrome	Ventricular septal defect	ORPHA:1393
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A...	OMIM:105650
Jacobsen Syndrome	Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart	ORPHA:2308
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, O...	ORPHA:508488
Johanson-Blizzard Syndrome	Ventricular septal defect, Increased VLDL cholesterol concentration, Portal hypertension, Conjuga...	OMIM:243800
Larsen Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:150250
Hajdu-Cheney Syndrome	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis	ORPHA:955
Immunodeficiency 47	Hypercholesterolemia, Tricuspid regurgitation, Decreased circulating copper concentration	OMIM:300972
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Hypertension, Hypoalbuminemia, Elevated circulating 7-dehydrocholester...	OMIM:270400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ...	ORPHA:353281
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed...	OMIM:619475
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Polyhydr...	ORPHA:96334
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Polyhydramnios, Flexion contracture, Mitral valve prolapse, Perimembra...	OMIM:180849
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly	OMIM:616145
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Patent foramen ovale	OMIM:616975
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Microphthalmia, Syndromic 3	Ventricular septal defect	OMIM:206900
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:154400
Zttk Syndrome	Atrial septal defect, Flexion contracture, Ventricular septal defect, Aortic regurgitation	OMIM:617140
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep...	OMIM:309500
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:49
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Po...	OMIM:312870
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,...	ORPHA:353277
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Hajdu-Cheney Syndrome	Ventricular septal defect	OMIM:102500
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal...	OMIM:214800
Williams-Beuren Syndrome	Bicuspid aortic valve, Hypercalcemia, Ventricular septal defect, Portal hypertension, Flexion con...	OMIM:194050
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Keutel Syndrome	Hypertension, Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Omodysplasia 1	Atrial septal defect, Ventricular septal defect	OMIM:258315
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Occipital Horn Syndrome	Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating...	OMIM:304150
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Wrinkly Skin Syndrome	Decreased muscle mass, Atrial septal dilatation, High nonceruloplasmin-bound serum copper	ORPHA:2834
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula...	OMIM:619472
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Ventricular septal defect	ORPHA:513456
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept...	OMIM:606170
Mowat-Wilson Syndrome	Ventricular septal defect, Generalized muscle hypertrophy, Abnormal heart morphology, Pulmonic st...	OMIM:235730
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect	OMIM:619525
Ulnar-Mammary Syndrome	Elbow flexion contracture, Arrhythmia, Ventricular septal defect	OMIM:181450
Sotos Syndrome	Hip contracture, Ventricular septal defect, Hypercalcemia, Ankle flexion contracture, Bilateral c...	ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect, Hypocalcemia	OMIM:620330
Cornelia De Lange Syndrome	Atrial septal defect, Increased nuchal translucency, Ventricular septal defect, Congenital diaphr...	ORPHA:199
Roberts-Sc Phocomelia Syndrome	Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Elbow flexion contracture, ...	OMIM:268300
Digeorge Syndrome	Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia	OMIM:188400
Wolf-Hirschhorn Syndrome	Atrial septal defect, Decreased muscle mass, Ventricular septal defect	OMIM:194190
Vater/Vacterl Association	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	OMIM:192350
Coffin-Siris Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic he...	OMIM:135900
Pallister-Hall Syndrome	Ventricular septal defect, Distal arthrogryposis, Atrial septal defect, Atrioventricular canal de...	ORPHA:672
Peters-Plus Syndrome	Ventricular septal defect, Diastasis recti, Polyhydramnios, Pulmonic stenosis, Atrial septal defect	OMIM:261540
Orofaciodigital Syndrome Xiv	Atrial septal defect, Ventricular septal defect	OMIM:615948
Orofaciodigital Syndrome Type 14	Ventricular septal defect	ORPHA:434179
Proboscis Lateralis	Ventricular septal defect	ORPHA:141099
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Pulmona...	OMIM:216340
Kabuki Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:147920
Pallister-Killian Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydr...	OMIM:601803
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Ventricular septal defect	OMIM:619522
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:107480
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Flexion co...	ORPHA:261552
Craniofacial Microsomia 1	Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial musculature	OMIM:164210
Congenital Disorder Of Glycosylation, Type Iin		OMIM:616721

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 Slc39a8

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 Slc39a8.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Metal-ion transporter SLC39A8 is required for brain manganese uptake and accumulation.	The Journal of biological chemistry (July 2023)	Slc39a8^{tm1a(EUCOMM)Wtsi}	PMC10457451
Critical Role of Zinc Transporter (ZIP8) in Myeloid Innate Immune Cell Function and the Host Response against Bacterial Pneumonia.	Journal of immunology (Baltimore, Md. : 1950) (August 2021)	Slc39a8^{tm1c(EUCOMM)Wtsi}	34380651
Imbalance in zinc homeostasis enhances lung Tissue Loss following cigarette smoke exposure.	Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) (February 2020)	Slc39a8^{tm1a(EUCOMM)Wtsi}	32155573
Regulation of the catabolic cascade in osteoarthritis by the zinc-ZIP8-MTF1 axis.	Cell (February 2014)	Slc39a8^{tm1a(EUCOMM)Wtsi} Slc39a8^{tm1b(EUCOMM)Wtsi}	24529376

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
Slc39a8^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Slc39a8^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Slc39a8^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slc39a8 MGI:1914797

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Embryo LacZ

Echo

X-ray

X-ray

Adult LacZ

MicroCT E14.5-E15.5

Auditory Brain Stem Response

Human diseases caused by Slc39a8 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data