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Gene: Nt5e MGI:99782

Gene Summary

Name:

5' nucleotidase, ecto

Synonyms:

ecto-5'-nucleotidase, CD73, Nt5, 2210401F01Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal heart morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
urinary bladder obstruction	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged testis	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Nt5e^em1(IMPC)Mbp	HOM	Early adult	7.52×10^-05
small kidney	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	7.12×10^-05
abnormal spleen morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Nt5e 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 Nt5e (2 diseases)
Human diseases predicted to be associated with Nt5e (766 diseases)

The table below shows human diseases associated to Nt5e by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hereditary Arterial And Articular Multiple Calcification Syndrome		Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Calcification Of Joints And Arteries		Intermittent claudication	OMIM:211800

The table below shows human diseases predicted to be associated to Nt5e by phenotypic similarity.

Disease	Matching phenotypes	Source
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Glanzmann Thrombasthenia 2	Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Decreased platelet g...	OMIM:619267
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce...	OMIM:619130
Platelet Signal Processing Defect	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:173590
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration, Abnor...	ORPHA:2843
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Impaired clot ret...	OMIM:273800
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced...	OMIM:618462
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired A...	OMIM:615888
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Thrombocytopenia	ORPHA:231393
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired epinephrine-induced plat...	OMIM:187950
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time	OMIM:314560
Bleeding Disorder, Platelet-Type, 11	Abnormal platelet count, Impaired collagen-induced platelet aggregation, Epistaxis, Prolonged ble...	OMIM:614201
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis,...	OMIM:614009
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal...	OMIM:619902
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Thrombocytopenia, Raynaud phenomenon, Abnormal platelet aggregation	ORPHA:401945
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia	OMIM:124900
Tatsumi Factor Deficiency	Prolonged bleeding time	OMIM:272650
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Platelet Disorder, Undefined	Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia	OMIM:173420
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Giant platelets, Impaired ADP-induced platelet...	OMIM:155100
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, Macrothr...	OMIM:187800
Bleeding Disorder, Platelet-Type, 8	Epistaxis, Impaired ADP-induced platelet aggregation	OMIM:609821
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation, Joint hemorrhage, Epistaxis, Intestinal bleeding	OMIM:605735
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita	OMIM:208155
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Thrombocytopenia, Giant platelets	OMIM:608404
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Megalencephaly	Atrial septal defect, Macroorchidism, Long penis	ORPHA:2477
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Bleeding Disorder, Platelet-Type, 25	Spontaneous, recurrent epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-in...	OMIM:620486
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Oligozoospermia, Macroorchidism, Long penis	ORPHA:3000
Ethanolaminosis	Cardiomegaly	OMIM:227150
Quebec Platelet Disorder	Thrombocytopenia, Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis	OMIM:601709
Scleroderma, Familial Progressive	Calcinosis	OMIM:181750
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism	OMIM:274205
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Epistaxis, Thrombocytopenia, Macrothrombocytopenia,...	OMIM:231200
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia, Epistaxis, Prolonged bleeding ...	OMIM:277480
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Hyperechogenic kidneys, Ambig...	OMIM:613885
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Ataxia-Pancytopenia Syndrome	Decreased circulating antibody level, Abnormal platelet function	ORPHA:2585
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Lethargy	ORPHA:254857
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Ventricular septal defect, Optic disc pallor, Cataract, Cryptorchid...	OMIM:613730
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ...	OMIM:602088
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Glycine Encephalopathy 1	Irritability, Lethargy	OMIM:605899
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Abnormal platelet function, Joint hemorrhage, Epi...	ORPHA:903
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy...	OMIM:618280
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Absence of alpha ...	OMIM:187900
Hemochromatosis, Type 2A	Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Lethargy	OMIM:602390
Fragile X Syndrome	Macroorchidism, postpubertal, Mitral valve prolapse, Congenital macroorchidism	OMIM:300624
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:614171
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia	OMIM:211900
Cardiomyopathy, Familial Hypertrophic, 2	Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br...	OMIM:115195
Morm Syndrome	Cataract, Abnormality of the kidney, Retinal atrophy, Micropenis	ORPHA:75858
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Impaired platelet aggregation, Abnormal platelet shape, Impaired ...	OMIM:601399
Hermansky-Pudlak Syndrome 3	Impaired platelet aggregation, Spontaneous, recurrent epistaxis, Abnormal number of dense granules	OMIM:614072
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy	ORPHA:79283
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Meacham Syndrome	Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a...	OMIM:608978
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Partington Syndrome	Macroorchidism	ORPHA:94083
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract, ...	ORPHA:1381
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal seg...	OMIM:617303
Hereditary Central Diabetes Insipidus	Irritability, Lethargy	ORPHA:30925
Glanzmann Thrombasthenia	Prolonged bleeding time, Gastrointestinal hemorrhage, Impaired ristocetin-induced platelet aggreg...	ORPHA:849
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Lethargy	ORPHA:26792
Hermansky-Pudlak Syndrome 7	Impaired platelet aggregation, Prolonged bleeding time, Epistaxis	OMIM:614076
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Central Diabetes Insipidus	Depression, Dehydration, Lethargy	ORPHA:178029
Idiopathic Congenital Hypothyroidism	Facial edema, Lethargy, Bradycardia	ORPHA:95717
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Impaired platelet aggregation, Aortic valve stenosis, Joint hemorrha...	OMIM:193400
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Calcinosis, Hyperlipidemia	ORPHA:90154
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
1Q21.1 Microduplication Syndrome	Cataract, Cryptorchidism, Tetralogy of Fallot, Hypospadias	ORPHA:250994
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Galactosemia Ii	Cataract, Prolonged neonatal jaundice, Galactosuria	OMIM:230200
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia...	OMIM:603585
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Paroxysmal atrial tachycardia, Cardiac arrest, Lethargy	ORPHA:49827
Lujan-Fryns Syndrome	Atrial septal defect, Macroorchidism	ORPHA:776
Galactosemia Iv	Cataract, Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
47,Xyy Syndrome	Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ...	ORPHA:8
Severe Canavan Disease	Irritability, Lethargy	ORPHA:314911
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
Primary Hyperoxaluria Type 1	Hyperoxaluria, Calcinosis, Abnormal circulating enzyme concentration	ORPHA:93598
Fragile X Syndrome	Macroorchidism, Mitral valve prolapse	ORPHA:908
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Factor V Deficiency	Prolonged prothrombin time, Prolonged bleeding time, Epistaxis	OMIM:227400
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Vitamin B12-Responsive Methylmalonic Acidemia	Dehydration, Lethargy	ORPHA:28
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Cardiomega...	OMIM:608836
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Bernard-Soulier Syndrome	Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Spontaneous, recurrent epistaxis, Decr...	ORPHA:274
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Combined Oxidative Phosphorylation Deficiency 2	Edema, Lethargy	OMIM:610498
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Pulmonary arterial hypertension, Syncope	OMIM:265400
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Lethargy	ORPHA:276556
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascit...	OMIM:256550
H Syndrome	Corneal arcus, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, Decrease...	ORPHA:168569
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Juvenile cataract, Male hypogonadism, Macroorchidism	OMIM:300055
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:613873
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Hypertrophic cardiomyopathy	OMIM:246900
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Abnorma...	ORPHA:562
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Mitral valve prolapse, Iris coloboma	OMIM:618874
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Developmental And Epileptic Encephalopathy 40	Lethargy	OMIM:617065
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impaired collagen-rela...	OMIM:153670
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Lethargy	ORPHA:276575
Isovaleric Acidemia	Cerebellar hemorrhage, Dehydration, Lethargy	OMIM:243500
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Idiopathic Intracranial Hypertension	Depression, Abnormal emotion, Lethargy	ORPHA:238624
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Epis...	OMIM:614074
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Hypertrophic cardiomyopathy, Syncope, Palpitations, Lethargy	ORPHA:276580
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79444
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Lethargy	ORPHA:276608
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular con...	OMIM:212138
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Elbow flexion contracture, Hyperlipidemia, Camptodactyly, Flexion contracture, Hyperc...	OMIM:248370
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Evans Syndrome	Syncope, Epistaxis, Lethargy	ORPHA:1959
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypocalcemia, Hyponatremia, Calcinosis, Hypokalemia	OMIM:617913
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Hypertrophic cardiomyopathy	OMIM:613561
Juvenile Dermatomyositis	Myositis, Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:93672
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Cardiomyopathy, Dehydration, Hypertrophic cardiomyopathy, Mitral regurg...	OMIM:212140
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Cardiomyopathy	ORPHA:53296
Senior-Loken Syndrome	Nephronophthisis, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Chronic kidne...	ORPHA:3156
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy, Lethargy	ORPHA:79230
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephro...	ORPHA:505248
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Lethargy, Dehydration	ORPHA:79312
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Abnormality of retinal pigmentation, Th...	ORPHA:858
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Irritability, Lethargy	ORPHA:101150
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly	OMIM:269920
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Palpitations, Lethargy, Tachycardia	ORPHA:324575
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Irritability, Cerebral edema, Lethargy	OMIM:237300
Trisomy 20P	Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal...	ORPHA:261318
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Hypertrophic cardiomyopathy	OMIM:618228
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio...	ORPHA:449395
Central Neurocytoma	Depression, Lethargy	ORPHA:73256
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Lethargy, Dehydration	ORPHA:27
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Ventricular tachycardia, Dilated cardiomyopathy, Lethargy	OMIM:600649
Susac Syndrome	Abnormal emotion, Apathy, Lethargy	ORPHA:838
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Cyclic Vomiting Syndrome	Cardiomyopathy, Lethargy	OMIM:500007
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Typhoid	Gastrointestinal hemorrhage, Cardiac arrest, Epistaxis, Arrhythmia, Lethargy	ORPHA:99745
Dengue Fever	Gastrointestinal hemorrhage, Hypotension, Ascites, Epistaxis, Cerebral hemorrhage, Lethargy	ORPHA:99828
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79443
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:156
Leukoencephalopathy With Vanishing White Matter 1	Emotional lability, Lethargy	OMIM:603896
Polyembryoma	Isosexual precocious puberty, Macroorchidism, Abdominal mass, Abnormal peritoneum morphology	ORPHA:180229
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomegaly, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial ...	OMIM:261740
Prothrombin Deficiency, Congenital	Prolonged prothrombin time, Gastrointestinal hemorrhage, Joint hemorrhage, Epistaxis, Prolonged b...	OMIM:613679
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopenia, Epistaxis, Pro...	OMIM:314050
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Laurence-Moon Syndrome	Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the urethral meatus, Cataract, ...	ORPHA:2377
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Impaired neutrophil chemotaxis, Reduced natural k...	OMIM:619374
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Atrial s...	OMIM:618652
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Hypertrophic cardiomyopathy	OMIM:619386
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Pyruvate Dehydrogenase E3 Deficiency	Abnormal cardiac ventricular function, Cardiomyopathy, Lethargy	ORPHA:2394
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro...	ORPHA:91349
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Lethargy	OMIM:618120
Mulibrey Nanism	Hepatomegaly, Astigmatism, Corneal dystrophy, Ascites, Pericardial constriction, Myocardial fibro...	OMIM:253250
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Cataract, Ambiguous genitalia, Cryptorchidism, Hy...	ORPHA:2772
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Testicular atroph...	OMIM:235200
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema, Edema	OMIM:178400
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Irritability, Lethargy	OMIM:229700
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Prolonged bleeding time, Pulmonary...	ORPHA:238459
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy, Pulmonary arterial hypertension	OMIM:619064
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Enlarged kidney, Astigmatism, Abnormal right ventricle morphology, Chronic neu...	ORPHA:500095
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Emotional lability, Cerebral ischemia, Lethargy	ORPHA:927
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Rothmund-Thomson Syndrome Type 2	Long nose, Calcinosis	ORPHA:221016
Mitochondrial Complex I Deficiency, Nuclear Type 5	Irritability, Lethargy	OMIM:618226
Leber Congenital Amaurosis 1	Hepatomegaly, Optic disc drusen, Keratoconus, Hyperthreoninuria, Cataract, Pigmentary retinopathy	OMIM:204000
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Cardi...	ORPHA:93476
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Isolated Follicle Stimulating Hormone Deficiency	Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D...	ORPHA:52901
Infantile Liver Failure Syndrome 2	Cardiomyopathy, Lethargy	OMIM:616483
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Congestive heart failure, Aortic regurgitation, Left ventricular ...	ORPHA:3092
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Cataract, Retinal degeneration	OMIM:266500
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232200
Hypercalcemia, Infantile, 1	Dehydration, Lethargy	OMIM:143880
Cirrhosis, Familial	Ascites, Hypertension, Lethargy, Pulmonary arterial hypertension	OMIM:215600
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Irritability, Lethargy	OMIM:250620
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Cardiomyopathy, Iris hypopigmentation, Thrombocytopenia, Cataract	ORPHA:67048
Storage Pool Platelet Disease	Decreased mean platelet volume, Prolonged bleeding time	OMIM:185050
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Pseudo-Torch Syndrome 2	Bradycardia, Pleural effusion, Ascites, Cerebral hemorrhage, Lethargy	OMIM:617397
Riboflavin Deficiency	Lethargy	OMIM:615026
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Cardiomyopathy, Sideroblast...	OMIM:222300
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Hydrops fetalis, Arrhythmia, Dilated cardiomyopathy, Lethargy	OMIM:609015
Congenital Rubella Syndrome	Atrial septal defect, Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pig...	ORPHA:290
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Meningococcal Meningitis	Lethargy, Irritability, Hypotension, Shock	ORPHA:33475
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, I...	ORPHA:1473
Rothmund-Thomson Syndrome	Calcinosis	ORPHA:2909
Familial Thyroid Dyshormonogenesis	Facial edema, Lethargy, Bradycardia	ORPHA:95716
Alg9-Cdg	Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary...	ORPHA:79328
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Impaired platelet adhesion, Joint hemorrhage, Epistaxis, Intracrania...	ORPHA:324636
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Keratoconjunctivitis sicca	ORPHA:79128
Hyperphenylalaninemia, Bh4-Deficient, B	Irritability, Lethargy	OMIM:233910
Rothmund-Thomson Syndrome Type 1	Calcinosis	ORPHA:221008
Wagr Syndrome	Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri...	ORPHA:893
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris	ORPHA:140905
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ventricular septal defect, Macroorchidism	OMIM:309520
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Staphylococcal Necrotizing Pneumonia	Pleural empyema, Pleural effusion, Hypotension, Lethargy, Shock	ORPHA:36238
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Irritability, Lethargy	ORPHA:2089
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy, Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndr...	OMIM:105120
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Cardiomyopathy, Hypotension, Arrhythmia, Ventricular tachycardia, Lethargy	ORPHA:159
Developmental And Epileptic Encephalopathy 41	Irritability, Lethargy	OMIM:617105
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c...	OMIM:618052
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal...	ORPHA:116
Necrotizing Enterocolitis	Bradycardia, Ascites, Hypotension, Edema, Lethargy, Shock	ORPHA:391673
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Propionic Acidemia	Cerebellar hemorrhage, Cardiomyopathy, Lethargy, Dehydration	OMIM:606054
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Oligosacchariduria, Cardiomegaly	ORPHA:3137
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Reynolds Syndrome	Hyperbilirubinemia, Calcinosis	OMIM:613471
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene...	OMIM:214110
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Lethargy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:254913
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Classic Galactosemia	Depression, Ascites, Lethargy	ORPHA:79239
Myh9-Related Disease	Giant platelets, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Congenital thr...	ORPHA:182050
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia	OMIM:300835
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor	OMIM:619170
Pontocerebellar Hypoplasia, Type 6	Lethargy	OMIM:611523
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Hermansky-Pudlak Syndrome 11	Impaired collagen-induced platelet aggregation, Epistaxis, Reduced platelet dense granules	OMIM:619172
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Megalocornea, Hypertrophic cardiomyopathy, Mucopolysacchariduria, ...	OMIM:252500
Wiskott-Aldrich Syndrome	Hematemesis, Vasculitis, Abnormal platelet function, Internal hemorrhage, Epistaxis, Hematochezia...	ORPHA:906
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Elevated jugular venous pressure, Cardiomyopathy, Portal hypertension, ...	ORPHA:465508
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo...	ORPHA:1067
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract, Mesangial hypercellularity, Nephrotic syndrome, Focal segmental glomerulosclerosis	OMIM:620425
Cholera	Irritability, Dehydration, Hypovolemic shock, Hypotension, Tachycardia, Lethargy	ORPHA:173
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Cataract,...	OMIM:620609
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Lethargy, Hypertrophic cardiomyopathy	OMIM:614299
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Splenic cyst, Abnormal peritoneum morphology, ...	ORPHA:400
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Arrhythmia	ORPHA:42
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy	OMIM:312170
Hepatic Lipase Deficiency	Angina pectoris	OMIM:614025
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Cardiomyopathy, Lethargy, Dehydration	OMIM:251000
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism	ORPHA:363741
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Irritability, Cerebral edema, Tachycardia, Dilated cardiomyopathy, Lethargy	OMIM:618321
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Ventricular fibrillation, Pericardial effusion, Atrioventricular block, Ar...	ORPHA:26793
Scrub Typhus	Myocarditis, Hypotension, Lethargy	ORPHA:83317
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Pulmonary lymphangiectasia, Mitral valve prolapse, Catar...	OMIM:247410
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Congestive heart failure, Myocardial infarction	OMIM:176670
Trichinellosis	Irritability, Retinal hemorrhage, Periorbital edema, Edema, Facial edema, Apathy, Lethargy	ORPHA:863
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,...	OMIM:264800
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron defici...	OMIM:300855
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t...	OMIM:618886
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Sudden cardiac death, Reduced left ventricular ejection fraction, Le...	OMIM:201475
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cardiac arrest, Lethargy, Hypertrophic cardiomyopathy	OMIM:604377
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Renal Hypoplasia, Bilateral	Edema, Hypertension, Oligohydramnios, Lethargy	ORPHA:97362
Partial Atrioventricular Septal Defect	Atrial flutter, Angina pectoris, Transient ischemic attack, Atrial arrhythmia, Aortic valve steno...	ORPHA:1330
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy	OMIM:236270
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Hepatic fibrosis, Splenomegaly, Chronic kidney disea...	OMIM:615630
Aromatase Deficiency	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female...	ORPHA:91
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv...	ORPHA:3093
Combined Oxidative Phosphorylation Deficiency 11	Polyhydramnios, Cardiomyopathy, Lethargy	OMIM:614922
Hereditary Bullous Dystrophy, Macular Type	External genital hypoplasia, Corneal opacity, Decreased testicular size, Abnormal heart morpholog...	ORPHA:1867
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Holocarboxylase Synthetase Deficiency	Irritability, Lethargy	ORPHA:79242
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Abnormal cardiac ...	ORPHA:3376
Proteus Syndrome	Enlarged kidney, Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplasm, Retinal nonattac...	ORPHA:744
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat...	ORPHA:158057
Catastrophic Antiphospholipid Syndrome	Myocarditis, Myocardial infarction, Angina pectoris, Transient ischemic attack, Pulmonary arteria...	ORPHA:464343
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Cataract, Stag...	OMIM:614376
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopat...	OMIM:602782
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Increased level of galactitol in urine, Hepatosplen...	ORPHA:79237
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Pulmonary arterial hypertension	OMIM:614857
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Insulinoma	Palpitations, Lethargy	ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly	OMIM:614702
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Hypothyroidism Due To Tsh Receptor Mutations	Edema, Lethargy, Bradycardia	ORPHA:90673
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Enlarged ovaries...	ORPHA:508
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Galactosemia I	Cirrhosis, Hepatomegaly, Galactosuria, Hypergonadotropic hypogonadism, Increased level of galacti...	OMIM:230400
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Isolated Thyroid-Stimulating Hormone Deficiency	Pituitary hypothyroidism, Thyroid hypoplasia, Prolonged neonatal jaundice, Goiter, Increased circ...	ORPHA:90674
Ogden Syndrome	Cardiogenic shock, Lethargy, Arrhythmia	ORPHA:276432
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Cerebral edema, Lethargy	OMIM:201450
Aromatic L-Amino Acid Decarboxylase Deficiency	Emotional lability, Irritability, Hypotension, Lethargy	OMIM:608643
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Lethargy	ORPHA:289916
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Pancytopenia, Renal dysplasia, Bifid scrotum, Renal hypoplasia, Cataract, Cr...	ORPHA:85321
Zellweger Syndrome	Optic atrophy, Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Corneal opacity, Ventri...	ORPHA:912
Fish-Eye Disease	Angina pectoris	ORPHA:79292
Maple Syrup Urine Disease, Type Ia	Cerebral edema, Lethargy	OMIM:248600
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma	OMIM:601794
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Thickened glomerular basemen...	OMIM:203780
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Astigmatism, Decreased response to growth hormone stimulation test, Recurrent ur...	OMIM:615873
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Retinal detachment, Macular degeneration, Lens luxation, Vesicourete...	OMIM:120330
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Reduced left ventricular ejection fraction, Atrial fibrillation, Depression, Bipola...	ORPHA:254892
Eisenmenger Syndrome	Ascites, Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure...	ORPHA:97214
Histiocytoid Cardiomyopathy	Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial...	ORPHA:137675
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Mitral regurgitati...	ORPHA:746
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept...	OMIM:616897
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Hypotension, Dehydration, Edema, Dilated cardiomyopathy, Apathy, Lethargy	ORPHA:20
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Astigmatism, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Card...	OMIM:617713
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla...	OMIM:120200
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangi...	ORPHA:1655
Familial Hypoaldosteronism	Hypotension, Orthostatic hypotension, Hypovolemia, Lethargy	ORPHA:427
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Methylcobalamin Deficiency Type Cble	Hypertension, Lethargy	ORPHA:2169
Hsd10 Disease, Infantile Type	Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Retinal degeneration, Abnormal concentr...	ORPHA:391428
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Lethargy	OMIM:250940
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Arrhythmia	OMIM:255120
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Microcornea, Spherocytosis, Splenomegaly, Hypogonadism, Mitral ...	ORPHA:251066
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous...	ORPHA:261534
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Dehydration, Lethargy	OMIM:251110
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy	OMIM:238970
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Multiple Mitochondrial Dysfunctions Syndrome 1	Lethargy, Pulmonary arterial hypertension	OMIM:605711
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Lethargy	ORPHA:263455
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal hear...	ORPHA:488618
Polycythemia Vera	Gastrointestinal hemorrhage, Thrombocytosis, Angina pectoris, Hypertension, Budd-Chiari syndrome,...	ORPHA:729
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Developmental cataract, Sple...	OMIM:618440
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Citrullinemia Type Ii	Irritability, Mania, Cerebral edema, Lethargy	ORPHA:247585
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, He...	ORPHA:1359
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Emotional lability, Irritability, Lethargy	OMIM:201100
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypo...	OMIM:301108
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Citrullinemia Type I	Lethargy	ORPHA:247525
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Ventricular sept...	OMIM:312870
Mogs-Cdg	Optic atrophy, External genital hypoplasia, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, L...	ORPHA:79330
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation	OMIM:618372
Micro Syndrome	Optic atrophy, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Retinal coloboma, Clit...	ORPHA:2510
Citrullinemia, Classic	Irritability, Cerebral edema, Lethargy	OMIM:215700
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Posterior Urethral Valve	Hypertension, Oligohydramnios, Lethargy	ORPHA:93110
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S...	ORPHA:79477
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog...	ORPHA:228308
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite...	ORPHA:36412
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Pleural effusion, Lethargy, Pulmonary arterial hypertension	OMIM:620233
Resistance To Thyrotropin-Releasing Hormone Syndrome	Depression, Lethargy	ORPHA:99832
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Congenital Disorder Of Glycosylation, Type Ig	Edema, Polyhydramnios, Lethargy	OMIM:607143
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme...	ORPHA:585
Proteus-Like Syndrome	Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb...	ORPHA:2969
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism, Unilateral renal hypoplasia	OMIM:619950
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Patent foramen ovale, Thrombocytopenia, Splenomegaly, Cataract, Opacifica...	OMIM:251290
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu...	OMIM:614075
Chops Syndrome	Optic atrophy, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Anomalous ...	OMIM:616368
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Kapur-Toriello Syndrome	Iris coloboma, Abnormality of the urinary system, Ventricular septal defect, Retinal coloboma, Ca...	OMIM:244300
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent foramen ovale, Hydronephrosis, Cataract, Atrial septal defect, Cryptorchidism	OMIM:620327
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy	OMIM:611590
Meckel Syndrome	Optic atrophy, Situs inversus totalis, Ureteral duplication, Multicystic kidney dysplasia, Access...	ORPHA:564
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Anem...	ORPHA:231222
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Cataract, Aspartylglucosaminuria, Macroorchidism, Neutropenia	OMIM:208400
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h...	ORPHA:758
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy	OMIM:615838
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Ascites, Polyhydramnios, Lethargy	OMIM:617156
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Lethargy	OMIM:201470
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Fabry Disease	Congestive heart failure, Angina pectoris, Hypertension, Transient ischemic attack, Arrhythmia, M...	OMIM:301500
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Genetic Transient Congenital Hypothyroidism	Edema, Lethargy	ORPHA:226316
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ventricular septal defect, Ascites, Hydronephrosis, Sp...	OMIM:235255
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Prolonged QT interval, Lethargy, Hypertrophic cardiomyopathy	ORPHA:71212
Alpha-Mannosidosis, Adult Form	Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Optic disc pallor	ORPHA:309288
Medulloblastoma	Irritability, Cerebellar hemorrhage, Lethargy	ORPHA:616
Chédiak-Higashi Syndrome	Increased proportion of CD25+ mast cells, Abnormal platelet function, Abnormality of neutrophil p...	ORPHA:167
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Basal Ganglia Disease, Biotin-Thiamine Responsive	Irritability, Lethargy	OMIM:607483
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis, Hypoparathyroidism	OMIM:146200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t...	OMIM:221900
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Irritability, Cerebral edema, Lethargy	OMIM:311250
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Lethargy	ORPHA:319218
Warburg Micro Syndrome 2	Optic atrophy, Small scrotum, Microcornea, Developmental cataract, Cataract, Cryptorchidism, Micr...	OMIM:614225
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Holocarboxylase Synthetase Deficiency	Irritability, Lethargy	OMIM:253270
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ectopic posterior pitu...	OMIM:610125
Pseudoxanthoma Elasticum, Forme Fruste	Angina pectoris, Gastrointestinal hemorrhage, Cerebral hemorrhage, Retinal hemorrhage	OMIM:177850
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow...	ORPHA:549
Aspartylglucosaminuria	Hepatomegaly, Splenomegaly, Aspartylglucosaminuria, Macroorchidism	ORPHA:93
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Optic nerve dysplasia...	OMIM:614866
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Conjunctival icterus, Ascites, Right ...	ORPHA:57777
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Encephalitis Lethargica	Lethargy, Bradycardia	ORPHA:83600
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomyopathy, C...	OMIM:619259
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Mul...	ORPHA:3301
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Tricuspid regurgitation	OMIM:620306
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Fem...	OMIM:240300
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation, Epistaxis	OMIM:614077
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Pinguecula, Cholelithiasis, Pancytopenia, Hematuria, Biliary tra...	ORPHA:77259
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Apolipoprotein A-I Deficiency	Angina pectoris	ORPHA:425
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Sitosterolemia 1	Impaired platelet aggregation, Thrombocytopenia, Giant platelets	OMIM:210250
Knobloch Syndrome	Dextrocardia, Retinal detachment, Macular degeneration, Vesicoureteral reflux, Ectopia lentis, Ly...	ORPHA:1571
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re...	OMIM:243605
Argininosuccinic Aciduria	Irritability, Cerebral edema, Lethargy	OMIM:207900
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepatitis, Chronic he...	OMIM:614921
Mucopolysaccharidosis Type 3	Optic atrophy, Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Recurrent tonsilliti...	ORPHA:581
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Alagille Syndrome 1	Cholestasis, Prolonged neonatal jaundice, Stage 5 chronic kidney disease, Renal tubular acidosis,...	OMIM:118450
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Mitral valve prolapse, Cataract, Nephropathy	ORPHA:1563
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Developmental glaucoma, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypop...	OMIM:610199
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Enla...	OMIM:608233
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Mgat2-Cdg	Impaired platelet aggregation, Reflex asystolic syncope, Decreased circulating antibody level, De...	ORPHA:79329
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Lethargy	ORPHA:79284
Leiomyomatosis, Diffuse, With Alport Syndrome	Lenticonus, Hematuria, Renal insufficiency, Nephropathy, Microscopic hematuria, Thickened glomeru...	OMIM:308940
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Dihydropyrimidinase Deficiency	Lethargy	OMIM:222748
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
N-Acetylglutamate Synthase Deficiency	Lethargy	OMIM:237310
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat...	OMIM:309801
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Noonan Syndrome	Abnormal platelet function, Abnormal EKG, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:648
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy	OMIM:210200
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Retinal hemorrhage, Thrombocytopenia, Splenomegaly...	ORPHA:294
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93474
Transcobalamin Ii Deficiency	Irritability, Lethargy	OMIM:275350
Methylmalonic Aciduria, Cbla Type	Dehydration, Lethargy	OMIM:251100
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Dehydration, Pulmonary arterial hypertension, Lethargy, Dilated cardiomyopathy, ...	ORPHA:79282
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia, Lethargy	OMIM:277400
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Late-Onset Isolated Acth Deficiency	Orthostatic hypotension, Hypotension, Lethargy	ORPHA:199299
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Aniridia-Absent Patella Syndrome	Cataract, Cryptorchidism, Aniridia	ORPHA:1069
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Cardiomegaly, Congenital hydrocele, Parotitis, Increased B cell c...	OMIM:620376
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia...	ORPHA:84064
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome...	ORPHA:699
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Cockayne Syndrome Type 3	Hepatomegaly, Keratoconjunctivitis sicca, Hydroureter, Unilateral renal agenesis, Corneal ulcerat...	ORPHA:90324
Amoebiasis Due To Free-Living Amoebae	Irritability, Cerebral edema, Lethargy, Arrhythmia	ORPHA:68
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe...	ORPHA:829
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton...	OMIM:249100
Isolated Complex I Deficiency	Lethargy, Hypertrophic cardiomyopathy	ORPHA:2609
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Anemia, Accessory spleen, Patent foramen ovale, Portal hypertension, Renal ...	OMIM:620005
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Xerostomia	ORPHA:398079
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Abnormal heart valve morphology, P...	ORPHA:781
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Cerebral edema, Lethargy, Concentric hypertrophic cardiomyopathy	OMIM:252010
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Marburg Hemorrhagic Fever	Bradycardia, Capillary leak, Dehydration, Hypotension, Hypovolemia, Internal hemorrhage, Pericard...	ORPHA:99826
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C...	OMIM:619991
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Multiple Mitochondrial Dysfunctions Syndrome 7	Irritability, Lethargy	OMIM:620423
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Urinary incontinence, Splenomegaly	OMIM:232300
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch...	ORPHA:308552
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Lethargy	OMIM:277380
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Microphthalmia, Syndromic 2	Hypospadias, Dextrocardia, Retinal detachment, Microcornea, Ventricular septal defect, Remnants o...	OMIM:300166
Magel2-Related Prader-Willi-Like Syndrome	Lethargy, Xerostomia	ORPHA:398069
Fabry Disease	Congestive heart failure, Angina pectoris, Hypertension, Transient ischemic attack, Hypertrophic ...	ORPHA:324
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Retinal detachment, Patent foramen ovale, Retinal hemorrhage, Hepatic...	OMIM:620371
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres...	ORPHA:466650
Williams Syndrome	Hypoplasia of penis, Corneal opacity, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, ...	ORPHA:904
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Atelis Syndrome 2	Anemia, Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Pulmonic stenosi...	OMIM:620185
Cystinosis, Nephropathic	Recurrent corneal erosions, Generalized aminoaciduria, Corneal crystals, Splenomegaly, Stage 5 ch...	OMIM:219800
Microphthalmia, Syndromic 3	Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Ventricular septal defect, Op...	OMIM:206900
Pearson Marrow-Pancreas Syndrome	Hydrops fetalis, Dehydration, Lethargy	OMIM:557000
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Facial edema, Lethargy, Bradycardia	ORPHA:226307
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Semilobar Holoprosencephaly	Irritability, Depression, Abnormal heart rate variability, Apathy, Lethargy	ORPHA:220386
Alobar Holoprosencephaly	Irritability, Depression, Abnormal heart rate variability, Apathy, Lethargy	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Irritability, Depression, Abnormal heart rate variability, Apathy, Lethargy	ORPHA:93926
Lobar Holoprosencephaly	Irritability, Depression, Abnormal heart rate variability, Apathy, Lethargy	ORPHA:93924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s...	OMIM:614643
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy	OMIM:210210
Hurler Syndrome	Angina pectoris, Hypertension, Cardiomyopathy	ORPHA:93473
Dyskeratosis Congenita, X-Linked	Optic atrophy, Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Pterygium, P...	OMIM:305000
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cardiomegaly, Urinary retention...	ORPHA:97297
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Intracranial hemorrhage, Telangiectasia	ORPHA:109
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Biotinidase Deficiency	Lethargy	OMIM:253260
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Hypertension, Cerebral ischemia, Perica...	ORPHA:900
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction	OMIM:213700
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Arrhythmia, Palpitations	ORPHA:565612
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Developmental glaucoma, Patent foramen ovale, Mitral valve prolapse, Left ...	OMIM:245600
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy	ORPHA:395
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Ventricular septal hypertrophy, Acute pancreatitis...	OMIM:269700
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Gaisböck Syndrome	Elevated diastolic blood pressure, Angina pectoris, Hypertension, Hypovolemia, Myocardial infarction	ORPHA:90041
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Corneal ulceration, Reticulocytosis, Abnormality of retinal pigm...	ORPHA:14
Hydranencephaly	Antenatal intracerebral hemorrhage, Lethargy	ORPHA:2177
Multiple Endocrine Neoplasia Type 1	Hematemesis, Melena, Depression, Hypertension, Dehydration, Shortened QT interval, Lethargy	ORPHA:652
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Townes-Brocks Syndrome	Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum, Urethral valve, M...	ORPHA:857
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephrolithiasis, Cardiomyopath...	OMIM:608594
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Bradycardia	OMIM:218700
Dysbetalipoproteinemia	Angina pectoris	ORPHA:412
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa...	OMIM:269200
Biotinidase Deficiency	Lethargy	ORPHA:79241
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Thrombocytopenia, Splenomega...	OMIM:263700
Aicardi-Goutières Syndrome	Developmental glaucoma, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertr...	ORPHA:51
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Ba...	ORPHA:47159
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Tetraamelia Syndrome 1	Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Renal agenesis, Vaginal at...	OMIM:273395
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Cardiomegaly, Renal artery stenosis, Ventricular septal defect...	ORPHA:3472
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Okamoto Syndrome	Astigmatism, Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defec...	ORPHA:2729
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Hereditary Fructose Intolerance	Lethargy	ORPHA:469
Norrie Disease	Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t...	ORPHA:649
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Truncus arteriosus, Renal...	OMIM:188400
Glycine Encephalopathy	Lethargy	ORPHA:407
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Lymphadenopathy, Parotitis, Punctate opacification of the cornea, Thrombocytopenia,...	OMIM:256040
Charge Syndrome	Pulmonic stenosis, Dysplastic tricuspid valve, Lymphopenia, Decreased response to growth hormone ...	OMIM:214800
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Hutchinson-Gilford Progeria Syndrome	Left ventricular systolic dysfunction, Aortic regurgitation, Angina pectoris, Hypertension, Trans...	ORPHA:740
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Lethargy	OMIM:229600
Kufor-Rakeb Syndrome	Bradykinesia, Apathy, Lethargy	ORPHA:306674
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Paroxysmal Nocturnal Hemoglobinuria	Hypertension, Budd-Chiari syndrome, Pulmonary embolism, Lethargy, Myocardial infarction	ORPHA:447
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Atrioventricular canal defect, Splenomegaly, Vaginal atresia, Hor...	OMIM:617088
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy	ORPHA:415
Diamond-Blackfan Anemia	Nonimmune hydrops fetalis, Lethargy	ORPHA:124
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Bartter Syndrome, Type 2, Antenatal	Impaired platelet aggregation, Low-to-normal blood pressure	OMIM:241200
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch...	ORPHA:365
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Retinal hemorrhage, Hyperphosphatur...	ORPHA:51608
Glycerol Kinase Deficiency	Lethargy	OMIM:307030
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Neuroocular Syndrome	Microcornea, Stellate iris, Patent foramen ovale, Remnants of the hyaloid vascular system, Lens c...	OMIM:619539
Homozygous Familial Hypercholesterolemia	Angina pectoris, Hypertension, Mitral regurgitation, Heart murmur, Supravalvular aortic stenosis,...	ORPHA:391665
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Conjunctival icterus, Ascites, Urethrovaginal fistula, Splenomegaly, Septat...	OMIM:243800
Lysinuric Protein Intolerance	Lethargy	ORPHA:470
Pineoblastoma	Lethargy	ORPHA:251909
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system	ORPHA:637
Alström Syndrome	Urinary incontinence, Precocious puberty in females, Recurrent cystitis, Splenomegaly, Retinal pi...	ORPHA:64
Leukocyte Adhesion Deficiency	Impaired platelet aggregation, Abnormality of neutrophil physiology, Bone marrow hypocellularity,...	ORPHA:2968
Holoprosencephaly 2	Single ventricle, Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Iris colo...	OMIM:157170
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Pmm2-Cdg	Angina pectoris, Hypertrophic cardiomyopathy, Pericarditis, Intracranial hemorrhage, Impaired neu...	ORPHA:79318
Hereditary Arterial And Articular Multiple Calcification Syndrome	Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Calcification Of Joints And Arteries	Intermittent claudication	OMIM:211800

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 Nt5e

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Nt5e.

No publications found that use IMPC mice or data for Nt5e.

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MGI Allele	Allele Type	Produced
Nt5e^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Nt5e^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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: Nt5e MGI:99782

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Nt5e mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data