Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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
enlarged heart	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
urinary bladder obstruction	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Nt5e^em1(IMPC)Mbp	HOM	Early adult	6.74×10^-08
enlarged testis	Nt5e^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Nt5e^em1(IMPC)Mbp	HOM	Early adult	6.14×10^-08

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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 Lateral Orientation

14 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

42 Images

View images

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 (756 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		Arterial occlusion, Abnormal cardiovascular system physiology	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	Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce...	OMIM:619267
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Platelet Signal Processing Defect	Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat...	OMIM:173590
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ...	OMIM:273800
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri...	OMIM:615888
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Thrombocytopenia	ORPHA:231393
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg...	OMIM:187950
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time	OMIM:314560
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation	OMIM:618462
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a...	OMIM:614201
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Tumoral Calcinosis, Normophosphatemic, Familial	Calcinosis	OMIM:610455
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis	OMIM:614009
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ...	ORPHA:849
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Tatsumi Factor Deficiency	Prolonged bleeding time	OMIM:272650
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Platelet Disorder, Undefined	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat...	OMIM:155100
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation, Epistaxis	OMIM:609821
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr...	OMIM:187800
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita	OMIM:208155
Bleeding Disorder, Platelet-Type, 12	Joint hemorrhage, Intestinal bleeding, Impaired platelet aggregation, Epistaxis	OMIM:605735
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Megalencephaly	Atrial septal defect, Long penis, Macroorchidism	ORPHA:2477
Ethanolaminosis	Cardiomegaly	OMIM:227150
Quebec Platelet Disorder	Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Scleroderma, Familial Progressive	Calcinosis	OMIM:181750
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Cataract	OMIM:274205
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired ristocetin-induced plat...	OMIM:231200
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content...	OMIM:601399
Von Willebrand Disease, Type 3	Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop...	OMIM:277480
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Epistaxis	OMIM:614158
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, E...	OMIM:613885
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Gray Platelet Syndrome	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb...	OMIM:139090
Ataxia-Pancytopenia Syndrome	Abnormal platelet function, Decreased circulating antibody level	ORPHA:2585
Lethal Infantile Mitochondrial Myopathy	Lethargy, Cardiomyopathy	ORPHA:254857
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchid...	OMIM:613730
Edema, Familial Idiopathic, Prepubertal	Irritability, Edema	OMIM:129840
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Glycine Encephalopathy 1	Irritability, Lethargy	OMIM:605899
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse	OMIM:300624
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Hemochromatosis, Type 2A	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Lethargy, Arrhythmia	OMIM:602390
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o...	OMIM:187900
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe...	OMIM:618280
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr...	OMIM:614840
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules	OMIM:614072
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy	ORPHA:79283
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Partington Syndrome	Macroorchidism	ORPHA:94083
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic ...	ORPHA:464329
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Hypertrophi...	OMIM:617303
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,...	OMIM:608978
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Hereditary Central Diabetes Insipidus	Irritability, Lethargy	ORPHA:30925
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Central Diabetes Insipidus	Lethargy, Dehydration, Depression	ORPHA:178029
Short Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Cardiomyopathy	ORPHA:26792
Galactosemia Ii	Cataract, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation, Epistaxis	OMIM:614076
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Short nose, Hyperlipidemia	ORPHA:90154
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism, Tetra...	ORPHA:1381
Fragile X Syndrome	Macroorchidism, Mitral valve prolapse	ORPHA:908
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Joint hemorrhage, Aortic valve s...	OMIM:193400
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
1Q21.1 Microduplication Syndrome	Cryptorchidism, Cataract, Hypospadias, Tetralogy of Fallot	ORPHA:250994
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
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
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia...	OMIM:603585
Severe Canavan Disease	Irritability, Lethargy	ORPHA:314911
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Premature ovarian insufficiency, Congenital hepati...	ORPHA:3156
Lujan-Fryns Syndrome	Atrial septal defect, Macroorchidism	ORPHA:776
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Lethargy, Cardiac arrest, Congestive heart failure	ORPHA:49827
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain di...	OMIM:608836
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Factor V Deficiency	Prolonged bleeding time, Prolonged prothrombin time, Epistaxis	OMIM:227400
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
H Syndrome	Abnormality of the kidney, Microcytic anemia, Amenorrhea, Hepatosplenomegaly, Lymphadenopathy, Az...	ORPHA:168569
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Methylmalonic Acidemia With Homocystinuria	Lethargy	ORPHA:26
Vitamin B12-Responsive Methylmalonic Acidemia	Lethargy, Dehydration	ORPHA:28
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Combined Oxidative Phosphorylation Deficiency 2	Lethargy, Edema	OMIM:610498
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Isovaleric Acidemia	Lethargy, Cerebellar hemorrhage, Dehydration	OMIM:243500
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Elevated circulating growth hor...	ORPHA:562
Idiopathic Congenital Hypothyroidism	Facial edema, Lethargy, Bradycardia	ORPHA:95717
Pulmonary Hypertension, Primary, 5	Pulmonary arterial hypertension, Syncope, Angina pectoris, Right ventricular failure	OMIM:265400
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276556
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level	ORPHA:93598
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology	ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Iris coloboma, Mitral valve prolapse	OMIM:618874
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism, Juvenile cataract	OMIM:300055
Neuraminidase Deficiency	Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro...	OMIM:256550
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Hypertrophic cardiomyopathy	OMIM:246900
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Developmental And Epileptic Encephalopathy 40	Lethargy	OMIM:617065
Early Myoclonic Encephalopathy	Lethargy	ORPHA:1935
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl...	ORPHA:274
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes	ORPHA:3055
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276575
Morm Syndrome	Micropenis, Cataract, Abnormality of the kidney, Retinal atrophy	ORPHA:75858
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper...	OMIM:235200
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggreg...	OMIM:153670
Idiopathic Intracranial Hypertension	Lethargy, Abnormal emotion, Depression	ORPHA:238624
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet...	OMIM:614074
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy	OMIM:274270
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal...	OMIM:232220
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy	ORPHA:276580
Polyembryoma	Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Irregular menstruat...	ORPHA:180229
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperlipidemia, Flexion contracture, Elbow flexion contracture, Camptodactyly, Hyperc...	OMIM:248370
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Tachycardia	ORPHA:276608
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Lethargy, Hypertrophic cardiomyopathy	OMIM:613561
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Dehydration, Cardiomyopathy, Mitral regurgitation, Lethargy, Hypertroph...	OMIM:212140
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Hjv Or Hamp-Related Hemochromatosis	Lethargy, Dilated cardiomyopathy	ORPHA:79230
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop...	ORPHA:505248
Juvenile Dermatomyositis	Calcinosis, Myositis, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:93672
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Congenital Toxoplasmosis	Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp...	ORPHA:858
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Lethargy, Dehydration, Cardiomyopathy	ORPHA:79312
Evans Syndrome	Lethargy, Syncope, Epistaxis	ORPHA:1959
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia	OMIM:617913
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Irritability, Lethargy	ORPHA:101150
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites	OMIM:269920
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Hypertrophic cardiomyopathy	OMIM:618228
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Tachycardia, Syncope, Palpitations	ORPHA:324575
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypertrophic cardiomyopathy, R...	OMIM:276700
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Irritability, Cerebral edema, Lethargy	OMIM:237300
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Susac Syndrome	Lethargy, Apathy, Abnormal emotion	ORPHA:838
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Lethargy, Ascites	ORPHA:99828
Cyclic Vomiting Syndrome	Lethargy, Cardiomyopathy	OMIM:500007
Vitamin B12-Unresponsive Methylmalonic Acidemia	Lethargy, Dehydration, Cardiomyopathy	ORPHA:27
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Tachycardia, Lethargy	OMIM:229700
Leukoencephalopathy With Vanishing White Matter 1	Emotional lability, Lethargy	OMIM:603896
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Typhoid	Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Lethargy, Arrhythmia	ORPHA:99745
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Epistaxis, Reduced platelet alpha granules, Increased mean platelet volu...	OMIM:314050
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant...	OMIM:619374
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Join...	OMIM:613679
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Hypertrophic cardiomyopathy	OMIM:619386
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula...	OMIM:261740
Mulibrey Nanism	Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astig...	OMIM:253250
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Peters anomaly, Atrial septal ...	OMIM:618652
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Abnormal cardiac ventricular function, Cardiomyopathy	ORPHA:2394
Laurence-Moon Syndrome	Hypoplasia of penis, Cataract, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, ...	ORPHA:2377
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Dilated cardiomyopathy	OMIM:618120
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Hyperphenylalaninemia, Bh4-Deficient, B	Irritability, Lethargy	OMIM:233910
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Slc35A1-Cdg	Prolonged bleeding time, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary...	ORPHA:238459
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, Hepatic fibrosis, Hypogonadism,...	OMIM:613313
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cataract, Ventricular septal defect, Cryptorchidism, Hypoplastic left heart,...	ORPHA:2772
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy, Pulmonary arterial hypertension	OMIM:619064
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Hyperlysinuria With Hyperammonemia	Lethargy	OMIM:238750
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop...	ORPHA:500095
Hermansky-Pudlak Syndrome 6	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E...	OMIM:614075
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro...	OMIM:222300
Necrotizing Enterocolitis	Shock, Edema, Bradycardia, Hypotension, Lethargy, Ascites	ORPHA:391673
Mitochondrial Complex I Deficiency, Nuclear Type 5	Irritability, Lethargy	OMIM:618226
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Rothmund-Thomson Syndrome Type 2	Long nose, Calcinosis	ORPHA:221016
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Emotional lability, Cerebral ischemia, Lethargy	ORPHA:927
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Irritability, Lethargy	OMIM:250620
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Splen...	ORPHA:93476
Infantile Liver Failure Syndrome 2	Lethargy, Cardiomyopathy	OMIM:616483
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ...	ORPHA:3092
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hepatocellular ca...	OMIM:232200
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria	OMIM:204000
3-Methylglutaconic Aciduria Type 4	Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Hypercalcemia, Infantile, 1	Lethargy, Dehydration	OMIM:143880
Refsum Disease, Classic	Cataract, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Retinal degeneration	OMIM:266500
Storage Pool Platelet Disease	Prolonged bleeding time, Decreased mean platelet volume	OMIM:185050
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Lethargy, Arrhythmia	OMIM:609015
Familial Thyroid Dyshormonogenesis	Facial edema, Lethargy, Bradycardia	ORPHA:95716
Cirrhosis, Familial	Lethargy, Ascites, Hypertension, Pulmonary arterial hypertension	OMIM:215600
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Ventricular septal ...	ORPHA:290
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Bradycardia, Lethargy, Pleural effusion, Ascites	OMIM:617397
Meningococcal Meningitis	Hypotension, Irritability, Shock, Lethargy	ORPHA:33475
Riboflavin Deficiency	Lethargy	OMIM:615026
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Optic atrophy, H...	ORPHA:791
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Rothmund-Thomson Syndrome	Calcinosis	ORPHA:2909
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I...	ORPHA:1473
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris	ORPHA:140905
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Macroorchidism, Ventricular septal defect	OMIM:309520
Rothmund-Thomson Syndrome Type 1	Calcinosis	ORPHA:221008
N-Acetylglutamate Synthase Deficiency	Lethargy	OMIM:237310
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard...	ORPHA:79328
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ...	ORPHA:324636
Lymphoid Interstitial Pneumonia	Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Dihydropyrimidinase Deficiency	Lethargy	OMIM:222748
Developmental And Epileptic Encephalopathy 41	Irritability, Lethargy	OMIM:617105
Wagr Syndrome	Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th...	ORPHA:893
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular tachycardia, Irritability, Cardiomyopathy, Hypotension, Lethargy, Arrhythmia	ORPHA:159
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythe...	ORPHA:116
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Irritability, Lethargy	ORPHA:2089
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ...	OMIM:603552
Propionic Acidemia	Lethargy, Cerebellar hemorrhage, Dehydration, Cardiomyopathy	OMIM:606054
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia	OMIM:300835
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Lethargy, Cerebellar hemorrhage, Dehydration, Cardiomyopathy	OMIM:251000
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Staphylococcal Necrotizing Pneumonia	Shock, Pleural empyema, Hypotension, Lethargy, Pleural effusion	ORPHA:36238
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Oligosacchariduria, Cardiomegaly	ORPHA:3137
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Isolated Atp Synthase Deficiency	Lethargy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Classic Galactosemia	Lethargy, Ascites, Depression	ORPHA:79239
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocar...	ORPHA:182050
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Cardiomyopathy, Impotence, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Irregular menstruation, Hepatocellular adenoma, E...	ORPHA:79259
Pontocerebellar Hypoplasia, Type 6	Lethargy	OMIM:611523
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Epistaxis, Impaired collagen-induced platelet aggregation	OMIM:619172
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Congestive heart failure, Cardiomyopathy, Joint swelling, Apathy, Arrhythmia...	ORPHA:465508
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Essential Thrombocythemia	Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, Myocardial infar...	ORPHA:3318
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes...	ORPHA:400
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ...	ORPHA:1067
Cholera	Tachycardia, Dehydration, Irritability, Hypovolemic shock, Hypotension, Lethargy	ORPHA:173
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Opa...	OMIM:252500
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy	OMIM:312170
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	OMIM:614299
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Hepatic Lipase Deficiency	Angina pectoris	OMIM:614025
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Arrhythmia	ORPHA:42
Reynolds Syndrome	Calcinosis, Hyperbilirubinemia	OMIM:613471
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Macroorchidism,...	ORPHA:90790
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Arrhythmia	OMIM:255120
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Pericardial effusion, Dilated cardiomyopathy, Ventricular tac...	ORPHA:26793
Trichinellosis	Edema, Facial edema, Periorbital edema, Retinal hemorrhage, Irritability, Apathy, Lethargy	ORPHA:863
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Irritability, Lethargy, Cerebral edema	OMIM:618321
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Sudden cardiac...	OMIM:201475
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def...	OMIM:300855
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy, Hypertrophic cardiomyopathy, Cardiac arrest	OMIM:604377
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Cerebral edema	OMIM:201450
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma	ORPHA:363741
Partial Atrioventricular Septal Defect	Atrial flutter, Angina pectoris, Transient ischemic attack, Heart murmur, Mitral regurgitation, S...	ORPHA:1330
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Renal Hypoplasia, Bilateral	Lethargy, Hypertension, Edema, Oligohydramnios	ORPHA:97362
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Combined Oxidative Phosphorylation Deficiency 11	Lethargy, Polyhydramnios, Cardiomyopathy	OMIM:614922
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Scrub Typhus	Myocarditis, Lethargy, Hypotension	ORPHA:83317
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy	OMIM:236270
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu...	ORPHA:744
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst...	ORPHA:488618
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prola...	OMIM:247410
Holocarboxylase Synthetase Deficiency	Irritability, Lethargy	ORPHA:79242
Galactokinase Deficiency	Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosp...	ORPHA:79237
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Abnormal heart morphology...	ORPHA:1867
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Emotional lability, Irritability, Lethargy	OMIM:608643
Maple Syrup Urine Disease	Lethargy, Cerebral edema	OMIM:248600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Pulmonary arterial hypertension	OMIM:614857
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,...	ORPHA:3097
Insulinoma	Lethargy, Palpitations	ORPHA:97279
Triploidy	Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Abnormality of the pancreas, Cryptorchi...	ORPHA:3376
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Galactosemia I	Hemolytic anemia, Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypo...	OMIM:230400
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Fish-Eye Disease	Angina pectoris	ORPHA:79292
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Lethargy	ORPHA:289916
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Ogden Syndrome	Lethargy, Arrhythmia, Cardiogenic shock	ORPHA:276432
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Cataract, Hypogonadism, Retinal coloboma	OMIM:601794
Isolated Thyroid-Stimulating Hormone Deficiency	Pituitary hypothyroidism, Prolonged neonatal jaundice, Macroorchidism, Thyroid hypoplasia, Increa...	ORPHA:90674
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic ki...	OMIM:614376
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Cataract, Corneal opacity, Ventricular septal defect,...	ORPHA:912
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Lethargy...	ORPHA:746
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero...	OMIM:203780
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Retinal detachment, Lens ...	OMIM:120330
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Renal insufficiency, Pancytopenia, Cataract, Hypoplasia of penis, Cryptorchidism, ...	ORPHA:85321
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Supraventricular tachycardia, Lethargy, Tricuspid regurgita...	ORPHA:97214
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Atrial fibrillation, Edema, Dilated cardiomyopathy, Depression, Brady...	ORPHA:254892
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Bradycardia, Edema	ORPHA:90673
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Apathy, Hypotension, Lethargy	ORPHA:20
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom...	OMIM:120200
Familial Hypoaldosteronism	Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension	ORPHA:427
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Astigmatism, Left ventricular hyp...	OMIM:617713
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:261534
Carney Complex	Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma...	ORPHA:1359
Methylcobalamin Deficiency Type Cble	Lethargy, Hypertension	ORPHA:2169
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Hsd10 Disease, Infantile Type	Cardiomegaly, Optic atrophy, Abnormality of the lower urinary tract, Hypertrophic cardiomyopathy,...	ORPHA:391428
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Coach Syndrome 1	Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen...	OMIM:216360
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy	OMIM:238970
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, As...	OMIM:616897
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Lethargy, Tachycardia	ORPHA:263455
Multiple Mitochondrial Dysfunctions Syndrome 1	Lethargy, Pulmonary arterial hypertension	OMIM:605711
Citrullinemia, Classic	Irritability, Cerebral edema, Lethargy	OMIM:215700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena...	ORPHA:1655
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Hypospadias, Supernumerary nipple,...	OMIM:312870
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Emotional lability, Irritability, Lethargy	OMIM:201100
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Glomerulopathy, Splenomegaly, Me...	ORPHA:91138
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Citrullinemia Type Ii	Irritability, Mania, Cerebral edema, Lethargy	ORPHA:247585
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Hypercalciuria, Developmental catarac...	OMIM:618440
Citrullinemia Type I	Lethargy	ORPHA:247525
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ...	ORPHA:228308
Posterior Urethral Valve	Lethargy, Hypertension, Oligohydramnios	ORPHA:93110
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Aspartylglucosaminuria	Hepatomegaly, Cataract, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism	OMIM:208400
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Mogs-Cdg	Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hep...	ORPHA:79330
Congenital Disorder Of Glycosylation, Type Ig	Lethargy, Polyhydramnios, Edema	OMIM:607143
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation	OMIM:618372
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Unilateral renal hypoplasia, Precocious puberty, Macroorchidism	OMIM:619950
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cataract, Cryptorchidism, Atrial septal defect, Patent foramen ovale, Hydronephrosis	OMIM:620327
Chops Syndrome	Cataract, Ventricular septal defect, Splenomegaly, Cryptorchidism, Optic atrophy, Anomalous pulmo...	OMIM:616368
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi...	OMIM:606003
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence	OMIM:268800
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy	OMIM:611590
Kapur-Toriello Syndrome	Cataract, Ventricular septal defect, Cryptorchidism, Hypoplastic labia majora, Abnormality of the...	OMIM:244300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy	OMIM:615838
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Lethargy, Ascites, Congestive heart failure, Polyhydramnios	OMIM:617156
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Abnormality of thrombocytes, Sudden cardiac death, ...	ORPHA:758
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Fucosidosis	Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria	ORPHA:349
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundice, Opacification of the corneal...	OMIM:251290
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Cardiomyopathy	OMIM:201470
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Irritability, Lethargy	OMIM:607483
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Hype...	OMIM:301500
Chédiak-Higashi Syndrome	Epistaxis, Increased proportion of CD25+ mast cells, Abnormal platelet function, Abnormality of n...	ORPHA:167
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros...	ORPHA:564
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Irritability, Cerebral edema, Lethargy	OMIM:311250
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Genetic Transient Congenital Hypothyroidism	Lethargy, Edema	ORPHA:226316
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:99330
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm...	ORPHA:2969
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili...	OMIM:609049
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Lethargy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Oligosacchariduria, Hepatosplenomegaly	ORPHA:309288
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Lethargy, Pleural effusion, Tricuspid regurgitation, Pulmonary arterial hypertension	OMIM:620233
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Holocarboxylase Synthetase Deficiency	Irritability, Lethargy	OMIM:253270
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Medulloblastoma	Irritability, Cerebellar hemorrhage, Lethargy	ORPHA:616
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi...	ORPHA:77259
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Aspartylglucosaminuria	Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism	ORPHA:93
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage	OMIM:177850
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Encephalitis Lethargica	Lethargy, Bradycardia	ORPHA:83600
Central Precocious Puberty In Male	Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males	ORPHA:649929
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Cataract, Premature ovarian insufficiency, Female h...	OMIM:240300
Resistance To Thyrotropin-Releasing Hormone Syndrome	Lethargy, Depression	ORPHA:99832
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Micro...	OMIM:610125
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Ebola Hemorrhagic Fever	Melena, Lethargy, Gastrointestinal hemorrhage	ORPHA:319218
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hypoparathyroidism, Cataract	OMIM:146200
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Bru...	OMIM:614866
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cataract, Septo-optic dysplasia, Cryptorchidism, Optic atrophy, Mic...	ORPHA:3301
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E...	ORPHA:549
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Tricuspid regurgitation	OMIM:620306
Argininosuccinic Aciduria	Irritability, Cerebral edema, Lethargy	OMIM:207900
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco...	OMIM:619259
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Methylmalonic Aciduria, Cblb Type	Lethargy, Dehydration	OMIM:251110
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation, Epistaxis	OMIM:614077
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Intermittent thrombocytopenia,...	OMIM:612541
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Transcobalamin Ii Deficiency	Irritability, Lethargy	OMIM:275350
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Apolipoprotein A-I Deficiency	Angina pectoris	ORPHA:425
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic...	OMIM:243605
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaundice, Cirrhosis, L...	ORPHA:57777
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Sitosterolemia 1	Giant platelets, Impaired platelet aggregation, Thrombocytopenia	OMIM:210250
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy...	OMIM:614921
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A...	OMIM:118450
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Noonan Syndrome	Arrhythmia, Abnormal platelet function	ORPHA:648
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Knobloch Syndrome	Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Macular degeneration, Vesicoureteral ...	ORPHA:1571
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im...	OMIM:608233
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati...	OMIM:610199
Mgat2-Cdg	Decreased circulating antibody level, Reflex asystolic syncope, Arrhythmia, Decreased circulating...	ORPHA:79329
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Aortic valve st...	OMIM:230800
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Stage 5 chr...	OMIM:308940
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Lethargy	ORPHA:79284
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy	OMIM:210200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Mucopolysaccharidosis Type 3	Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate...	ORPHA:581
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati...	ORPHA:264580
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetalis, Dehydration, Pu...	ORPHA:79282
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Corneal opacity	ORPHA:93474
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Aniridia-Absent Patella Syndrome	Aniridia, Cryptorchidism, Cataract	ORPHA:1069
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Methylmalonic Aciduria, Cbla Type	Lethargy, Dehydration	OMIM:251100
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag...	OMIM:249100
Amoebiasis Due To Free-Living Amoebae	Irritability, Arrhythmia, Cerebral edema, Lethargy	ORPHA:68
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly	OMIM:105210
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Late-Onset Isolated Acth Deficiency	Lethargy, Orthostatic hypotension, Hypotension	ORPHA:199299
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Hypospadias, Ovotestis, Hypo...	OMIM:309801
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro...	OMIM:268315
Cockayne Syndrome Type 3	Hepatomegaly, Renal insufficiency, Cataract, Neurogenic bladder, Hydroureter, Unilateral renal ag...	ORPHA:90324
Dent Disease	Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,...	ORPHA:1652
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Familial Mediterranean Fever	Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis...	ORPHA:342
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Tortuosity of ...	OMIM:230000
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Ascites, Anemia	OMIM:608013
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Isolated Complex I Deficiency	Lethargy, Hypertrophic cardiomyopathy	ORPHA:2609
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Thrombocytopenia, Cryp...	OMIM:620005
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Xerostomia	ORPHA:398079
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Hypovolemia, Dehydration, Capillary leak, Subconjunctival hemor...	ORPHA:99826
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro...	OMIM:619991
Mitochondrial Complex I Deficiency, Nuclear Type 1	Lethargy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Cerebral edema	OMIM:252010
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Lethargy	OMIM:277380
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:308552
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel...	ORPHA:324
Magel2-Related Prader-Willi-Like Syndrome	Lethargy, Xerostomia	ORPHA:398069
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ...	OMIM:219800
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Microphthalmia, Syndromic 2	Retinal detachment, Ventricular septal defect, Dextrocardia, Hypospadias, Septate vagina, Remnant...	OMIM:300166
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Abnormal T-wave, ST segment depression, Hypotension, Lethargy, Abnormal pu...	ORPHA:466650
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Anemia, Developmental ca...	OMIM:620185
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy	OMIM:210210
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,...	ORPHA:904
Pearson Marrow-Pancreas Syndrome	Lethargy, Hydrops fetalis, Dehydration	OMIM:557000
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepa...	OMIM:260920
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Semilobar Holoprosencephaly	Depression, Abnormal heart rate variability, Irritability, Apathy, Lethargy	ORPHA:220386
Alobar Holoprosencephaly	Depression, Abnormal heart rate variability, Irritability, Apathy, Lethargy	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Abnormal heart rate variability, Irritability, Apathy, Lethargy	ORPHA:93926
Lobar Holoprosencephaly	Depression, Abnormal heart rate variability, Irritability, Apathy, Lethargy	ORPHA:93924
Biotinidase Deficiency	Lethargy	OMIM:253260
Hurler Syndrome	Cardiomyopathy, Hypertension, Angina pectoris	ORPHA:93473
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Facial edema, Lethargy, Bradycardia	ORPHA:226307
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Hypospadias, Ventricular septal defect, Sclerocornea, Anterior pit...	OMIM:206900
Bannayan-Riley-Ruvalcaba Syndrome	Intracranial hemorrhage, Angina pectoris, Telangiectasia	ORPHA:109
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Low-output congestive heart failure, Cardiomyopathy, Palpitations, Arrhythmia	ORPHA:565612
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho...	OMIM:611881
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased fertility in females, Spleno...	OMIM:269700
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction	OMIM:213700
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi...	ORPHA:30391
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lethargy	ORPHA:395
Bohring-Opitz Syndrome	Retinal atrophy, Nephroblastoma, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology,...	ORPHA:97297
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy	OMIM:615751
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Cryptorchidism, Urethral s...	OMIM:305000
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Hypersplenism, Thrombocytopenia, L...	ORPHA:1304
Multiple Endocrine Neoplasia Type 1	Hematemesis, Shortened QT interval, Dehydration, Depression, Melena, Hypertension, Lethargy	ORPHA:652
Gaisböck Syndrome	Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood pressure, Hypertension	ORPHA:90041
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation, Cardiomegaly, Acanthocytosis,...	ORPHA:14
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Developmental glaucoma, Mitral valve p...	OMIM:245600
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Bradycardia	OMIM:218700
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Hydranencephaly	Lethargy, Antenatal intracerebral hemorrhage	ORPHA:2177
Dysbetalipoproteinemia	Angina pectoris	ORPHA:412
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy	OMIM:277400
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Decreased fertility in females, Splenomegaly, Labial hypertroph...	OMIM:608594
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Atrial septal defe...	ORPHA:857
Biotinidase Deficiency	Lethargy	ORPHA:79241
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Developmental glaucoma, Hepatosplenomegaly, C...	ORPHA:51
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Corneal scarring, Conjunctivit...	OMIM:263700
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Yunis-Varon Syndrome	Cataract, Ventricular septal defect, Hypospadias, Sclerocornea, Cardiomegaly, Cryptorchidism, Ren...	ORPHA:3472
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Tetraamelia Syndrome 1	Cataract, Renal agenesis, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, ...	OMIM:273395
Hereditary Fructose Intolerance	Lethargy	ORPHA:469
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus...	ORPHA:2729
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Parathyroid agenesis, Sclerocorn...	OMIM:188400
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Glycine Encephalopathy	Lethargy	ORPHA:407
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Irregular m...	OMIM:256040
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Lethargy	OMIM:229600
Kufor-Rakeb Syndrome	Bradykinesia, Lethargy, Apathy	ORPHA:306674
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Hypertension, Budd-Chiari syndrome, Lethargy	ORPHA:447
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Lethargy	ORPHA:415
Diamond-Blackfan Anemia	Lethargy, Nonimmune hydrops fetalis	ORPHA:124
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Cardiomegaly	ORPHA:79280
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va...	OMIM:617088
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Abnormality iris morphology, 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, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:365
Glycerol Kinase Deficiency	Lethargy	OMIM:307030
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Retinal hemorrhag...	ORPHA:51608
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric...	ORPHA:391665
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Lysinuric Protein Intolerance	Lethargy	ORPHA:470
Pineoblastoma	Lethargy	ORPHA:251909
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired neutrophil chemotaxis...	ORPHA:2968
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma, Anterior pituitary agenesis, Single ventr...	OMIM:157170
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Pmm2-Cdg	Pericarditis, Angina pectoris, Intracranial hemorrhage, Impaired neutrophil chemotaxis, Hypertrop...	ORPHA:79318
Hereditary Arterial And Articular Multiple Calcification Syndrome	Arterial occlusion, Abnormal cardiovascular system physiology	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.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
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

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

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

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data