Genes Phenotypes Help, News, Blog

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

Gene: Entr1 MGI:1915362

Gene Summary

Name:

endosome associated trafficking regulator 1

Synonyms:

C330016H24Rik, C630038K21Rik, Sdccag3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal heart morphology	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal seminal vesicle morphology	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged urinary bladder	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal urinary bladder morphology	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating calcium level	Entr1^em1(IMPC)Mbp	HOM	Early adult	6.17×10^-05
abnormal liver morphology	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00
thrombocytopenia	Entr1^em1(IMPC)Mbp	HOM	Early adult	6.00×10^-05
small seminal vesicle	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00
small testis	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged ovary	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Entr1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating total protein level	Entr1^em1(IMPC)Mbp	HOM	Early adult	2.03×10^-05
increased circulating HDL cholesterol level	Entr1^em1(IMPC)Mbp	HOM	Early adult	4.24×10^-06
abnormal ovary morphology	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00
increased circulating cholesterol level	Entr1^em1(IMPC)Mbp	HOM	Early adult	2.58×10^-07
enlarged heart	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal testis morphology	Entr1^em1(IMPC)Mbp	HOM	Late adult	0.00

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

9 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View images

Human diseases caused by Entr1 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 Entr1 (0 diseases)
Human diseases predicted to be associated with Entr1 (931 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Entr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Adamantinoma	Hypercalcemia	ORPHA:55881
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Polycystic Ovary Syndrome 1	Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries	OMIM:184700
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,...	ORPHA:158048
Hepatic Adenomas, Familial	Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma	OMIM:142330
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia	OMIM:615863
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Ethanolaminosis	Cardiomegaly	OMIM:227150
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Testicular Anomalies With Or Without Congenital Heart Disease	Abnormality of thyroid physiology, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphall...	OMIM:615542
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Cholestasis, Progressive Familial Intrahepatic, 10	Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, Conjugated hype...	OMIM:619868
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ...	ORPHA:90041
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD...	OMIM:615703
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Polycystic ovaries, Dilated cardiomyopathy, Hypergonadotropic hypogonadism	ORPHA:2229
Multiple Myeloma	Anemia, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration	ORPHA:29073
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia	OMIM:207731
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia	OMIM:614025
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Hypercholesterolemia	OMIM:612526
Malaria	Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase...	OMIM:267700
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea	ORPHA:397685
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce...	OMIM:619130
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he...	OMIM:210250
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, In...	OMIM:607616
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Increased C-peptide level, Hypercholesterolemia	OMIM:620211
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy...	ORPHA:91
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Enlarged polycystic ovaries, Abnormality of the ureter, Biliary t...	ORPHA:2869
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ...	OMIM:608709
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hyperinsulinemia, Polycystic ovaries, Diabetes mellitus, Hepatic stea...	ORPHA:79084
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Rabson-Mendenhall Syndrome	Atrial septal defect, Clitoral hypertrophy, Increased serum testosterone level, Long penis, Fasti...	ORPHA:769
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly, Hyperuricemia	OMIM:306000
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Elevated circulating alpha-fetoprotein c...	OMIM:620481
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Estrogen Resistance Syndrome	Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati...	ORPHA:785
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva...	OMIM:616828
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Rudiger Syndrome	Ureterovesical stenosis, Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat...	OMIM:228300
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Hyperinsulinemia, Increased serum testosterone level, Fasting...	ORPHA:2298
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol...	OMIM:207750
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Opitz Gbbb Syndrome	Atrial septal defect, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Bifid scrotum, Bi...	ORPHA:2745
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Increased circula...	OMIM:603552
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia, Lymphopenia	ORPHA:1116
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Immunodeficiency 43	B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin...	OMIM:241600
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly	ORPHA:75234
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Hepatic fibrosis, Olig...	ORPHA:280356
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi...	OMIM:603553
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia	ORPHA:86816
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Ovarian Hyperstimulation Syndrome	Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria...	ORPHA:64739
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Xp22.3 Microdeletion Syndrome	Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism	ORPHA:1643
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Abnormality of thrombocytes, Splenomegaly	ORPHA:172
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegal...	OMIM:613101
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Leprechaunism	Enlarged kidney, Clitoral hypertrophy, Hepatomegaly, Hyperinsulinemia, Long penis, Hypercalciuria...	ORPHA:508
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Severe B lymphocytopenia, T...	OMIM:603554
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea,...	ORPHA:2795
Alpha-Heavy Chain Disease	Hypocalcemia, Anemia, Splenomegaly	ORPHA:100025
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:400
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly	OMIM:619658
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia	OMIM:256300
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the liver, Abnormality of ...	ORPHA:543
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonadal calcification	ORPHA:314473
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Dengue Fever	Thrombocytopenia, Hypoproteinemia, Leukopenia	ORPHA:99828
Primary Intestinal Lymphangiectasia	Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop...	ORPHA:90362
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size...	ORPHA:3085
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis	OMIM:226300
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr...	ORPHA:247585
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia	OMIM:133180
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia	OMIM:124900
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ova...	ORPHA:79085
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen...	OMIM:615517
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Cog4-Cdg	Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly	ORPHA:263501
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl...	OMIM:173590
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ...	OMIM:194072
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa...	OMIM:605814
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh...	OMIM:618841
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventricular hypertrop...	ORPHA:335
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Increased LDL...	OMIM:278000
Hypophosphatasia, Infantile	Anemia, Hypercalcemia, Elevated plasma pyrophosphate	OMIM:241500
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Aromatase Deficiency	Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Autoinflammation With Infantile Enterocolitis	Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Thrombocytopenia, Sp...	OMIM:616050
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, D...	ORPHA:3109
Hyperparathyroidism, Neonatal Severe	Calcinosis, Anemia, Hypercalcemia, Splenomegaly, Hypophosphatemia	OMIM:239200
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, ...	ORPHA:435651
Bleeding Disorder, Platelet-Type, 22	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:618462
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Thrombocytopenia, Monocytosis, Anemia, Neutropenia	OMIM:620534
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con...	ORPHA:158057
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Bangstad Syndrome	Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Type I diabetes mellitus, Primary g...	ORPHA:1227
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Chronic hepatic failure,...	ORPHA:465508
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co...	OMIM:613011
Transaldolase Deficiency	Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concentration, Th...	ORPHA:101028
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Ataxia-Telangiectasia	Delayed puberty, Elevated circulating hepatic transaminase concentration, Abnormal testis morphol...	ORPHA:100
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Cirrhosis, Hepatomegaly, Precocious puberty in females, Hyperinsulinemia, H...	ORPHA:528
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia, Episodic hemolytic anemia	ORPHA:251004
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,...	OMIM:612885
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia, Increase...	OMIM:620603
Thymic Neuroendocrine Tumor	Hypercalcemia, Increased circulating cortisol level	ORPHA:97289
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome...	OMIM:238600
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia	OMIM:615285
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia, Splenomegaly	OMIM:618440
Premature Ovarian Failure 5	Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar...	OMIM:611548
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Leptospirosis	Thrombocytopenia, Hyperproteinemia	ORPHA:509
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis	ORPHA:54057
Attrv30M Amyloidosis	Cardiomyopathy, Impotence, Abnormal renal physiology, Cardiomegaly, Nephropathy	ORPHA:85447
Distal Deletion 10P	Polycystic ovaries, Cryptorchidism, Hypoplasia of penis	ORPHA:1580
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Hypertrophic card...	ORPHA:79083
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia, Elevated circulating creatine kinase concentration	OMIM:614727
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Decreased circulating cortisol...	ORPHA:199299
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Immunodeficiency 32B	Anemia, Monocytopenia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia...	ORPHA:26793
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia	OMIM:211900
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly	ORPHA:79237
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto...	OMIM:308240
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
46,Xy Sex Reversal 10	Gonadal dysgenesis, Perineal hypospadias, Hypospadias, Ovotestis, Bifid scrotum, Decreased testic...	OMIM:616425
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D...	ORPHA:90795
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc...	OMIM:246700
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Type II diabetes mellitus, Primar...	OMIM:604367
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased...	ORPHA:435660
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Ovarian Dysgenesis 10	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f...	OMIM:619834
Preeclampsia	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ...	ORPHA:275555
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated circulating hepatic transaminase concentration, Secondary amenorrhea, Hypergonadotropic ...	OMIM:268020
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Beta-Thalassemia	Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Mic...	ORPHA:848
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia,...	OMIM:613845
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto...	ORPHA:167
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly	ORPHA:615
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Leishmaniasis	Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia,...	ORPHA:507
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Frasier Syndrome	Ambiguous genitalia, male, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Nephro...	ORPHA:347
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Iron deficiency anemia, Hypophosphatemia	ORPHA:89937
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of...	ORPHA:3130
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase con...	ORPHA:264580
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Ovarian cyst, Abnormal endocrine physiology, Increased circu...	ORPHA:562
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:95409
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Temple Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:616222
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrophic cardiomyopathy, Dysmenorrhea, Sple...	ORPHA:2348
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612924
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst, Thyroid adenoma, Renal cyst	OMIM:617100
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Donohue Syndrome	Clitoral hypertrophy, Hyperinsulinemia, Long penis, Cholestasis, Precocious puberty, Ovarian cyst...	OMIM:246200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612926
Macrophage Activation Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentra...	ORPHA:158061
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Decreased carnitine level ...	OMIM:212140
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia	ORPHA:27
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:615812
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries, Ventricular septal defect, Abnormality of the ureter	ORPHA:1770
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ...	OMIM:619662
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, ...	OMIM:619802
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Bicuspid aortic valve, Hypospadias, Az...	ORPHA:1772
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93324
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl...	OMIM:619203
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina...	ORPHA:231111
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre...	OMIM:615363
Congenital Toxoplasmosis	Cardiomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly	ORPHA:858
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Splenomegaly	OMIM:235255
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:277460
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Cowden Syndrome	Neoplasm of the thyroid gland, Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic o...	ORPHA:201
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u...	ORPHA:432
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	OMIM:182290
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Wolfram Syndrome 1	Hydroureter, Diabetes insipidus, Neurogenic bladder, Cardiomyopathy, Hypothyroidism, Hydronephros...	OMIM:222300
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	ORPHA:209902
Bernard-Soulier Syndrome	Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag...	OMIM:231200
Premature Ovarian Failure 8	Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm...	OMIM:615723
Autoimmune Hypoparathyroidism	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:36913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva...	OMIM:612925
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Anemia, Hypoproteinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Spleno...	OMIM:615895
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Relapsing Fever	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili...	ORPHA:91547
Johanson-Blizzard Syndrome	Hypoproteinemia, Anemia	ORPHA:2315
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:269920
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Cardiomyopathy, Proteinuria, Polyc...	ORPHA:79086
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
X-Linked Agammaglobulinemia	Hypocalcemia, Thrombocytopenia, Anemia, Neutropenia	ORPHA:47
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia, Hepatosplenomegaly, Splenomegaly	ORPHA:1655
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec...	ORPHA:860
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Premature Ovarian Failure 21	Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho...	OMIM:620311
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Addison Disease	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:85138
Systemic Lupus Erythematosus 17	Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia	OMIM:301080
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:79240
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Abnormality of the ureter, ...	OMIM:175200
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary...	ORPHA:247768
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Hypoalbuminemia, Thrombocytopeni...	OMIM:617021
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Testicular atrophy	OMIM:613987
Aicardi-Goutieres Syndrome 6	Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia	OMIM:175500
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Anemia	OMIM:244460
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati...	OMIM:615724
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Hyponatremia, ...	ORPHA:247353
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Fanconi Anemia, Complementation Group T	Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia	OMIM:616435
Albers-Schönberg Osteopetrosis	Hypocalcemia, Abnormal leukocyte morphology, Anemia	ORPHA:53
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest...	ORPHA:412
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Reduced haptoglobin level, Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele...	OMIM:301110
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:601678
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis...	OMIM:610475
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Pheochromocytoma	Hypercalcemia	OMIM:171300
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Renal cortical cysts, Vesi...	OMIM:130650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi...	OMIM:235400
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Splenic infarction, Priapism, Splenomegaly, Ca...	OMIM:603903
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Thrombocytopenia, Leukocytosis	ORPHA:83601
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat...	OMIM:616959
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Elevated circulating propionylc...	OMIM:614857
Osteopetrosis, Autosomal Recessive 1	Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly	OMIM:259700
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P...	OMIM:233420
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thrombocytopenia, Decre...	OMIM:618048
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T...	OMIM:300835
Lysinuric Protein Intolerance	Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev...	ORPHA:470
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy...	ORPHA:66628
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Clitoral hypertrophy, Cirrhosis, Elevated circulating hepatic transaminase c...	OMIM:269700
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Multiple Endocrine Neoplasia, Type I	Hypercalcemia, Increased circulating cortisol level	OMIM:131100
Neuraminidase Deficiency	Hepatomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Pro...	OMIM:256550
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatom...	OMIM:608594
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt...	OMIM:251110
Slc35A1-Cdg	Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia	ORPHA:238459
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94089
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Hypertr...	OMIM:201475
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s...	ORPHA:325124
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal...	ORPHA:31824
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia, Increased circulating cortisol level	ORPHA:249
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concen...	ORPHA:42
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany	OMIM:612462
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Biliary trac...	OMIM:209900
Cowden Syndrome 6	Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, ...	OMIM:615109
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Le...	ORPHA:94093
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Cowden Syndrome 5	Thyroiditis, Hypothyroidism, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, Hydrocele te...	OMIM:615108
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ren...	OMIM:255120
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia	ORPHA:2457
Mulibrey Nanism	Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone secretion, Hypothyr...	ORPHA:79330
Congenital Factor Vii Deficiency	Menorrhagia, Ovarian cyst	ORPHA:327
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hepatosple...	OMIM:619644
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Vipoma	Normochromic anemia, Hypercalcemia, Hypokalemia, Increased circulating cortisol level	ORPHA:97282
Propionic Acidemia	Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, Neutropenia	OMIM:606054
Smith-Magenis Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:819
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis	ORPHA:90065
Immunodeficiency 47	Normocytic anemia, Decreased circulating copper concentration, Accessory spleen, Leukopenia, Sple...	OMIM:300972
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia	ORPHA:3240
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect...	OMIM:616897
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrial septal defect, Premature thelarche, Nodular goiter, Type I diabetes mellitus, Mitral valve...	ORPHA:371428
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia	OMIM:608104
Somatostatinoma	Hypochromic microcytic anemia, Steatorrhea, Hypercalcemia, Increased circulating cortisol level	ORPHA:97283
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Intrahepatic cholestasis, Elevated...	OMIM:614921
Aicardi-Goutieres Syndrome 4	Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia	OMIM:610333
Fetal Cytomegalovirus Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia	ORPHA:294
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Glucagonoma	Steatorrhea, Normochromic anemia, Hypercalcemia, Acanthocytosis, Increased circulating cortisol l...	ORPHA:97280
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Hepatoportal Sclerosis	Anemia, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Hyperspl...	ORPHA:64743
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anem...	OMIM:274150
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Anemia, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Bone Marrow Failure Syndrome 4	Thrombocytopenia, Anemia, Leukopenia	OMIM:618116
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytopeni...	ORPHA:292
Cowden Syndrome 1	Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Goiter, ...	OMIM:158350
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis	ORPHA:90060
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Griscelli Syndrome	Abnormal circulating lipid concentration, Thrombocytopenia, Leukopenia, Splenomegaly, Abnormality...	ORPHA:381
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Nephrotic ...	OMIM:617713
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, ...	ORPHA:540
Osteopetrosis, Autosomal Recessive 5	Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos...	OMIM:259720
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Thrombocytopenia, Hyperglycinemia, Neutropenia	OMIM:251000
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-nega...	ORPHA:37042
Babesiosis	Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia	ORPHA:108
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Long-Olsen-Distelmaier Syndrome	Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva...	OMIM:620609
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	ORPHA:79242
Primary Myelofibrosis	Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg...	ORPHA:824
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Diabetes insipidus, Enlarged ...	ORPHA:744
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Tafro Syndrome	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp...	ORPHA:457077
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy	OMIM:614702
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia	OMIM:603585
Hypoplasminogenemia	Cervicitis, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary	ORPHA:722
Gracile Bone Dysplasia	Hypocalcemia, Hypoplastic spleen, Asplenia	OMIM:602361
Congenital Disorder Of Glycosylation, Type Iiaa	Hyperammonemia, Hypercholesterolemia	OMIM:620454
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Azoospermia, Pancreatic hypo...	OMIM:602782
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bon...	ORPHA:275761
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria...	ORPHA:1359
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an...	OMIM:603909
Acyl-Coa Dehydrogenase 9 Deficiency	Decreased circulating carnitine concentration, Elevated creatine kinase after exercise, Hyperammo...	ORPHA:99901
Gaucher Disease, Type Iii	Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent...	ORPHA:36234
Timothy Syndrome	Hypocalcemia	OMIM:601005
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Isolated Agammaglobulinemia	Thrombocytopenia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Anemia	ORPHA:229717
Ppoma	Hypercalcemia, Increased circulating cortisol level	ORPHA:97278
Avian Influenza	Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce...	ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Hypomagnese...	OMIM:619743
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Anemia	OMIM:127000
Vexas Syndrome	Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia	OMIM:301054
Celiac Disease, Susceptibility To, 1	Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Thrombocytosis	OMIM:212750
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, ...	OMIM:251100
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Hypothyroidism, Cardiomegaly	ORPHA:349
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th...	OMIM:614527
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla...	ORPHA:2232
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Isovaleric Acidemia	Thrombocytopenia, Leukopenia, Pancytopenia	OMIM:243500
Amed Syndrome, Digenic	Anemia, Thrombocytopenia, Leukopenia, Acute myeloid leukemia	OMIM:619151
Atelis Syndrome 1	Thrombocytopenia, Leukopenia, Anemia	OMIM:620184
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Specific Granule Deficiency 2	Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia	OMIM:617475
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis	ORPHA:276280
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Anemia, Hyperhomocystinemia, Pancytopenia, Megaloblastic anemia, Cystathi...	OMIM:277380
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i...	OMIM:187900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Pancreatitis, Secondary amenorrhea, Decreased serum leptin, Hypertrophic cardiomyop...	ORPHA:280365
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa...	OMIM:153670
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Hypocalcemia, Leukocytosis, Splenomegaly, Hypophosphatemia, Hypochromic an...	ORPHA:289157
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, Neutropenia	OMIM:150550
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Anemia, Pancytopenia, Splenic infarction, Splenic ruptur...	ORPHA:77259
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Attrv122I Amyloidosis	Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos...	ORPHA:85451
Liver Disease, Severe Congenital	Anemia, Hypocalcemia, Hyperbilirubinemia, Lymphocytosis, Hypoproteinemia, Hyperalaninemia, Hypona...	OMIM:619991
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic...	ORPHA:228308
Osteopetrosis, Autosomal Recessive 4	Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis	OMIM:611490
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, M...	OMIM:608836
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis	ORPHA:99931
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlargement, Left ventri...	ORPHA:57777
Zollinger-Ellison Syndrome	Hypercalcemia, Increased circulating cortisol level	ORPHA:913
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia	ORPHA:90674
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Splenomegaly, Conjugated hype...	ORPHA:186
Myh9-Related Disease	Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc...	ORPHA:182050
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph...	OMIM:169400
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Grfoma	Hypercalcemia, Increased circulating cortisol level	ORPHA:97261
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level	OMIM:618838
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Luscan-Lumish Syndrome	Polycystic ovaries, Irregular menstruation	OMIM:616831
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,...	ORPHA:98850
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Type II diabetes mellitus, Labial pseudohyper...	OMIM:151660
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Overlap Myositis	Abnormal circulating lipid concentration, Thrombocytopenia, Leukopenia, Elevated circulating crea...	ORPHA:206572
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma	ORPHA:454840
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Anemia	ORPHA:79325
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Increased circulating cortisol level	ORPHA:276152
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Leukocyt...	OMIM:610377
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Mirage Syndrome	Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Lymphopenia	OMIM:617053
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Thrombocytopenia, Elevated circulating creatine kinase concentration, Pancytopenia	OMIM:614576
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Hemolytic anemia	OMIM:152700
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Elevated circulating creatine kinase concentration, Normochromic anemia	OMIM:618775
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem...	OMIM:304790
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb...	ORPHA:90038
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto...	ORPHA:3226
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Bardet-Biedl Syndrome	Elevated circulating hepatic transaminase concentration, Hypoplasia of penis, Hypoplasia of the o...	ORPHA:110
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Impotence, Increased urinary N-acetylglucosamine-rich oligosa...	OMIM:268800
Tangier Disease	Hypertriglyceridemia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hypocholesterolemia	ORPHA:31150
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Cryptorchidism, Hepatomegaly	OMIM:618143
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Congenital hydrocele, Parotitis, Cholestasis, Elevated circulating alanin...	OMIM:620376
Neonatal Lupus Erythematosus	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia	ORPHA:398124
Lesch-Nyhan Syndrome	Testicular atrophy, Nephrocalcinosis, Hyperuricosuria, Nephrolithiasis	OMIM:300322
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	ORPHA:158029
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Irregular m...	ORPHA:79259
Hsd10 Disease, Infantile Type	Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy	ORPHA:391428
Congenital Rubella Syndrome	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:290
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega...	ORPHA:100026
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Sarcoidosis	Anemia, Increased T cell count, Leukopenia, Hypercalcemia, Thrombocytopenia, Eosinophilia, Hemoly...	ORPHA:797
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Hypocalcemic tetany, Hypomagnesemia, Hyperaldosteronism	ORPHA:73224
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni...	ORPHA:101096
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Pearson Syndrome	Steatorrhea, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, H...	ORPHA:699
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Schimke Immuno-Osseous Dysplasia	Anemia, Abnormal proportion of naive CD4 T cells, Hyperlipidemia, Decreased proportion of naive C...	ORPHA:1830
Tularemia	Thrombocytopenia, Anemia, Leukocytosis	ORPHA:3392
Fetal Gaucher Disease	Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia	ORPHA:85212
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Combined Oxidative Phosphorylation Deficiency 14	Elevated hepatic iron concentration, Thrombocytopenia, Anemia	OMIM:614946
Necrotizing Enterocolitis	Hyponatremia, Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Leopard Syndrome 1	Delayed puberty, Unilateral renal agenesis, Hypospadias, Hypoplasia of the ovary, Delayed menarch...	OMIM:151100
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Elevated circulating alpha-fetoprotein concen...	OMIM:251880
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly	OMIM:617913
Prader-Willi Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:176270
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect	ORPHA:137675
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Abnormal heart morphology, Ovarian cyst, Proteinuria, Hepatic cysts,...	OMIM:311200
Short Syndrome	Ovarian cyst, Insulin-resistant diabetes mellitus	OMIM:269880
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Thrombocytopenia, Leukopenia, Elevated circulating creatine kinase concentration	OMIM:301056
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen...	OMIM:301078
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Primary hypercortisolism, Increased circulating cortisol level	ORPHA:652
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Hypomagnesemia	ORPHA:428
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Normocytic anemia, Anemia, Increased serum bile acid concentration,...	ORPHA:811
Mucopolysaccharidosis-Plus Syndrome	Anemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Neutropenia	OMIM:617303
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Refractory sideroblastic anemia, Anemia, Pancytopenia, Hyperbilirubinemia, Reticuloc...	OMIM:557000
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Portal Hypertension, Noncirrhotic, 2	Thrombocytopenia, Splenomegaly	OMIM:619463
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Hypercholesterolemia	ORPHA:363618
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ...	OMIM:201750
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79444
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy, Impotence	OMIM:105210
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati...	ORPHA:572333
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia, Leukopenia, Sp...	OMIM:222700
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia	ORPHA:163979
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia, Conjugated hyperbilirubinemia	OMIM:208085
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron...	ORPHA:98849
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo...	ORPHA:308552
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal...	ORPHA:116
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricula...	OMIM:300967
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or act...	ORPHA:447
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Hyperaldosteronism, Hyperc...	ORPHA:534
Osteopetrosis With Renal Tubular Acidosis	Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Elliptocy...	ORPHA:2785
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Abnormality of the adrenal glands	ORPHA:2176
Castleman Disease	Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration, Decreased mean c...	ORPHA:160
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Sepsis In Premature Infants	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Sp...	ORPHA:90051
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:466650
Acute Promyelocytic Leukemia	Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Decreased...	OMIM:617718
Williams Syndrome	Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con...	ORPHA:904
Shwachman-Diamond Syndrome 1	Steatorrhea, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocy...	OMIM:260400
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Abnormal platelet function, Hypocalcemic tetany,...	ORPHA:79443
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,...	OMIM:614700
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Hereditary Folate Malabsorption	Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Transaldolase Deficiency	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:606003
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic anemia	ORPHA:544482
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation	OMIM:614074
Neuroblastoma	Thrombocytopenia, Increased circulating ferritin concentration, Anemia	ORPHA:635
Gaucher Disease, Type I	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Boutonneuse Fever	Thrombocytopenia, Leukopenia	ORPHA:83313
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, High nonceruloplasmin-bound serum copper	ORPHA:457351
Prolidase Deficiency	Thrombocytopenia, Anemia, Splenomegaly	OMIM:170100
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia	OMIM:620475
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Digeorge Syndrome	Decreased circulating parathyroid hormone level, Unilateral renal agenesis, Cholelithiasis, Trunc...	OMIM:188400
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:881
Alg12-Cdg	B lymphocytopenia, Hyponatremia, Thrombocytopenia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Lymphopenia	OMIM:620365
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia	ORPHA:903
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal activity, Th...	OMIM:214500
Felty Syndrome	Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:47612
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Shigellosis	Splenic abscess, Leukocytosis, Hyponatremia, Thrombocytopenia, Microangiopathic hemolytic anemia,...	ORPHA:810
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Perimembran...	OMIM:300855
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia	OMIM:242900
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:613989
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto...	ORPHA:79124
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp...	OMIM:608233
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatic failure	OMIM:608013
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly, Cr...	OMIM:620371
Cyclic Neutropenia	Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia, Lymphopenia	ORPHA:2686
Cartilage-Hair Hypoplasia	Hypocalcemia, Anemia, Neutropenia	ORPHA:175
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, U...	ORPHA:79277
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concen...	OMIM:619573
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Thrombocytopenia, Leukopenia...	ORPHA:319213
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613990
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anemia, Pancytopenia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia	OMIM:613658
Lig4 Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Pancytopenia	OMIM:606593
Wilson Disease	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:905
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,...	OMIM:261740
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Cystathioninemia, Hypomethioni...	OMIM:277400
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:600901
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Leukopenia, Thrombocytopenia, Lymphopenia, Neutropenia	ORPHA:508542
Shwachman-Diamond Syndrome 2	Normocytic anemia, Steatorrhea, Thrombocytopenia, Neutropenia	OMIM:617941
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycinemia, Thrombocytopenia	OMIM:620423
Acute Radiation Syndrome	Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Thrombocytopenia 1	Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia	OMIM:313900
Pseudo-Torch Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:251290
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,...	ORPHA:3384
Gitelman Syndrome	Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Primary hyperaldosteronism, H...	ORPHA:358
Pediatric Systemic Lupus Erythematosus	Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia	ORPHA:93552
Combined Immunodeficiency Due To Crac Channel Dysfunction	Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Abnormal cardiac septum morpho...	ORPHA:97297
Immunodeficiency 40	Thrombocytopenia, T lymphocytopenia	OMIM:616433
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227650
Glycogen Storage Disease Ii	Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly	OMIM:232300
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy	ORPHA:3063
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Elevated circulating palmitole...	ORPHA:79282
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly	ORPHA:525731
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Juvenile Polyposis Syndrome	Hypoproteinemia, Anemia	ORPHA:2929
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula...	OMIM:309000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Leukopenia, Splenomegaly, Hepatosplenomeg...	OMIM:612541
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Wilson Disease	Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro...	OMIM:277900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Fucosidosis	Hepatomegaly, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosacchariduria	OMIM:230000
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypothyroidism,...	ORPHA:14
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Marburg Hemorrhagic Fever	Hypokalemia, Neutrophilia in presence of infection, Hyperamylasemia, Abnormal lymphocyte morpholo...	ORPHA:99826
Williams-Beuren Syndrome	Hypercalcemia	OMIM:194050
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Blue Rubber Bleb Nevus	Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Splenomegaly, Anemia, Hypophosphatemia	ORPHA:667
Caroli Syndrome	Hyperbilirubinemia, Leukocytosis, Thrombocytopenia, Leukopenia, Conjugated hyperbilirubinemia, Hy...	ORPHA:480520
Hennekam Syndrome	Hypocalcemia, Splenomegaly, Lymphopenia	ORPHA:2136
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Thrombocytopenia, Splenomegaly, Reduced erythroc...	OMIM:263700
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Thrombocytopenia, Pancytopenia	OMIM:224230
Ebola Hemorrhagic Fever	Thrombocytopenia, Leukopenia, Lymphopenia	ORPHA:319218
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hypothyroid...	ORPHA:51
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
3-Methylglutaconic Aciduria, Type Viib	Thrombocytopenia, Leukopenia, Neutropenia	OMIM:616271
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Thrombocytopenia, Leukopenia, Hepatosplenomegaly, Hypoalbuminemia	ORPHA:505248
Alagille Syndrome 1	Hypertriglyceridemia, Hypercholesterolemia	OMIM:118450
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Mucopolysacchariduria, Abnormal mitral valve morp...	ORPHA:581
Steinert Myotonic Dystrophy	Decreased fertility, Decreased response to growth hormone stimulation test, Male hypogonadism, El...	ORPHA:273
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia	OMIM:308230
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic anemia, Hypoc...	ORPHA:83471
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Yunis-Varon Syndrome	Clitoral hypertrophy, Hypospadias, Renal artery stenosis, Ventricular septal defect, Cardiomyopat...	ORPHA:3472
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Anemia, Hypocalcemic tetany	ORPHA:93325
Sotos Syndrome	Acute lymphoblastic leukemia, Hypercalcemia	ORPHA:821
Aicardi-Goutieres Syndrome 1	Thrombocytopenia, Splenomegaly	OMIM:225750
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227645
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy, Hepatocellular necrosis,...	OMIM:618278
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Immunodeficiency 22	Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia	OMIM:615758
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of...	ORPHA:906
Kasabach-Merritt Phenomenon	Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop...	ORPHA:2330
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:620654
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Adams-Oliver Syndrome	Thrombocytopenia, Leukopenia	ORPHA:974
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia	OMIM:616737
Tick-Borne Encephalitis	Thrombocytopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:297
Aicardi-Goutieres Syndrome 7	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin concentratio...	OMIM:615846
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ...	OMIM:252500
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
22Q11.2 Deletion Syndrome	Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes	ORPHA:567
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Anemia, Leukocytosis, Thrombocytopenia, Hyperphosphatemia, Elevated circulating cre...	ORPHA:340
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypercholesterolemia	OMIM:606721
Diamond-Blackfan Anemia 21	Thrombocytopenia, Anemia, Erythroid hypoplasia	OMIM:620072
Farber Disease	Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:333
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Elevated circulatin...	OMIM:256040
Kaposiform Lymphangiomatosis	Anemia, Abnormal spleen morphology, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	ORPHA:464329
Fanconi Anemia, Complementation Group F	Thrombocytopenia, Leukopenia, Anemia	OMIM:603467
Gaucher Disease	Decreased HDL cholesterol concentration, Anemia, Elevated circulating C-reactive protein concentr...	ORPHA:355
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Lathosterolosis	Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology	ORPHA:46059
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang...	ORPHA:244242
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo...	ORPHA:365
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Kikuchi-Fujimoto Disease	Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Leukopenia, Splenom...	ORPHA:50918
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Fanconi Anemia, Complementation Group D2	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:227646
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Down Syndrome	Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Acute megakaryocytic leukemia	ORPHA:870
Brucellosis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Splenome...	ORPHA:1304
Gaucher Disease, Type Ii	Thrombocytopenia, Anemia, Splenomegaly	OMIM:230900
Congenital Syphilis	Thrombocytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia	ORPHA:499009
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circul...	OMIM:619534
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Idiopathic Hypereosinophilic Syndrome	Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly...	ORPHA:3260
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:391487
Dubowitz Syndrome	Thrombocytopenia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Anemia	ORPHA:235
Yellow Fever	Hyperbilirubinemia, Leukocytosis, Elevated circulating creatine kinase concentration, Neutrophili...	ORPHA:99829
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Q Fever	Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	ORPHA:781
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Anemia	OMIM:612199
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Autosomal Recessive Polycystic Kidney Disease	Increased serum bile acid concentration, Hyponatremia, Thrombocytopenia, Splenomegaly, Hepatosple...	ORPHA:731
Stevens-Johnson Syndrome	Thrombocytopenia, Abnormality of neutrophils, Anemia	ORPHA:36426
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Medullary nephrocalcinosis, Adrenal calcification, Hyperphosphaturia, Pe...	ORPHA:51608
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Dyskeratosis Congenita	Thrombocytopenia, Abnormality of neutrophils, Anemia, Splenomegaly	ORPHA:1775
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Gaucher Disease Type 3	Thrombocytopenia, Anemia, Splenomegaly, Pancytopenia	ORPHA:77261
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hepatosplenomegaly, Hypomagnesemia, Hemolytic anemia	OMIM:619503
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Lymphopenia	OMIM:620005
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia	OMIM:251260
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Elevated circulating creatine kinase concentration, Leukocytosis, Neutrophilia, Leu...	ORPHA:99827
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Splenomegaly	OMIM:301072
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Hardikar Syndrome	Hyperbilirubinemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypersplenism	OMIM:301068
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Thrombocytopenia	ORPHA:487796
Thrombocytopenia-Absent Radius Syndrome	Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia	OMIM:274000
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
Fanconi Anemia	Anemia, Thrombocytopenia, Leukopenia, Pyridoxine-responsive sideroblastic anemia	ORPHA:84
Primary Sjögren Syndrome	Normocytic anemia, Normochromic anemia, Decreased proportion of CD4-positive helper T cells, Leuk...	ORPHA:289390
Dyskeratosis Congenita, X-Linked	Anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukopenia	OMIM:305000
Acute Liver Failure	Hyperammonemia, Thrombocytopenia	ORPHA:90062
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Pancytopenia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thrombocytopenia	ORPHA:2072
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Charge Syndrome	Hypocalcemia, Lymphopenia	OMIM:214800
Johanson-Blizzard Syndrome	Hypocalcemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration	OMIM:243800
Congenital Disorder Of Glycosylation, Type Iiw	Thrombocytopenia, Anemia, Splenomegaly, Microcytic anemia	OMIM:619525
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Hemolytic anemia	ORPHA:536
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950

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 Entr1

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 Entr1.

No publications found that use IMPC mice or data for Entr1.

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
Entr1^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Entr1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Entr1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Entr1^em1(IMPC)Mbp	Inter-exon deletion	Mice, Tissue
Entr1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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: Entr1 MGI:1915362

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Entr1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data