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Gene: Clasp1 MGI:1923957

Gene Summary

Name:

CLIP associating protein 1

Synonyms:

5730583A19Rik, CLASP1alpha, CLASP1, mCLASP1, 1700030C23Rik, B130045P17Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
small testis	Clasp1^em1(IMPC)Mbp	HET	Early adult	0.00
hyperactivity	Clasp1^em1(IMPC)Mbp	HET	Early adult	1.15×10^-05
preweaning lethality, incomplete penetrance	Clasp1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged liver	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal spleen morphology	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
blind uterus	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal testis morphology	Clasp1^em1(IMPC)Mbp	HET	Early adult	0.00
small heart	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Clasp1^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Clasp1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged epididymis	Clasp1^em1(IMPC)Mbp	HET	Early adult	0.00
absent seminal vesicle	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Clasp1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
hydrometra	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged lymph nodes	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged seminal vesicle	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal liver morphology	Clasp1^em1(IMPC)Mbp	HET	Late adult	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

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X-ray

XRay Images Whole Body Dorso Ventral

67 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Clasp1 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 Clasp1 (0 diseases)
Human diseases predicted to be associated with Clasp1 (591 diseases)

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

The table below shows human diseases predicted to be associated to Clasp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Schizophrenia 15	Hyperactivity	OMIM:613950
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
8p23.1 deletion syndrome	Hyperactivity, Cryptorchidism	DECIPHER:39
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Hypog...	OMIM:602390
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Morm Syndrome	Hyperactivity, Micropenis, Aggressive behavior	ORPHA:75858
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans...	OMIM:301045
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Galactosemia Iv	Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe...	ORPHA:1916
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Jaundice, Ventricular septal defec...	OMIM:614876
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:79084
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
Coffin-Siris Syndrome 8	Hyperactivity, Self-injurious behavior, Cryptorchidism, Aggressive behavior	OMIM:618362
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Retinitis Pigmentosa 59	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Micropenis, Cryptorchidism	OMIM:613861
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:615158
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Abnormal vagina morphology, Ascites, Thrombocytopenia	ORPHA:2123
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr...	ORPHA:85327
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin...	OMIM:273250
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly	ORPHA:1046
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Restrictive cardiomyopathy, Ascites, Pulmonic stenosis, Hepatic artery hyperplasia,...	OMIM:619433
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Cryptorchidism	OMIM:613730
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Compulsive behaviors, Hypothyroidism, Motor tics, Attention deficit hyperactivity ...	OMIM:619927
Coproporphyria, Hereditary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:121300
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Myotonic Dystrophy 1	Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy	OMIM:160900
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Fragile X Syndrome	Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ...	OMIM:300624
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Macroorchidism, Impulsivity	OMIM:300143
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy...	OMIM:618280
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
46,Xy Sex Reversal 10	Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic...	OMIM:616425
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hepatic steatosis, Hepatic failure	OMIM:617872
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
47,Xyy Syndrome	Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Hyperactivity, Ol...	ORPHA:8
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ...	ORPHA:231222
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Chronic hepatic failure,...	ORPHA:465508
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly	OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Abnormal fear-induced behavior, Hyperactivity, Macroorchidism, Aggressive behavior	ORPHA:3077
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Atrial...	OMIM:208540
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular hypertrophy, C...	OMIM:232400
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentratio...	OMIM:619048
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ventricular septal...	ORPHA:1655
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Ascites, Hepatomegaly	ORPHA:890
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
2Q23.1 Microdeletion Syndrome	Hypoplasia of penis, Hyperactivity, Polyphagia, Motor stereotypy, Self-injurious behavior, Crypto...	ORPHA:228402
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cholestasis	ORPHA:570422
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Hepatic fai...	ORPHA:108
Inverted Duplicated Chromosome 15 Syndrome	Gonadal dysgenesis, Hyperactivity, Precocious puberty, Motor stereotypy, Hypogonadism, Cryptorchi...	ORPHA:3306
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	ORPHA:905
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H...	OMIM:613489
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Splenomegaly, Hepatic fibrosis, Ventricular septal defect	OMIM:616589
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple...	OMIM:614034
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir...	OMIM:619232
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Abnormal aortic valve morphology, Hepatomegaly, Hypospadias, Hypertrophic cardiomyopathy, Cryptor...	ORPHA:1194
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega...	OMIM:256550
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Hepatic steatosis	OMIM:606069
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Abnorm...	OMIM:275000
Propionic Acidemia	Hepatomegaly, Cardiomyopathy	ORPHA:35
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating alanine aminotransferase ...	OMIM:230400
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular...	ORPHA:290
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Bile...	OMIM:619662
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepati...	ORPHA:2348
Akt2-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovar...	ORPHA:79083
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu...	OMIM:300400
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Dilated ...	OMIM:618805
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevated circulating he...	ORPHA:264580
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cholestasis, Splenomegaly, Hepatic fibrosis, Ventricular septal defect, Hepatic fai...	OMIM:615630
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholest...	OMIM:608104
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Fg Syndrome 3	Hyperactivity, Cryptorchidism	OMIM:300406
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Ambiguous genital...	ORPHA:3376
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:435651
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, R...	OMIM:619424
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:615381
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly	ORPHA:234
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Congenital Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in females, Hypertrophic cardio...	ORPHA:528
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice	OMIM:243300
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Vaginal Atresia	Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,...	ORPHA:65681
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ventricular septal defect, Ascites, Splenomegaly, Pulm...	OMIM:235255
Galactokinase Deficiency	Hepatomegaly, Hepatosplenomegaly, Hypergonadotropic hypogonadism	ORPHA:79237
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:201100
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Wolfram Syndrome 1	Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia,...	OMIM:222300
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Elevated circulating alanine aminotransferase concentration, ...	OMIM:614582
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the ...	OMIM:214110
Meckel Syndrome, Type 3	Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation	OMIM:607361
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Micropenis, Hypertrophic cardiomyopathy, Hydrocele testis	OMIM:618810
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver	ORPHA:91138
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Mcleod Syndrome	Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno...	OMIM:300842
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, ...	ORPHA:85450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic left atrium, Truncus arteriosus, Ventricular septal defect, Bi...	OMIM:601186
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath...	ORPHA:231214
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:435660
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs...	ORPHA:480520
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C...	OMIM:615895
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Tangier Disease	Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Stereotypical hand wringing, Precocious pu...	ORPHA:163681
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, Mitral valve prolaps...	ORPHA:251066
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Microphallus, Motor stereotypy, Small scrotum, Cryptorchidism, Micropenis, Self-mu...	OMIM:300486
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Premature Ovarian Failure 6	Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei...	OMIM:612310
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619665
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism	OMIM:618440
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619203
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Hepatitis, Hepatic failure	ORPHA:60
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:781
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega...	OMIM:612783
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Acute pancreatitis...	OMIM:619487
Mogs-Cdg	External genital hypoplasia, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular...	ORPHA:79330
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, ...	ORPHA:549
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Hepatic fibrosis, Hepatic failure	OMIM:602579
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Pulmonic st...	OMIM:612541
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno...	ORPHA:2905
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr...	OMIM:269700
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Acute pancreatitis, Cardiomyopathy, Polycystic ovaries, Hepatic steatosis	ORPHA:79086
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,...	ORPHA:3109
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Cholestasis, Biliary cirrhosis, Elevated circulating aspartate aminotransferase con...	OMIM:620454
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Papillary cystadeno...	OMIM:193300
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:214950
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula...	OMIM:603553
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T...	OMIM:617591
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Lesch-Nyhan Syndrome	Testicular atrophy, Self-injurious behavior, Megaloblastic anemia, Dysphagia	OMIM:300322
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:255120
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Peritonitis, Orchitis	OMIM:249100
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Meckel Syndrome 14	Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus, Single ventricle	OMIM:619879
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Argininemia	Anorexia, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Hyperactivity, Ch...	OMIM:207800
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le...	ORPHA:57777
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Ventricular septal defect, ...	ORPHA:84064
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Hypertrophic cardiomyopathy, Right atrial enlargement, Int...	ORPHA:75249
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Cholestasis, Ventricular septal defect, Pulmonic ...	OMIM:222470
Familial Gestational Hyperthyroidism	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating...	ORPHA:99819
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Hepatic cysts	OMIM:613095
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Elevated circulating hepatic transaminase concentration, Hy...	OMIM:137920
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Card...	OMIM:610717
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Ascites, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia	OMIM:200995
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Abnormal testis morphology, Bone marro...	ORPHA:1775
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Dysphagia,...	OMIM:157640
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Agitation, Hyperactivity, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Goiter, Activating...	ORPHA:424
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac septum morphology	ORPHA:3320
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect, Hydrocele testis	OMIM:616843
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Abnormal hea...	ORPHA:2237
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Hyperactivity, Attention deficit hyperactivity disorder, Cryptorchidism, Polys...	OMIM:614294
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ovarian neoplasm, Adrenoco...	ORPHA:100079
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral valve calcification, ...	ORPHA:77261
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Septate vagina	OMIM:146255
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Elevated circulating hepatic transaminase conce...	OMIM:276700
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Abnormal myocar...	ORPHA:32960
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Pancreatic hyperplasia, Hepatoblasto...	OMIM:130650
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Anemia, Splenomegaly, Primary hyperparathyroidism	OMIM:239200
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte...	ORPHA:731
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia	OMIM:617088
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl...	ORPHA:565612
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Anemia, Hypoparathyroidism, ...	ORPHA:699
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97261
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Pericarditis, Acute hepatic failure, Spleno...	ORPHA:342
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Aplasia of the sweat glands, Splenomegaly	OMIM:612132
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Hepatosplenomegaly, Exocrine pancreatic...	OMIM:219700
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97278
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hep...	OMIM:274000
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Splenomegaly, Hypogonadism	ORPHA:163746
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus...	OMIM:236680
Somatostatinoma	Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfunction, Hypoch...	ORPHA:97283
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo...	OMIM:263700
Okamoto Syndrome	Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ...	ORPHA:2729
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Aplasia of the uterus, Anemia, Micropenis	OMIM:614083
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Steinert Myotonic Dystrophy	Obsessive-compulsive trait, Decreased response to growth hormone stimulation test, Hyperinsulinem...	ORPHA:273
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet ...	ORPHA:892
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Aplasia of the vagina, Aplasia of the ut...	OMIM:614527
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Ab...	ORPHA:322
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext...	ORPHA:90794
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Ventricular septal defect, Precocious puber...	OMIM:194190
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Hepatomegaly, Aortopulmonary window, Cryptorchidism	OMIM:620025
Limb-Mammary Syndrome	Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells	ORPHA:3063
Floating-Harbor Syndrome	Abnormal temper tantrums, Hypospadias, Compulsive behaviors, Impulsivity, Epididymal cyst, Precoc...	ORPHA:2044
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel...	OMIM:130050
Histidinemia	Hyperactivity	ORPHA:2157
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Varicocele, Epididymal cyst, Cryptorchidism, Aggressive behavior	OMIM:136140
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Bifid scrotum, Ventricular septal defect, Rectoperineal fistul...	OMIM:107480
Neu-Laxova Syndrome 1	Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Bifid uterus, Ventricu...	OMIM:256520
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Cryptorchidism, Tetralogy of Fallot, At...	OMIM:135900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Abnormal heart valve morphology, Uterine prolapse, Mitral valve pro...	ORPHA:286
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Ventricular s...	OMIM:601803
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649

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 Clasp1

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 Clasp1.

No publications found that use IMPC mice or data for Clasp1.

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MGI Allele	Allele Type	Produced
Clasp1^{tm269929(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Clasp1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Clasp1 MGI:1923957

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Clasp1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data