Genes Phenotypes Help, News, Blog

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

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

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 Dorso Ventral

67 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images

MicroCT E18.5

Embryo reconstruction

8 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

25 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

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, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	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	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	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, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypogo...	OMIM:613313
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot...	ORPHA:457083
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
8p23.1 deletion syndrome	Cryptorchidism, Hyperactivity	DECIPHER:39
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega...	OMIM:237800
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,...	OMIM:602390
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hypogonadism	OMIM:608540
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Morm Syndrome	Micropenis, Aggressive behavior, Hyperactivity	ORPHA:75858
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice	OMIM:618881
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Wolman Disease	Acute hepatic failure, Hepatomegaly, Splenomegaly	OMIM:620151
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete...	OMIM:271500
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Splenomegaly, Card...	OMIM:235200
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Ventricula...	OMIM:614876
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100024
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:79084
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomega...	ORPHA:83469
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Coffin-Siris Syndrome 8	Self-injurious behavior, Aggressive behavior, Cryptorchidism, Hyperactivity	OMIM:618362
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia	OMIM:313200
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micropenis, Cryptorchidism	OMIM:613861
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morpho...	ORPHA:54251
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Ascites, Anemia, Thrombocytopenia, Hepatomegaly	ORPHA:2123
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho...	ORPHA:85327
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos...	OMIM:606003
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated...	OMIM:273250
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ...	OMIM:613490
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Leydig Cell Hypoplasia	Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C...	ORPHA:755
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy	OMIM:613987
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatome...	OMIM:619433
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cryptorchidism, Ventricular septal defect	OMIM:613730
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Intellectual Developmental Disorder, Autosomal Dominant 67	Attention deficit hyperactivity disorder, Hypothyroidism, Motor tics, Hyperactivity, Compulsive b...	OMIM:619927
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Myotonic Dystrophy 1	Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia	OMIM:160900
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Fragile X Syndrome	Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Congenital mac...	OMIM:300624
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno...	OMIM:610333
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Hyperactivity, Impulsivity	OMIM:300143
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami...	OMIM:308700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618495
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t...	OMIM:616425
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Pancytopenia, Hepatic steatosis, Hepatomegaly, Hypergonadotropic hypogonadism	OMIM:617872
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Impulsivity, Attention deficit hyperactivity disorder, M...	ORPHA:8
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Beta-Thalassemia Intermedia	Cholelithiasis, Decreased liver function, Extramedullary hematopoiesis, Hypogonadism, Persistence...	ORPHA:231222
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr...	ORPHA:3097
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Portal hypertension, Splenomegaly, ...	ORPHA:465508
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Aggressive behavior, Hyperactivity, Anorexia, Macroorchidism	ORPHA:3077
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ...	ORPHA:158057
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho...	OMIM:208540
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly	OMIM:620210
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Elevated circulating aspartate aminotransferase concentration, Hepatic s...	OMIM:619048
Glycogen Storage Disease Iii	Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:232400
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormality of the uterus, Ascites, Pancreatic lymphangiectasis, Hepatosplenomeg...	ORPHA:1655
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Hepatic Veno-Occlusive Disease	Ascites, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration	ORPHA:890
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Cryptorchidism, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity...	ORPHA:228402
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Decreased liver function	ORPHA:570422
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly	ORPHA:79312
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Babesiosis	Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an...	ORPHA:108
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, Aggressive behavior, Hypera...	ORPHA:3306
Klatskin Tumor	Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormality of the menstrual ...	ORPHA:905
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis...	OMIM:613489
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defect	OMIM:616589
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:614034
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	ORPHA:398124
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,...	OMIM:618549
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Cryptorchidism, Abnormal aortic...	ORPHA:1194
Neuraminidase Deficiency	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m...	OMIM:256550
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly...	ORPHA:824
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Cardiomegaly, He...	OMIM:600649
Hemochromatosis, Type 4	Cardiomyopathy, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly	OMIM:606069
Graves Disease	Graves disease, Abnormal abdomen morphology, Goiter, Increased circulating free T3, Polyphagia, I...	OMIM:275000
Propionic Acidemia	Hepatomegaly, Cardiomyopathy	ORPHA:35
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr...	ORPHA:90797
Galactosemia I	Decreased liver function, Elevated circulating aspartate aminotransferase concentration, Reduced ...	OMIM:230400
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Congenital Rubella Syndrome	Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, Thrombocytopenia, Hepatome...	ORPHA:290
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase concentration, M...	OMIM:257200
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl...	OMIM:619151
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:603909
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly	OMIM:252920
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, H...	ORPHA:2348
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly	ORPHA:664
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Panc...	ORPHA:79083
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Micro...	ORPHA:325124
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis	OMIM:605309
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit...	OMIM:300400
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating ...	OMIM:618805
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly, Hypopl...	ORPHA:99812
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi...	ORPHA:264580
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Ventricular septal defect, Hepatome...	OMIM:615630
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Bone Marrow Failure Syndrome 5	Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia	OMIM:618165
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Cholestasis, Ascites, Cryptorchidism, Perimembranous ventricular septal...	OMIM:608104
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Agammaglobulinemia, X-Linked	Cor pulmonale, Lymph node hypoplasia, Prostatitis, B lymphocytopenia, Enteroviral hepatitis, Neut...	OMIM:300755
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	ORPHA:367
Fg Syndrome 3	Cryptorchidism, Hyperactivity	OMIM:300406
Triploidy	Abnormality of the gallbladder, Cryptorchidism, Ambiguous genitalia, Abnormal cardiac septum morp...	ORPHA:3376
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100026
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Polycystic ovaries	ORPHA:435651
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi...	OMIM:619424
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cr...	OMIM:615381
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Macrophage Activation Syndrome	Hepatitis, Decreased liver function, Hemophagocytosis, Elevated circulating aspartate aminotransf...	ORPHA:158061
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopeni...	ORPHA:457077
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph...	ORPHA:528
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Pelvic mass, Transverse vaginal s...	ORPHA:65681
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Cryptorchidism, Ventricular ...	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	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism	OMIM:201100
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo...	OMIM:618117
Sézary Syndrome	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Wolfram Syndrome 1	Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Dysphagia, Thrombocytopenia, Testicul...	OMIM:222300
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat...	OMIM:614582
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ...	ORPHA:77259
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Abnormal heart morphology, Cryptorchidism, Hypoplasia of the thymus, Hepato...	OMIM:214110
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Hydrocele testis, Micropenis, Hypertrophic cardiomyopathy	OMIM:618810
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis	ORPHA:91138
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Gaucher Disease, Type I	Aortic valve stenosis, Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepat...	OMIM:230800
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:300842
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo...	OMIM:617690
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio...	ORPHA:829
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Anemi...	ORPHA:85450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Polycyst...	ORPHA:79240
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Cryptorchidism, Ventricular ...	OMIM:601186
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Lymph node hypoplasia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in pre...	OMIM:613179
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Beta-Thalassemia Major	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231214
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Polycystic ovaries, Hepatic steatosis, Abnormal labia majora morphology	ORPHA:435660
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Dilated...	OMIM:615895
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Tangier Disease	Hepatomegaly, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:47612
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Hemolytic anemia, Impaired...	OMIM:618935
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly	OMIM:252900
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Abnormal temper tantrums, Self-mutilation, Stereotypical hand wringing, Skin-...	ORPHA:163681
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Splenomegaly, Cryptorchidism, Mitral valve prolapse, Hypogonadotropic ...	ORPHA:251066
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Small scrotum, Microphallus, Cryptorchidism, Self-mutilation, Hyperactivity, Micropenis, Motor st...	OMIM:300486
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:612310
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Absence of lymph node germinal center, Splenomegaly, Sclerosing cholangitis, Enlarged ...	OMIM:308230
Ovarian Dysgenesis 9	Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol...	OMIM:619665
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ...	ORPHA:2137
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism	OMIM:618440
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hepatocellular carcinoma	ORPHA:60
Premature Ovarian Failure 18	Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol...	OMIM:619203
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia	ORPHA:99931
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo...	ORPHA:781
Immunodeficiency 10	Autoimmune hemolytic anemia, Splenomegaly, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly...	ORPHA:331206
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ascites, Hepatosplenom...	OMIM:619487
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Mogs-Cdg	Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri...	ORPHA:79330
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Decreased erythrocyte fructose-1,...	OMIM:611881
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect...	OMIM:115197
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Male hypogonadism, Precocious puberty in females,...	ORPHA:90793
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Cirrhosis, Lymphangiectasis, Hepatomegaly	OMIM:602579
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptor...	OMIM:612541
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Hypogonadism...	ORPHA:2905
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, La...	OMIM:608594
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi...	OMIM:269700
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Acquired Generalized Lipodystrophy	Cardiomyopathy, Hepatic steatosis, Polycystic ovaries, Cirrhosis, Hepatomegaly, Acute pancreatitis	ORPHA:79086
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Atr...	ORPHA:3109
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase...	ORPHA:100080
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E...	ORPHA:79303
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Von Hippel-Lindau Syndrome	Polycythemia, Pheochromocytoma, Paraganglioma, Hepatic hemangioma, Epididymal cyst, Pancreatic cy...	OMIM:193300
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa...	OMIM:603553
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph...	OMIM:617591
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Lesch-Nyhan Syndrome	Testicular atrophy, Self-injurious behavior, Dysphagia, Megaloblastic anemia	OMIM:300322
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly, Pericarditis	OMIM:249100
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re...	ORPHA:288
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Meckel Syndrome 14	Hepatic fibrosis, Ambiguous genitalia, Aplasia of the uterus, Single ventricle	OMIM:619879
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Hepatic failure, Chronic noninfectious lymphadenopathy,...	ORPHA:97287
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Ascites, Chronic noninfectious lymphaden...	ORPHA:100085
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries	ORPHA:2969
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Mixed Connective Tissue Disease	Hemolytic anemia, Leukopenia, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly, Mediastin...	ORPHA:809
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperactivity, Anorexia, Hepatomegaly, Redu...	OMIM:207800
Cirrhotic Cardiomyopathy	Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Right at...	ORPHA:57777
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Syndromic Diarrhea	Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormality of the liver, Lymph...	ORPHA:84064
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati...	ORPHA:171
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Mitral valve prolapse, Hepatomegaly, Rig...	OMIM:620233
Familial Isolated Restrictive Cardiomyopathy	Hypertrophic cardiomyopathy, Interstitial cardiac fibrosis, Left atrial enlargement, Hepatomegaly...	ORPHA:75249
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Cholestasis, Tetralogy of Fallot, Splenomegaly, Ventricular se...	OMIM:222470
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid...	ORPHA:99819
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra...	OMIM:214500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Hepatic cysts, Dextrocardia, Hepatomegaly, Jaundice	OMIM:613095
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase...	ORPHA:100082
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Hy...	ORPHA:309854
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Maturity-onset diabetes of the young, Pa...	OMIM:137920
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp...	OMIM:610717
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C...	OMIM:301068
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney	OMIM:200995
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Abnormal morphology of female internal genitalia, S...	ORPHA:1775
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ...	ORPHA:96191
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, Secondary ame...	OMIM:157640
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy...	ORPHA:90796
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid...	ORPHA:424
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Aplasia of the uterus, Thrombocytopenia, Abnormal cardiac septum morphology	ORPHA:3320
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Macrocytic anemia, Prolonged neon...	OMIM:615512
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect, Hydrocele testis	OMIM:616843
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, Septate vagina, Aplasia of t...	ORPHA:2237
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Cryptorchidism, Macrocytic anemia, Attention deficit hyperactivity disorder, Hyperac...	OMIM:614294
Neuroendocrine Neoplasm Of Appendix	Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, A...	ORPHA:100079
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Brucellosis	Hypersplenism, Abnormality of the liver, Leukopenia, Splenomegaly, Abnormal aortic valve morpholo...	ORPHA:1304
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Anemia, ...	ORPHA:77261
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Hypoparathyroidism	OMIM:146255
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp...	ORPHA:186
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Splenomegaly, Pancreatitis, Pancreatic f...	OMIM:232220
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:276700
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal myocardium morphology, Lymphadenopath...	ORPHA:32960
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom...	OMIM:130650
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Anemia, Splenomegaly, Primary hyperparathyroidism	OMIM:239200
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Dilated cardiomyopathy, Cholestasis, Ascites, Elevated circulating aspartate ami...	OMIM:619573
Gray Platelet Syndrome	Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Splenomegaly, Vaginal atresia, Hepatomegaly	OMIM:617088
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Splenomegaly, Pancre...	ORPHA:565612
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Pearson Syndrome	Bone marrow hypocellularity, Hepatic failure, Elevated circulating hepatic transaminase concentra...	ORPHA:699
Hyperthyroidism, Nonautoimmune	Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 concentratio...	OMIM:609152
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas...	ORPHA:97261
Familial Mediterranean Fever	Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, ...	ORPHA:342
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly, Aplasia of the sweat glands	OMIM:612132
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Cystic Fibrosis	Cor pulmonale, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosi...	OMIM:219700
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope...	OMIM:613471
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal heart valve morphology, Hyper...	ORPHA:77293
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas...	ORPHA:97278
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Thrombocytopenia-Absent Radius Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular...	OMIM:274000
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Splenomegaly, Hypogonadism	ORPHA:163746
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular...	OMIM:236680
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Increased circulating p...	ORPHA:97283
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Elevated circulating alanine ami...	OMIM:243800
Porphyria, Congenital Erythropoietic	Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Throm...	OMIM:263700
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Splenomegal...	ORPHA:2729
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Pericardial effusion, Pancytopenia, Splenomegaly, Generalized...	OMIM:181000
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus, Anemia, Bone marrow hypocellularity	OMIM:614083
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Impotence, Elevated circulating hepatic transaminase concentra...	ORPHA:273
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Polycythemia, Neoplasm of the pancreas, Pancreatic isle...	ORPHA:892
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Cryptorchidism, Ovarian cyst, Aplasia of...	OMIM:614527
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Cystocele, Cryptorchidism, B...	ORPHA:322
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig...	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	Accessory spleen, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Ventricular sept...	OMIM:194190
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Aortopulmonary window, Cryptorchidism, Ventricular septal defect	OMIM:620025
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple	ORPHA:1521
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
Floating-Harbor Syndrome	Precocious puberty, Varicocele, Abnormal temper tantrums, Cryptorchidism, Aggressive behavior, At...	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	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Anemia, Cerv...	OMIM:130050
Histidinemia	Hyperactivity	ORPHA:2157
Floating-Harbor Syndrome	Varicocele, Glandular hypospadias, Cryptorchidism, Aggressive behavior, Epididymal cyst, Hypospadias	OMIM:136140
Townes-Brocks Syndrome 1	Bifid scrotum, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Atrial septal defe...	OMIM:107480
Neu-Laxova Syndrome 1	Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter...	OMIM:256520
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Aplasia of ...	OMIM:135900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of th...	OMIM:276820
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Abnormal heart valve morphology, Cystocele, Cryptorchidism, Uterine prolapse, Mi...	ORPHA:286
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Supernumerary nipple, Hypertrophic cardiomyopathy, Cryptorc...	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.

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
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

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: Clasp1 MGI:1923957

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E18.5

X-ray

X-ray

Human diseases caused by Clasp1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data