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Gene: Tle4 MGI:104633

Gene Summary

Name:

transducin-like enhancer of split 4

Synonyms:

5730411M05Rik, Bce1, Grg4, ESTM13, ESTM14

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged lymph nodes	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
impaired glucose tolerance	Tle4^em1(IMPC)Mbp	HOM	Early adult	7.75×10^-06
abnormal kidney morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal cholesterol homeostasis	Tle4^em1(IMPC)Mbp	HOM	Early adult	7.28×10^-05
decreased lean body mass	Tle4^em1(IMPC)Mbp	HOM	Early adult	1.72×10^-10
small kidney	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
increased total body fat amount	Tle4^em1(IMPC)Mbp	HOM	Early adult	1.39×10^-10
enlarged liver	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
male infertility	Tle4^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased grip strength	Tle4^em1(IMPC)Mbp	HOM	Early adult	1.33×10^-06
decreased prepulse inhibition	Tle4^em1(IMPC)Mbp	HOM	Early adult	7.59×10^-05
abnormal skin morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased bone mineral content	Tle4^em1(IMPC)Mbp	HOM	Early adult	3.52×10^-09
abnormal rectum morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased heart weight	Tle4^em1(IMPC)Mbp	HOM	Early adult	3.14×10^-05
abnormal eye morphology	Tle4^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal auditory brainstem response	Tle4^em1(IMPC)Mbp	HOM	Early adult	2.88×10^-06
decreased locomotor activity	Tle4^em1(IMPC)Mbp	HOM	Early adult	1.55×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

22 Images

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XRay Images Whole Body Lateral Orientation

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Human diseases caused by Tle4 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 Tle4 (0 diseases)
Human diseases predicted to be associated with Tle4 (1090 diseases)

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

The table below shows human diseases predicted to be associated to Tle4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Metaphyseal chondrodysplasia, Lymphopenia	OMIM:200900
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Wide anterior fon...	OMIM:617241
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Anemia, Ab...	ORPHA:1802
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I...	OMIM:300400
Mantle Cell Lymphoma	Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy	ORPHA:52416
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Squamous Cell Carcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Lymphadenopathy, Anal canal squamous cell carcinoma, Neoplasm of ...	ORPHA:424019
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Immunodeficiency 104	Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly	OMIM:608971
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Lymphadenopathy, Gastroesophageal reflux	ORPHA:99976
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Osteoporosis, Spleno...	ORPHA:100024
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly, Abnormal small intestine morphology	ORPHA:100025
Immunodeficiency 105	Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc...	OMIM:619924
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Mirage Syndrome	Rocker bottom foot, Anemia, Radial club hand, Patent ductus arteriosus, Adrenal hypoplasia, Decre...	OMIM:617053
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Portal h...	OMIM:617068
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Failure to thrive in infancy, Abnormally low ...	OMIM:618987
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n...	OMIM:615401
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Decreased skull ossification, Asplenia, Short stature, Fail...	OMIM:602361
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Short stature, S...	ORPHA:2204
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Burkitt Lymphoma	Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Decreased pr...	ORPHA:543
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Splenomegaly, Lymphopenia	OMIM:619164
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Anemia, Lower-limb metaphyseal irregularity, Enlarged metaphyses, S...	OMIM:618728
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi...	OMIM:615615
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Fa...	OMIM:612782
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, F...	ORPHA:277
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Growth delay,...	ORPHA:169079
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gall...	ORPHA:2869
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th...	OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Failure to thrive, Agammaglobulinemia,...	OMIM:613501
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Hepatomegaly, Reduced bone mineral density, Short stature, Decrease...	OMIM:620210
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma...	ORPHA:3344
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Lissencephaly Syndrome, Norman-Roberts Type	Rocker bottom foot, Adducted thumb, Hypoplastic spleen, Intrauterine growth retardation	ORPHA:89844
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastr...	ORPHA:79301
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Immunodeficiency 62	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:618459
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ...	OMIM:619350
Axin2-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Colon cancer, Neoplasm of the rectum, Colorectal polyposis	ORPHA:401911
Immunodeficiency, Common Variable, 11	Clubbing of fingers, Decreased proportion of class-switched memory B cells, Increased circulating...	OMIM:615767
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Kerion Celsi	Lymphadenopathy	ORPHA:499
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Immunodeficiency 115 With Autoinflammation	Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Partial absence of specific an...	OMIM:620632
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Immunodeficiency 102	Hepatomegaly, Anemia, Decreased circulating total IgM, Partial absence of specific antibody respo...	OMIM:301082
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu...	OMIM:602450
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Lymphadenopathy, Clubbing of fingers, Increased circulating IgG level, Increased circulating IgE ...	OMIM:618982
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia	OMIM:619773
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A...	OMIM:613493
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ...	OMIM:102700
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Ataxia-Telangiectasia	Delayed puberty, Hypoplasia of the thymus, T lymphocytopenia, Female hypogonadism, Decreased circ...	OMIM:208900
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the third metatarsal bone, Abnormality of the fifth me...	ORPHA:564003
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an...	ORPHA:397596
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Patent ductus arteriosus, Hypoplasi...	OMIM:612541
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:601071
Pseudomyxoma Peritonei	Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Ascites, Inflammation of...	ORPHA:26790
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:243150
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, B lymphocytopenia,...	OMIM:601457
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Type I diabetes mellitus, Transient neutropenia, Decreased circu...	OMIM:619707
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul...	OMIM:613500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Co...	OMIM:613101
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:616515
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular...	OMIM:613490
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Aplasia of the thymus, T lymphocytopenia, Failure to thrive, He...	OMIM:242700
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Adenocarcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Anal canal adenocarcinom...	ORPHA:424016
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope...	OMIM:308240
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hepatic failure	ORPHA:75234
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr...	OMIM:619281
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Roifman Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Lymphadenopathy, Broad femoral head...	ORPHA:353298
Blue Rubber Bleb Nevus	Rectal prolapse, Iron deficiency anemia, Volvulus, Thrombocytopenia, Intestinal bleeding, Abnorma...	OMIM:112200
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Abnormal B cell morphology, Decreased circulating antibody level, Hypoplastic ischia...	OMIM:616910
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Ganglioneuroma	Gastrointestinal hemorrhage, Colorectal polyposis, Multiple intestinal neurofibromatosis, Abnorma...	ORPHA:251992
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula...	OMIM:612692
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Camptodactyly,...	OMIM:214110
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Immunodeficiency 57 With Autoinflammation	Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe...	OMIM:618108
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev...	ORPHA:169154
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch...	ORPHA:70593
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Immunodeficiency 54	Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, ...	OMIM:609981
Galactosemia Iv	Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Harderoporphyria	Increased fecal harderoporphyrin, Hepatomegaly, Increased urine harderoporphyrin level, Increased...	OMIM:618892
Spermatogenic Failure 17	Male infertility	OMIM:617214
Autosomal Recessive Spastic Paraplegia Type 44	Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm...	ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials	OMIM:601382
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Growth delay, Decr...	OMIM:619510
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill...	ORPHA:331206
Proteus Syndrome	Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splenomegaly,...	OMIM:176920
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Sensorineural hearing impairment, Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Ravine Syndrome	Failure to thrive, Decreased body weight, Ataxia, Abnormal auditory evoked potentials	ORPHA:99852
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Splenom...	OMIM:613313
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma...	OMIM:150550
Immunodeficiency 43	Hypoplasia of the ulna, Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnorma...	OMIM:241600
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Polycystic liver disease, Mul...	ORPHA:2924
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Postnatal growth retardation, Elevated circulating parathyroid hormone level, Hepatomega...	ORPHA:289157
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:131
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Recurrent otitis media, Absent sperm axoneme central pair...	OMIM:301101
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity,...	OMIM:231095
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Bilateral sensorineur...	OMIM:611102
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level...	ORPHA:98813
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Alaninuria, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Immunodeficiency 114, Folate-Responsive	Postnatal growth retardation, Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level...	OMIM:620603
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Inflammation of the large intestin...	OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra...	OMIM:614034
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Short stature, Bone marrow hypocellularity, F...	OMIM:619151
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Immunodeficiency, Common Variable, 6	Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:613496
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Colon cancer, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia, Severe short stature	OMIM:619851
Sclerosteosis	Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Finger ...	ORPHA:3152
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
Familial Papillary Or Follicular Thyroid Carcinoma	Colon cancer, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Ataxia-Telangiectasia	Delayed puberty, Decreased circulating antibody level, Abnormal testis morphology, Short stature,...	ORPHA:100
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Hyperostosis Corticalis Generalisata	Diaphyseal undertubulation, Cranial hyperostosis, Abnormal cortical bone morphology, Generalized ...	ORPHA:3416
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa...	OMIM:618935
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Growth delay, Decreased circulating IgG ...	OMIM:614069
Immunodeficiency 15B	Decreased circulating antibody level, Failure to thrive, Agammaglobulinemia, Monocytosis, Reduced...	OMIM:615592
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Rectal prolapse, Hypercalciuria, Meconium ile...	OMIM:219700
Reticular Dysgenesis	Anemia, Decreased circulating antibody level, Failure to thrive, Leukopenia, Weight loss, Aplasia...	ORPHA:33355
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Eiken Syndrome	Fibular hypoplasia, Abnormal bone ossification, Delayed epiphyseal ossification, Short stature, E...	ORPHA:79106
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat...	OMIM:606367
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Elevated cir...	ORPHA:64743
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte...	OMIM:125250
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,...	OMIM:620430
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidis...	OMIM:618849
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Panhypogammaglobulinemia, Hypoplasia of the th...	ORPHA:84064
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Elevate...	OMIM:613812
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Ab...	OMIM:175200
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ...	OMIM:615214
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, B lymphocytopenia, T lymphocytopenia, Intrauterine growt...	OMIM:615966
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen...	OMIM:235555
Stormorken-Sjaastad-Langslet Syndrome	Short stature, Anemia, Asplenia	ORPHA:3204
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Aplasia/hypoplasia involving bones of the upper limbs, Hypoplasia o...	ORPHA:40366
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans...	OMIM:301045
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph...	OMIM:616100
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegal...	ORPHA:75233
Adams-Oliver Syndrome 6	Esophageal varix, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis	OMIM:616589
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Jaundice, Glossoptosis, Hepatomegaly	OMIM:614876
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Clinodactyly of the 5th finger, Lymphopenia	ORPHA:1116
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Narrow greater sciatic notch, Dislocated radial head, Delayed ossification of carpal bones, Decre...	OMIM:617425
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased lymphocyte proliferation in resp...	ORPHA:276
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Failure to thrive secondary to recurrent infections, Decrea...	ORPHA:169160
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Bone Marrow Failure Syndrome 4	Anemia, Rhizomelia, Decreased circulating antibody level, Short stature, Bone marrow hypocellular...	OMIM:618116
Lethal Congenital Contracture Syndrome 10	Short long bone, Femoral bowing, Hypoplasia of the thymus, Intrauterine growth retardation, Adduc...	OMIM:617022
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Lymphopenia, Intrauterine growth retardation, Craniosynostosis, Accessory spleen, Portal hyperten...	OMIM:620005
Cholesteryl Ester Storage Disease	Steatorrhea, Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepati...	OMIM:278000
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse...	ORPHA:1215
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo...	OMIM:619652
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Thrombocytopenia, Proximal placement of th...	OMIM:618624
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Hy...	ORPHA:970
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Pearson Syndrome	Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Pancreatic fibrosis, Hepatic steatosi...	ORPHA:699
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Steatorrhea, Protein-losing enteropathy, Villous atrop...	OMIM:602579
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Roifman Syndrome	Postnatal growth retardation, Hepatomegaly, Clinodactyly of the 5th finger, Lymphadenopathy, Shor...	OMIM:616651
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Spermatogenic Failure 25	Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617960
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Sensorineural hearing impairment, Facial palsy, Absent brainstem audit...	OMIM:617519
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia	ORPHA:217390
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor...	ORPHA:100026
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Abno...	ORPHA:85450
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Solitary Rectal Ulcer Syndrome	Rectal prolapse, Anemia, Anal fissure, Hematochezia, Stercoral ulcer	ORPHA:209964
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Hyperostosis, Abnormal eosinophil morphology, Abnormal platelet function,...	ORPHA:906
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Split hand, Foot polydactyly, Short stature, Aplasia of the thymus, Phocomelia	ORPHA:3004
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit...	ORPHA:234
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pyloric stenosis, Bone marrow hypocellularity, ...	ORPHA:381
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi...	OMIM:612714
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,...	OMIM:208540
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Elevated circulating parathyroid hormone level, Genu valgum, Fibular bowing, Generalized...	OMIM:600785
Systemic Lupus Erythematosus 17	Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia	OMIM:301080
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Deafness-Infertility Syndrome	Sensorineural hearing impairment, Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia	ORPHA:1646
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun...	ORPHA:35078
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619528
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Spermatogenic Failure 63	Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Short metacarpal, Rhizomelic arm shortening, Short ...	ORPHA:508542
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Osteopenia, Lateral displacement of the femoral head, Elevated circul...	OMIM:242900
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa...	ORPHA:91138
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Osteopenia, Central diabetes insipidus, Non-caseating epithelio...	ORPHA:227990
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Renal i...	ORPHA:890
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Hepatomegaly, Renal cyst	OMIM:614870
Spermatogenic Failure 30	Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia	OMIM:618110
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypospadias, Vesicouretera...	OMIM:301056
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Hepatomegaly, Thin bony cortex, Failure to thrive, Splenomegaly, Patent d...	OMIM:230600
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Claw hand deformity, Sensorineural hearing impairment, Abnor...	OMIM:601455
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro...	ORPHA:83471
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Pachydermoperiostosis	Hepatomegaly, Anemia, Osteolysis, Abnormal cortical bone morphology, Osteoporosis, Hyperhidrosis,...	ORPHA:2796
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Osteopenia, Central diabetes insipidus, Non-caseating epithelio...	ORPHA:227982
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe...	ORPHA:2538
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Inguinal hernia	OMIM:261550
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Immunodeficiency 40	Rectal fistula, Hepatomegaly, Macrovesicular hepatic steatosis, Focal active colitis, Elevated ci...	OMIM:616433
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites, Nephrotic syndrome, Splenomegaly, Car...	OMIM:269920
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Intestinal ps...	ORPHA:1333
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Reduced natur...	OMIM:619374
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis	OMIM:616871
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Decreased circulating total IgG, Decreased lymphocyte proliferation in response to mi...	ORPHA:221139
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Castleman Disease	Intestinal obstruction, Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria...	ORPHA:160
Schimke Immuno-Osseous Dysplasia	Abnormal femoral head morphology, Abnormal lymphocyte physiology, Hypoplastic pelvis, Bone marrow...	ORPHA:1830
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent infec...	OMIM:613489
American Trypanosomiasis	Aganglionic megacolon, Hepatomegaly, Lymphadenopathy, Splenomegaly, Achalasia	ORPHA:3386
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Lymphopenia, Agammaglobulin...	ORPHA:935
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Spermatogenic Failure 50	Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Gaucher Disease Type 1	Delayed puberty, Increased circulating antibody level, Leukopenia, Splenomegaly, Erlenmeyer flask...	ORPHA:77259
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly...	ORPHA:443811
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Rhabdoid Tumor	Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Hemochromatosis, Type 3	Cirrhosis, Anemia, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia	OMIM:604250
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Failure to thrive, T...	OMIM:617591
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, High palate, Splenomegaly	OMIM:615637
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume,...	ORPHA:2169
Grant Syndrome	Abnormal cortical bone morphology, Decreased skull ossification, Abnormal pelvic girdle bone morp...	ORPHA:2097
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Ck Syndrome	Slender build, Abnormal cortical bone morphology, Abnormal digit morphology	OMIM:300831
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Cortical irregularity, Periosteal t...	ORPHA:1310
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Rectal abs...	ORPHA:70475
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly, Gastroesophageal reflux	ORPHA:2414
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia	OMIM:619831
Adult Idiopathic Neutropenia	Increased circulating IgM level, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia	ORPHA:2688
Pyle Disease	Reduced bone mineral density, Genu valgum, Metaphyseal widening, Metaphyseal dysplasia, Thin bony...	OMIM:265900
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Rectal prolapse, Pancreatitis, Acute colitis, Anuria, Intestinal perforation...	ORPHA:90038
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Hiatus hernia	ORPHA:101009
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Anemia, Lymphadenopathy, Ileus, Decreased FOXP3-expressing T cell count, Thrombo...	OMIM:304790
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Growth delay, Decreased circulating IgG leve...	OMIM:612301
Microphthalmia, Syndromic 9	Multilobulated spleen, Short stature, Hypoplastic spleen, Severe short stature, Patent ductus art...	OMIM:601186
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis...	ORPHA:79456
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Rectal prolapse, Ectopi...	OMIM:235510
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Aggressive Systemic Mastocytosis	Decreased liver function, Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proport...	ORPHA:98850
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Subperiosteal bone resorption, Rickets, Elevated circulating parathyroid hormone level, Fibular b...	OMIM:264700
Treacher-Collins Syndrome	Abnormality of the adrenal glands, Abnormality of bone mineral density, Thyroid hypoplasia, Hypop...	ORPHA:861
Vitamin D-Dependent Rickets, Type 2A	Subperiosteal bone resorption, Rickets, Elevated circulating parathyroid hormone level, Fibular b...	OMIM:277440
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Decreased circulating antibody level, Bone marrow hypocellularity, ...	OMIM:615190
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth...	OMIM:618223
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re...	OMIM:620133
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Short stature, Pseudoa...	OMIM:619795
Sialidosis Type 2	Ascites, Hepatomegaly, Nephropathy, Splenomegaly	ORPHA:87876
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Osteopenia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, E...	ORPHA:486
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Sandal gap, Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Growth delay	OMIM:613177
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Immunodeficiency 31C	Autoimmune hemolytic anemia, Osteopenia, Delayed puberty, Hepatomegaly, Impaired lymphocyte trans...	OMIM:614162
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo...	ORPHA:2930
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati...	ORPHA:848
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Short long bone, Leukopenia, Thrombocytopenia, Lymphopenia, Disproportion...	OMIM:301110
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Growth d...	OMIM:600081
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he...	ORPHA:2137
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Fanconi Anemia, Complementation Group O	Anal atresia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Rectal atresia	OMIM:613390
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Biliary atresia, Meckel diverticulum, Vesicoureteral reflux, Anal ...	OMIM:115470
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Anemia, Colon cancer, Hematochezia, Intussusception, Du...	OMIM:174900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,...	OMIM:619752
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach...	ORPHA:44890
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of ...	ORPHA:33276
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Decreased circulating antibody level, Obesity, Splenomeg...	OMIM:605309
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel...	OMIM:613179
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Short stature, 2-3 toe syndactyly, Lymphopenia	ORPHA:391307
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Bone marrow hypocellularity, Short thumb, Intrauterine growth retar...	OMIM:609054
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Toe clinodactyly, Short stature, Short...	ORPHA:166277
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ...	ORPHA:293978
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Growth de...	OMIM:616084
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah...	ORPHA:480520
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy...	ORPHA:231222
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ...	ORPHA:73
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Abnormal bone ossification, Clinodactyly of the 5th...	ORPHA:79324
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Impaired lymphocyte transformation with phytohemagglutinin, An...	OMIM:250250
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus,...	OMIM:620365
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Cleft palate, Hepatic fibrosis, Multicystic kidney dysplas...	OMIM:607361
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal irregularity, Short iliac bones, Lymphadenopathy, Metaphyseal sclerosis, T lymphocyto...	OMIM:607944
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cholestasis	ORPHA:570422
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing...	OMIM:241530
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Hashim...	ORPHA:436252
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Eec Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Anterior hypo...	ORPHA:1896
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Osteopetrosis, Anemia, Increased bone mineral density, Cortical scl...	OMIM:620366
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Isochromosomy Yp	Male infertility, Azoospermia	ORPHA:98797
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Esophageal varix, Cholestasis, Portal ...	OMIM:619662
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Tracheoesophageal fistula, Pyloric sten...	ORPHA:379
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, High palate, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Difficulty walking, Abnormal cranial ...	OMIM:601596
Free Sialic Acid Storage Disease	Hepatomegaly, Ascites, Nephrotic syndrome, Proteinuria, Splenomegaly	ORPHA:834
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Cholelithiasis, Wide anterior fontanel, Decreased body weight,...	OMIM:614886
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy...	OMIM:256550
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Digeorge Syndrome	Anemia, Patent ductus arteriosus, Cholelithiasis, Intervertebral disk degeneration, Hypoplasia of...	OMIM:188400
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:79303
Classic Galactosemia	Premature ovarian insufficiency, Reduced bone mineral density, Male infertility, Gait imbalance, ...	ORPHA:79239
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Bilateral cryptorchidism, Short stature, Failure to thrive, Lymp...	OMIM:616395
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Splenomegal...	OMIM:306400
Hypoglossia With Situs Inversus	Polysplenia, Asplenia	OMIM:612776
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Enlarged metaphyses, Short metacarpal, T lymphocytopenia, Lymphopen...	ORPHA:508533
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Increased circulating IgG level, Increased circulating IgA level, Failure to thrive, Para...	OMIM:615934
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Osteoporosis, Short stature, Bone marrow hypocellularity, Failure ...	OMIM:613989
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Dysphagia	ORPHA:1332
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Osteopenia, Delayed puberty, Abnormality of the endocrine system, Pr...	ORPHA:391487
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Osteopenia, Anemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Short stature...	OMIM:613990
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, B lymphocytopenia, Rectal abscess, Decreased circulating antibody level...	OMIM:601495
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Intrauterine growth retardation	ORPHA:563609
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Cholelithiasis, Abnormality of the tonsils, Hypoplasia of the thymus, Impaire...	ORPHA:567
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir...	OMIM:619232
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Hypoplasia of the small intestine, Ascites...	OMIM:200995
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Situs inversus totalis, Male infertility, Oligozoospermia, Reduced sperm mo...	OMIM:620438
Immunodeficiency 55	Postnatal growth retardation, Lymphadenopathy, Short stature, Lymphopenia, Intrauterine growth re...	OMIM:617827
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Familial Expansile Osteolysis	Thin bony cortex, Bowing of the long bones, Osteolysis	OMIM:174810
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carcinoma, Ente...	OMIM:300755
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Saul-Wilson Syndrome	Postnatal growth retardation, Short metatarsal, Cone-shaped epiphyses of the phalanges of the han...	OMIM:618150
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, High palate, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Lethal Congenital Contracture Syndrome Type 1	Short stature, Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone	ORPHA:1486
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L...	ORPHA:829
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Short metacarpal, Hypogonadism, Genu varum, Neutropenia, Abnormal ulnar metaphys...	ORPHA:221008
Cardiomyopathy, Familial Restrictive, 6	Hepatic artery hyperplasia, Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow ...	OMIM:127550
Icf Syndrome	Anemia, Decreased circulating antibody level, Short stature, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Enterocolitis, Thrombocytopenia, Splenomegaly, Reduced natural killer cell ...	OMIM:616050
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Hereditary Mixed Polyposis Syndrome	Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Rectal polyposis, A...	ORPHA:157794
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Gastriti...	ORPHA:809
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Renal cyst, Colon cancer, Juvenile ...	ORPHA:480536
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Renal insufficiency	ORPHA:28
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Hepatomegaly, Decreased circulating total IgM, Cholelithiasis, B ly...	ORPHA:83617
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Abnormal rectum morphology, Cleft palate, Anteriorly placed anus	OMIM:239300
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia, Bone marrow ...	ORPHA:811
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Intestinal p...	OMIM:147060
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Hepatomegaly, Duodenal stenosis	ORPHA:1759
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Cachexia, Leukopenia, Splenomegaly, Hypogonadism, Cra...	ORPHA:1328
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Papa Syndrome	Crohn's disease, Proteinuria, Lymphadenopathy	ORPHA:69126
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Hep...	ORPHA:60
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Gastrointestinal stroma...	ORPHA:1572
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Prolidase Deficiency	Hepatomegaly, Anemia, High palate, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocy...	OMIM:170100
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Fraser Syndrome 2	Unilateral renal agenesis, Hypoplasia of the thymus, Anal atresia, Intestinal malrotation, Renal ...	OMIM:617666
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Ascites, Splenomegaly, Proteinuria, Renal insufficiency	ORPHA:36412
Cystic Fibrosis	Cirrhosis, Steatorrhea, Elevated circulating hepatic transaminase concentration, Rectal prolapse,...	ORPHA:586
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Delayed puberty, Decreased response to growth hormone stimulation test, Prostatitis, Panhypogamma...	OMIM:307200
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Arthrogryposis, Distal, Type 2A	Flexion contracture of toe, Inguinal hernia, Shoulder flexion contracture, Elbow flexion contract...	OMIM:193700
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp...	OMIM:618433
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Galactosuria, Elevated circulating alanine ami...	OMIM:230400
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Ov...	ORPHA:249
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis	ORPHA:99812
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine	OMIM:252920
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Restrictive Dermopathy 2	Rectal prolapse, Gastroesophageal reflux	OMIM:619793
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Abcd Syndrome	Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis, Abnormal audito...	OMIM:600501
Autosomal Recessive Primary Microcephaly	Growth delay, Abnormal cortical bone morphology, Short stature	ORPHA:2512
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Protein-losing enteropathy, Melena, High, n...	ORPHA:79076
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Sple...	OMIM:606003
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Erectile dysfunction, Orthostatic hypotension, Sensorineural hearing impairment, Dy...	ORPHA:99027
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:214950
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chron...	ORPHA:98849
Sweeney-Cox Syndrome	Wide anterior fontanel, Short clavicles, 2-5 toe syndactyly, Bilateral cryptorchidism, Asplenia, ...	OMIM:617746
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing...	OMIM:300554
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow hypocellular...	ORPHA:549
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Renal insufficiency	ORPHA:2123
Mpi-Cdg	Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Protein-losing enteropathy, ...	ORPHA:79319
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Erectile dysfunction, Broad-based gai...	ORPHA:206448
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Abnormal ulnar metaphysis morphology, Osteopenia, Anemia, Aplasia/hypoplasia inv...	ORPHA:221016
Rothmund-Thomson Syndrome	Aplastic anemia, Hypoplasia of the ulna, Osteopenia, Reduced bone mineral density, Anemia, Metaph...	ORPHA:2909
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Proteus-Like Syndrome	Hyperostosis, Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroi...	ORPHA:2969
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly	ORPHA:99745
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ...	OMIM:610532
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Camptodactyly, Asplenia, Brachydactyly, Cryptorchidism, Abdominal...	OMIM:619123
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Purine Nucleoside Phosphorylase Deficiency	Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c...	ORPHA:760
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula...	OMIM:603553
Ebola Hemorrhagic Fever	Increased circulating antibody level, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopen...	ORPHA:319218
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Failure to thrive, Joi...	OMIM:616881
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony co...	OMIM:619638
Immunodeficiency 23	Increased circulating IgG level, Increased circulating IgE level, Failure to thrive, Increased ci...	OMIM:615816
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Abnormal circulating follicle-stimulating hormone concentration, An...	ORPHA:93325
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice	OMIM:243300
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Postnatal growth retardation, Genu valgum, Anemia, Metaphyseal sclerosis, Bowing of t...	OMIM:612199
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia, Lymphadenopathy	ORPHA:2221
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion...	OMIM:619381
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Ascites, Hydr...	OMIM:235255
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
Melkersson-Rosenthal Syndrome	Macroglossia, Oligosacchariduria, Lymphadenopathy, Furrowed tongue	ORPHA:2483
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Ataxia, Optic disc pallor	OMIM:619260
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Neutropenia, Lymphopenia	OMIM:614868
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Anemia, Abnormality of the medullary cavity of the long bones, Increased bone...	OMIM:127000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor	OMIM:617523
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, S...	ORPHA:100093
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia	ORPHA:276183
Hardikar Syndrome	Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, B...	OMIM:301068
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Hepatomegaly, High palate, Ketonuria	OMIM:619053
Monosomy 22	Hypochromic microcytic anemia, Clinodactyly of the 5th finger, Finger syndactyly, Clubbing, Hyper...	ORPHA:96123
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Asplenia, Hypothyroidism, Chronic hepatitis, Primary adrenal i...	OMIM:269200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Short Stature, Microcephaly, And Endocrine Dysfunction	Anemia, Disproportionate short-limb short stature, Hypothyroidism, Short stature, Diabetes mellit...	OMIM:616541
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Abnormality of the ureter	ORPHA:1133
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine	OMIM:252900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly...	OMIM:226300
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Cholestasis, Nephrotic syndrome, Proteinuria,...	ORPHA:85445
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Gastroesophageal reflux, Per...	OMIM:201475
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Asplenia, Hypothyroidism, Female hy...	OMIM:240300
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insufficiency, Ly...	ORPHA:139402
Cranio-Osteoarthropathy	Deviation of finger, Abnormal tibia morphology, Clubbing of toes, Abnormal cortical bone morphology	ORPHA:1525
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Sandal gap, B lymphocytopenia, 2-3 toe syndact...	OMIM:251260
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon...	OMIM:114000
Adams-Oliver Syndrome 5	Esophageal varix, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Hypersplenism	OMIM:616028
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Anaplastic Thyroid Carcinoma	Dysphagia, Lymphadenopathy, Tracheoesophageal fistula	ORPHA:142
Charcot-Marie-Tooth Disease Type 1F	Limb ataxia, Steppage gait, Decreased nerve conduction velocity, Inability to walk, Sensorineural...	ORPHA:101085
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Vici Syndrome	Postnatal growth retardation, Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG leve...	OMIM:242840
Ciliary Dyskinesia, Primary, 36, X-Linked	Chronic otitis media, Situs inversus totalis, Male infertility	OMIM:300991
Cockayne Syndrome Type 1	Optic atrophy, Scarring, Difficulty walking, Foot joint contracture, Absent brainstem auditory re...	ORPHA:90321
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Multicentric Osteolysis, Nodulosis, And Arthropathy	Thin metacarpal cortices, Broad metatarsal, Osteolysis involving tarsal bones, Osteoporosis, Shor...	OMIM:259600
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Short 4th metacarpal, Hip subluxation, Clubbing of fingers, Synostos...	ORPHA:221120
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Colitis, Chronic hepatitis, Villous atrophy	OMIM:614602
Wiedemann-Rautenstrauch Syndrome	Increased serum testosterone level, Slender long bone, Hypoplasia of the thymus, Hypoplastic ilia...	OMIM:264090
Neuroendocrine Tumor Of The Colon	Melena, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfecti...	ORPHA:100080
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Dysphagia, Splenomegaly, Heparan sulfate excretion in urine	OMIM:252930
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, High palate, Ascites, Hydr...	ORPHA:1655
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Tibial bowing, Femoral bowing, Short st...	OMIM:300009
Leprechaunism	Enlarged kidney, Hepatomegaly, Rectal prolapse, Long penis, Hypercalciuria, Nephrocalcinosis, Enl...	ORPHA:508
Malakoplakia	Hematuria, Neoplasm of the rectum, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Neop...	ORPHA:556
Reni Syndrome	Hypothyroidism, Hypogonadism, Lymphopenia, Cryptorchidism, Adrenal insufficiency	OMIM:617575
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase conce...	OMIM:605911
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Oculoskeletodental Syndrome	Hepatomegaly, Protein-losing enteropathy, Hypercalciuria, Mucopolysacchariduria, Splenomegaly, Ma...	OMIM:618440
Hennekam Syndrome	Lymphadenopathy, Finger syndactyly, Decreased circulating antibody level, Camptodactyly of finger...	ORPHA:2136
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Primary Ciliary Dyskinesia	Clubbing, Polysplenia, Asplenia	ORPHA:244
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Abno...	ORPHA:33226
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Decreased circulating antibody level, Leukoc...	OMIM:615688
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hydronephrosis, Elevated...	OMIM:620454
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Gastroesophageal reflux, Microvesicular hepatic s...	OMIM:615595
Mosaic Trisomy 9	Rocker bottom foot, Finger clinodactyly, Abnormal liver lobulation, Asplenia, Camptodactyly of fi...	ORPHA:99776
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Dubowitz Syndrome	Rectal prolapse, Anal stenosis, Anemia, Hypospadias, High palate, Acute lymphoblastic leukemia, H...	ORPHA:235
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Steatorrhea, Hepatocellular car...	ORPHA:186
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic transaminase conce...	ORPHA:781
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Patent ductus arteriosus, Pancytopenia, Short stature, Obesity, Thrombocytopenia, Leukope...	OMIM:620654
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circulating hepat...	ORPHA:50918
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Hematuria, Lymphadenopathy, Lymphopenia, Ascites, Neph...	ORPHA:93552
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619949
Fanconi-Bickel Syndrome	Hepatomegaly, Generalized aminoaciduria, Increased hepatic glycogen content, Renal tubular acidos...	ORPHA:2088
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Stüve-Wiedemann Syndrome	Abnormal metaphysis morphology, Osteopenia, Genu valgum, Abnormal cortical bone morphology, Bowin...	ORPHA:3206
Osteogenesis Imperfecta	Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Dislocated...	ORPHA:666
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Elevated circula...	OMIM:613070
Cowden Syndrome 1	Thyroiditis, Decreased circulating antibody level, Hypothyroidism, Ovarian cyst, Hyperthyroidism,...	OMIM:158350
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly	OMIM:619036
Aromatase Deficiency	Osteopenia, Male infertility, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Hype...	ORPHA:91
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Lymphadenopathy, Leukocytosis...	ORPHA:342
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,...	ORPHA:39812
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti...	ORPHA:100082
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Bloom Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Decreased circulating IgA level, Gr...	OMIM:210900
Noonan Syndrome 14	Short stature, Hyperhidrosis, Lymphopenia, Cryptorchidism, Clinodactyly	OMIM:619745
Campomelia, Cumming Type	Hepatomegaly, Abnormal intestine morphology, Pancreatic cysts, Cleft palate, Multiple renal cysts...	ORPHA:1318
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Cirrhosis, Reduced bone mineral density, Anemia, Pancytopenia, Cholestasis, ...	OMIM:613658
Khan-Khan-Katsanis Syndrome	Anemia, Postaxial polydactyly, Failure to thrive, Short stature, Patent ductus arteriosus after p...	OMIM:618460
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi...	OMIM:216400
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria, Splenomegaly, P...	ORPHA:77297
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ...	ORPHA:231214
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly	ORPHA:3035
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir...	OMIM:301000
Acute Radiation Syndrome	Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Reynolds Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Ascites, Abnormal gastric mucosa morp...	ORPHA:779
Mcleod Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Splenomegaly, Elevated...	OMIM:300842
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomegaly, Splenome...	OMIM:602782
Absent Radius-Anogenital Anomalies Syndrome	Anal atresia, Perineal fistula, Rectal atresia, Rectovaginal fistula	ORPHA:3016
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus, Patent ductus arteriosus, Intrauterine grow...	ORPHA:3384
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic ste...	OMIM:261680
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Short stature, Toe syndactyly, Patent ductus arteriosus, Asplenia	OMIM:619657
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cysts, Stage 5...	OMIM:613095
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Gastroesophageal reflux, Hilar lymph node enlargement,...	OMIM:620233
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperglycinuria, Elevated ...	OMIM:201450
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Functional abnormality of the gastroint...	ORPHA:90051
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Functional abnormality of the gastrointestinal trac...	ORPHA:29073
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Midgut malrotation, Chroni...	ORPHA:100079
Avian Influenza	Thrombocytopenia, Leukopenia, Hepatitis, Lymphopenia	ORPHA:454836
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intesti...	OMIM:617718
Cerebrotendinous Xanthomatosis	Osteopenia, Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentia...	ORPHA:909
Generalized Pustular Psoriasis	Obesity, Overweight, Leukocytosis, Lymphopenia	ORPHA:247353
Immunodeficiency 87 And Autoimmunity	Cholestasis, Ascites, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Jaundice, Cleft pa...	OMIM:619573
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Thrombocytosis	ORPHA:2905
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Spermatogenic Failure 77	Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia	OMIM:620103
Cockayne Syndrome B	Optic atrophy, Severe failure to thrive, Decreased nerve conduction velocity, Sensorineural heari...	OMIM:133540
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Situs inversus totalis, Male infertility, Recurrent otitis media	OMIM:612444
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix...	ORPHA:309854
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase co...	OMIM:613471
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly, Splenomegaly	OMIM:617388
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Fusariosis	Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lymphopenia, Abno...	ORPHA:228119
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Aminoaciduria	OMIM:239200
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Cranial hyperostosis, Clinodactyly of the 5th finger, Abnormal di...	ORPHA:2710
Hereditary Elliptocytosis	Postnatal growth retardation, Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonge...	ORPHA:288
Neuroendocrine Tumor Of Stomach	Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficien...	ORPHA:100075
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Feingold Syndrome 1	Annular pancreas, Accessory spleen, 2-3 toe syndactyly, Asplenia, 4-5 toe syndactyly, Short middl...	OMIM:164280
Carney Triad	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Ascites, Gastr...	ORPHA:139411
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph...	ORPHA:2658
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder...	ORPHA:449395
Meckel Syndrome, Type 1	Radial deviation of finger, Accessory spleen, Adrenal hypoplasia, Postaxial hand polydactyly, Bow...	OMIM:249000
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality...	ORPHA:79330
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperphosphatu...	OMIM:616026
Igg4-Related Submandibular Gland Disease	Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, R...	ORPHA:449432
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Villous atrophy, Cholestasis, Incre...	OMIM:222470
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Leukocytosis, Portal hypertension, Por...	ORPHA:729
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Dysphagia, Hepatic steatosis, Jaun...	OMIM:277900
Whim Syndrome	Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil morphology, L...	ORPHA:51636
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, High palate, Nephrotic syndrome, Prolonged neonatal jaundi...	ORPHA:499009
Ciliary Dyskinesia, Primary, 18	Situs inversus totalis, Male infertility, Recurrent otitis media, Immotile sperm	OMIM:614874
Osteogenesis Imperfecta, Type Xviii	Generalized osteoporosis, Femoral bowing, Bowing of the long bones, Thin bony cortex	OMIM:617952
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella	OMIM:620197
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Dec...	OMIM:613848
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Gastroesophageal reflux, Thrombocytopenia, Splenomegaly, Dysphagia	OMIM:230900
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic ...	OMIM:557000
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Hepatic failure	ORPHA:97287
Polymerase Proofreading-Related Adenomatous Polyposis	Adenocarcinoma of the colon, Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal po...	ORPHA:447877
Cushing Disease	Decreased eosinophil count, Increased urinary cortisol level, Increased body weight, Leukocytosis...	ORPHA:96253
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Hypospadias, Abnormal rectum morphology, Abnormality of the anus, Abnormal penis morp...	ORPHA:2556
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Postaxial hand polydactyly, Bowing of the long bones, Aspl...	ORPHA:564
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Male infertility, Reduced sperm motility, Otitis media, Immotile sperm	OMIM:613807
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Anorectal anomaly, Esophageal stenosis...	ORPHA:1775
H Syndrome	Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Histiocytosis, Microcytic anemia	ORPHA:168569
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Patent ductus arteriosus, Asplenia	ORPHA:210122
Ring Chromosome Y Syndrome	Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Obesity, Female infer...	ORPHA:261529
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Increased fecal coproporphyrin 1, Thrombocytop...	OMIM:263700
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Heterotaxy, Visceral, 1, X-Linked	Abdominal situs inversus, Hepatomegaly, Biliary atresia, Short long bone, Congenital hip dislocat...	OMIM:306955
Shwachman-Diamond Syndrome 1	Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transamin...	OMIM:260400
Spondyloocular Syndrome	Osteopenia, Femur fracture, Decreased body weight, Unilateral cryptorchidism, Short stature, Arac...	OMIM:605822
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ...	OMIM:609136
Right Atrial Isomerism	Abdominal situs ambiguus, Polysplenia, Asplenia	OMIM:208530
Trisomy 10P	EEG with burst suppression, Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked pote...	ORPHA:171929
Familial Mediterranean Fever	Hepatomegaly, Crohn's disease, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peri...	OMIM:249100
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Gastroesophageal reflux, Renal artery stenosis, High palate, Renal hypoplasia, Nephrocalcinosis, ...	OMIM:617913
Williams Syndrome	Hypoplasia of penis, Tracheoesophageal fistula, Nephrocalcinosis, Multiple renal cysts, Urethral ...	ORPHA:904
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Neoplasm of the rectum, Stomach cancer, He...	ORPHA:440437
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Overlapping fingers, Lymphopenia	OMIM:619708
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:608885
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pa...	ORPHA:97261
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Acute myeloid leukemia, Neoplasm of the rectum, Colorectal polyposis, S...	ORPHA:524
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Ileus	ORPHA:163746
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Penile Agenesis	Rectal fistula, Hydroureter, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia, Absent p...	ORPHA:49
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Wide anterior fontanel, Short long bone, Bowing of the long bones,...	OMIM:249420
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Asc...	ORPHA:538
Argininemia	Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Oroticaciduria, Cholestasis...	OMIM:207800
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Neoplasm of the rectum, Colon cancer, Adenomatous colonic polyposis, D...	ORPHA:454840
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hypothyroidism, Hypothyroidism...	OMIM:620186
Heterotaxy, Visceral, 2, Autosomal	Abdominal situs inversus, Polysplenia, Asplenia	OMIM:605376
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Male infertility, Recurrent otitis media, Dextrocardia	OMIM:619607
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Short stature, Long fingers, Long hallux, ...	OMIM:309583
Aicardi-Goutieres Syndrome 7	Hematemesis, Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Nephrotic syndrome, Thrombocytopenia,...	OMIM:615846
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Sple...	OMIM:610717
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphope...	ORPHA:99889
Lujo Hemorrhagic Fever	Fulminant hepatitis, Leukocytosis, Hyperhidrosis, Thrombocytopenia, Leukopenia, Lymphopenia	ORPHA:319213
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Parotitis, Increased B cell count, Cholestasis, Increased T cell ...	OMIM:620376
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Elevated circula...	ORPHA:3260
Williams-Beuren Syndrome	Rectal prolapse, Gastroesophageal reflux, Renal insufficiency, Hypercalciuria, Pelvic kidney, Ves...	OMIM:194050
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlarged epiphyses, Sparse bone trabeculae, Metaphyseal...	ORPHA:1652
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Increased circ...	ORPHA:289390
Brucellosis	Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormality of the gastrointestinal tract, ...	ORPHA:1304
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Nephrolithiasis, ...	ORPHA:797
Spermatogenic Failure 14	Male infertility, Round spermatid arrest, Azoospermia	OMIM:615842
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating antibody level, Secondary hyperaldosteronism, Lymphopenia, Decre...	ORPHA:90363
Arima Syndrome	Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Tubulointerstitial fibros...	OMIM:243910
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology	ORPHA:83451
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Proportionate short stature, Sh...	OMIM:277600
Aspartylglucosaminuria	Hepatomegaly, Abnormal cortical bone morphology, Abnormal morphology of ulna, Splenomegaly, Macro...	ORPHA:93
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia	OMIM:618086
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morphology, Pancytopenia, Hype...	OMIM:181000
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Vestibular areflexia, Absent brainstem auditory responses	ORPHA:3240
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis	ORPHA:32960
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Renal hypoplasia, Rectal prolapse, High palate, Gastroesophageal reflux	OMIM:617157
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Stomach cancer, Decreased proporti...	ORPHA:331235
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Leukopenia, Splenomegaly, T...	OMIM:222700
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration rate, Hematuria, Hepatocellul...	OMIM:232240
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pa...	ORPHA:97278
Tetraamelia Syndrome 1	Hypoplastic pelvis, Asplenia, Adrenal gland agenesis	OMIM:273395
Proteus Syndrome	Macrodactyly, Cachexia, Abnormal finger morphology, Calvarial hyperostosis, Lymphangioma, Splenom...	ORPHA:744
Weill-Marchesani Syndrome 2	Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Short me...	OMIM:608328
Lysinuric Protein Intolerance	Steatorrhea, Argininuria, Elevated circulating hepatic transaminase concentration, Decreased glom...	ORPHA:470
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Somatostatinoma	Intestinal obstruction, Gastrointestinal hemorrhage, Intrahepatic cholestasis, Hepatomegaly, Neop...	ORPHA:97283
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis, Male infertility, Recurrent otitis media	OMIM:614935
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent infection of the gastrointestinal tract, Splenomegaly	OMIM:612132
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog...	ORPHA:2769
Crimean-Congo Hemorrhagic Fever	Hematemesis, Jaundice, Hepatomegaly, Lymphadenopathy, Hematuria, Pancytopenia, Melena, Parotitis,...	ORPHA:99827
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati...	OMIM:608594
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Mend Syndrome	Abnormal auditory evoked potentials, Low-set ears, Aortic valve stenosis, Failure to thrive, Abno...	ORPHA:401973
Spermatogenic Failure 13	Male infertility, Azoospermia	OMIM:615841
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Coccidioidomycosis	Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Abnormality of the spleen, Peritoniti...	ORPHA:228123
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Aganglionic megacol...	ORPHA:653
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati...	OMIM:269700
Hypermobile Ehlers-Danlos Syndrome	Rectal prolapse, High, narrow palate, Anorectal anomaly, Gastroesophageal reflux, Pelvic organ pr...	ORPHA:285
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Increased circulating antibody level, Neutrophilia in pr...	ORPHA:99826
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Rectovestibular fistula, Anal stenosis, Hydroureter, Congenital megaureter, Gastroesophageal refl...	ORPHA:280633
Lynch Syndrome	Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal polypo...	ORPHA:144
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Patent ductus arteriosus, Intrauterine growth retardation, Abdominal situs ambiguus, Ab...	OMIM:270100
Faciocardiomelic Syndrome	Polydactyly, Osteopenia, Large for gestational age, Slender long bone, Hypoplastic pelvis, Thin b...	OMIM:612731
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Splenomegaly, Abnormality of the liv...	ORPHA:90340
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Broad ischia, Short stature, Broad femoral neck, Short palm, Metaphyseal dy...	OMIM:619727
Mismatch Repair Cancer Syndrome 3	Colon cancer, Neoplasm of the rectum	OMIM:619097
Cherubism	Narrow palate, Submandibular lymph node enlargement	OMIM:118400
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Thrombocyto...	ORPHA:509
Classical Ehlers-Danlos Syndrome	Gastroesophageal reflux, Rectal prolapse, Bladder diverticulum, Hiatus hernia	ORPHA:287
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:229600
Orofaciodigital Syndrome Type 4	High, narrow palate, Rectovaginal fistula, Perineal fistula, Anal atresia, Bifid uvula, Cleft pal...	ORPHA:2753
Plague	Hematemesis, Hepatomegaly, Glossitis, Lymphadenitis, Inflammation of the large intestine, Enteroc...	ORPHA:707
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Charge Syndrome	Hypoplasia of the ulna, Delayed puberty, Decreased response to growth hormone stimulation test, P...	OMIM:214800
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Lymphadenopathy, Xerostomia, Abnormality of the submandibular...	ORPHA:79078
Igg4-Related Ophthalmic Disease	Pancreatitis, Cholangitis, Lymphadenopathy, Sialadenitis, Colon cancer, Eosinophilia, Retroperito...	ORPHA:449563
Coffin-Lowry Syndrome	Narrow palate, Rectal prolapse, High palate	OMIM:303600
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Parotitis...	OMIM:256040
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Glossitis, Leukocytosis, Proteinuria, Strawberry tongue, Ster...	ORPHA:2331
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Male infertility, Oligozoospermia	ORPHA:48
Behçet Disease	Gastrointestinal hemorrhage, Pancreatitis, Lymphadenopathy, Splenomegaly, Renal insufficiency	ORPHA:117
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Annular pancreas, Patent ductus arteriosus, Pulmonary lymphangiectasia, Asplenia	OMIM:265380
Leukocyte Adhesion Deficiency, Type I	Rectal abscess, Leukocytosis	OMIM:116920
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Genu valgum, Right unicoronal synostosis, Hallux valgus, Decreased circulating antibody level, Ca...	ORPHA:261537
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
Microphthalmia, Syndromic 1	Rectal prolapse, Aganglionic megacolon, Hydroureter, Hypospadias, High, narrow palate, High palat...	OMIM:309800
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatomegaly, Hypospadias, Rectovaginal fistula, Anteriorly placed anus...	OMIM:243800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Genu valgum, Right unicoronal synostosis, Hallux valgus, Decreased circulating antibody level, Ca...	ORPHA:261552
Partial Androgen Insensitivity Syndrome	Male infertility, Azoospermia, Insulin insensitivity, Male sexual dysfunction, Primary amenorrhea	ORPHA:90797
Mowat-Wilson Syndrome	Genu valgum, Hallux valgus, Decreased circulating antibody level, Decreased body weight, Calcaneo...	ORPHA:2152
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Hepatosplenomegaly, Splenomegaly, ...	ORPHA:3385
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Sacral Defect With Anterior Meningocele	Rectal abscess, Neurogenic bladder, Urinary retention	OMIM:600145
Carney Complex	Esophageal neoplasm, Neoplasm of the stomach, Neoplasm of the pancreas, Neoplasm of the rectum, H...	ORPHA:1359

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 Tle4

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 Tle4.

No publications found that use IMPC mice or data for Tle4.

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MGI Allele	Allele Type	Produced
Tle4^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Tle4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tle4 MGI:104633

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

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X-ray

X-ray

Human diseases caused by Tle4 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data