Genes Phenotypes Help, News, Blog

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

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
abnormal cholesterol homeostasis	Tle4^em1(IMPC)Mbp	HOM	Early adult	7.28×10^-05
decreased locomotor activity	Tle4^em1(IMPC)Mbp	HOM	Early adult	1.52×10^-05
enlarged lymph nodes	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney 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 lymph node morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased prepulse inhibition	Tle4^em1(IMPC)Mbp	HOM	Early adult	7.59×10^-05
abnormal auditory brainstem response	Tle4^em1(IMPC)Mbp	HOM	Early adult	3.00×10^-06
decreased heart weight	Tle4^em1(IMPC)Mbp	HOM	Early adult	3.14×10^-05
enlarged liver	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
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
abnormal eye morphology	Tle4^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased lean body mass	Tle4^em1(IMPC)Mbp	HOM	Early adult	1.72×10^-10
abnormal liver morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal rectum morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00
impaired glucose tolerance	Tle4^em1(IMPC)Mbp	HOM	Early adult	7.75×10^-06
abnormal skin morphology	Tle4^em1(IMPC)Mbp	HOM	Late adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

66 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

View images

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 (1091 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, Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	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	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy...	OMIM:617241
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Failure to thrive, Reduced natural killer cell activity, Decreas...	OMIM:300400
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, 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	Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Immunodeficiency 104	Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia	OMIM:608971
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Adenocarcinoma Of The Esophagus	Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma	ORPHA:99976
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin...	OMIM:617514
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l...	ORPHA:100024
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	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, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Mirage Syndrome	Radial club hand, Lymphopenia, Overlapping fingers, Leukopenia, Adrenal insufficiency, Cryptorchi...	OMIM:617053
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ...	OMIM:615401
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Failure to thrive, Decreased skull ossification, Brachydact...	OMIM:602361
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Abnormal limb bone morphology, Hepatomegaly, Inc...	ORPHA:2204
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the spleen, Abnormali...	ORPHA:543
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay	OMIM:619164
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:612782
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lack of T cell function, Increased circ...	ORPHA:277
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Immunodeficiency 48	Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho...	OMIM:269840
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno...	ORPHA:2869
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m...	OMIM:613501
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein...	OMIM:620010
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomeg...	OMIM:620210
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Weismann-Netter Syndrome	Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b...	ORPHA:3344
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Lissencephaly Syndrome, Norman-Roberts Type	Intrauterine growth retardation, Rocker bottom foot, Hypoplastic spleen, Adducted thumb	ORPHA:89844
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch...	ORPHA:79301
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly, Aminoaciduria	ORPHA:79238
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly, Aminoaciduria	ORPHA:417
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ...	OMIM:619350
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis	ORPHA:401911
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ...	OMIM:615767
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Kerion Celsi	Lymphadenopathy	ORPHA:499
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t...	OMIM:615617
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Intestinal lymphangiectasia, Postnatal growth retardation, Splen...	OMIM:620632
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia...	OMIM:602450
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Clinodactyly, Failure to thrive, Abnormal circulating IgM...	OMIM:618048
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG l...	OMIM:618982
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Coproporphyria, Hereditary	Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Elevated urinary delta-a...	OMIM:121300
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Type I diabetes mellitus, Hemophago...	OMIM:301078
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Growth arrest lines, Abnormal pelvic girdle bone morphology, Failure ...	OMIM:102700
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia...	OMIM:208900
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Growth delay, Lymphopenia, Decreased circulating IgA level, Sple...	OMIM:616005
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Spleno...	OMIM:612541
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Decreased circulating antibody level, Splenomegaly, Lym...	ORPHA:397596
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Intestinal obstruction, Lymphadenopathy, Abnormal p...	ORPHA:26790
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Interfac...	OMIM:243150
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Wolman Disease	Acute hepatic failure, Hepatomegaly, Splenomegaly	OMIM:620151
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,...	OMIM:601457
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans...	OMIM:619707
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co...	OMIM:613101
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ...	OMIM:613490
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Reduced delayed hypersen...	OMIM:242700
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Adenocarcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopath...	ORPHA:424016
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce...	OMIM:308240
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix	ORPHA:75234
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Ascite...	ORPHA:2198
Roifman Syndrome	Epiphyseal dysplasia, Short toe, Postnatal growth retardation, Hepatosplenomegaly, Intrauterine g...	ORPHA:353298
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia...	OMIM:112200
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Intrauterine growth retardation, Decreased circulating antibody level...	OMIM:616910
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Hamar...	ORPHA:251992
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Intrauterine growth retardation, Cryptorchidism, Hypoplasia of the thymus, Hep...	OMIM:214110
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio...	ORPHA:169154
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Adrenal insuf...	OMIM:609981
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice	OMIM:618881
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Harderoporphyria	Increased fecal harderoporphyrin, Increased urinary porphobilinogen, Splenomegaly, Red urine, Ret...	OMIM:618892
Spermatogenic Failure 17	Male infertility	OMIM:617214
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperosto...	OMIM:176920
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility, Sensorineural hearing impairment	OMIM:608653
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Ravine Syndrome	Decreased body weight, Abnormal auditory evoked potentials, Failure to thrive, Ataxia	ORPHA:99852
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ...	OMIM:613313
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Multiple renal cysts, Hepatomegaly, Polycys...	ORPHA:2924
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly, Pyloric stenosis	ORPHA:664
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Fail...	ORPHA:289157
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ac...	ORPHA:131
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Recurrent otitis media, Microcephalic sperm head, Redu...	OMIM:301101
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Th...	OMIM:231095
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Bilateral senso...	OMIM:611102
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level, ...	ORPHA:98813
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Alaninuria, Elevated...	OMIM:615158
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ...	OMIM:300635
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Postnatal growth r...	OMIM:620603
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab...	OMIM:601847
Heme Oxygenase 1 Deficiency	Nephritis, Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614034
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Long thumb, Acute myeloid leukemia, A...	OMIM:619151
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Type I diabetes mellitus, Failure to thrive, Pancytopenia, Decre...	OMIM:614700
Klatskin Tumor	Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Colon cancer, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Leukodystrophy, Hypomyelinating, 24	Severe short stature, Hypothyroidism, B lymphocytopenia	OMIM:619851
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Familial Papillary Or Follicular Thyroid Carcinoma	Colon cancer, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Type II diabetes mellitus, Poly...	ORPHA:100
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly	ORPHA:77260
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u...	ORPHA:3416
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatosplenomegaly, Hemolytic an...	OMIM:618935
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai...	OMIM:615592
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Cystic Fibrosis	Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Rectal prolapse,...	OMIM:219700
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality...	ORPHA:33355
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Decreased specifi...	OMIM:606367
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu...	ORPHA:2790
Bone Marrow Failure Syndrome 6	Osteopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Syndromic Diarrhea	Hepatic fibrosis, Small for gestational age, Panhypogammaglobulinemia, Lymphopenia, Abnormality o...	ORPHA:84064
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El...	OMIM:613812
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Abnormality of the ureter, Rect...	OMIM:175200
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Desmoplastic Small Round Cell Tumor	Ascites, Ileus, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Mediastina...	ORPHA:83469
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Short stature	ORPHA:3204
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, Intrauterine growth retardation, Overlapping fingers, B ...	OMIM:615966
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Abnormality of the calcaneus, Aplasia/hypo...	ORPHA:40366
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Splenomegaly, Foll...	OMIM:603909
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly,...	OMIM:616100
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells, Esophageal ...	ORPHA:75233
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Glossoptosis	OMIM:614876
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:616589
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Disproportionate short stature, Hypoplasia of the capital femoral epiphysis...	OMIM:617425
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat...	ORPHA:169160
Lethal Congenital Contracture Syndrome 10	Overlapping fingers, Femoral bowing, Intrauterine growth retardation, Hypoplasia of the thymus, A...	OMIM:617022
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Rhizomelia, Leukopenia, Thrombocytopenia, Anemia, Decreased circulat...	OMIM:618116
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Lymphopenia, Cryptorchidism, Patent ductus arteriosus, Severe postnatal growth retard...	OMIM:620005
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea...	OMIM:278000
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon...	ORPHA:1215
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Lymphopenia, Proximal placement of thumb, ...	OMIM:618624
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
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic...	ORPHA:970
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, H...	ORPHA:699
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Protein-losing enteropathy, Villous atro...	OMIM:602579
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Roifman Syndrome	Short toe, Postnatal growth retardation, Irregular femoral epiphysis, Intrauterine growth retarda...	OMIM:616651
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:617960
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Sensorineural hearing impairment, Absent brainstem auditory responses,...	OMIM:617519
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal urinary electrolyte c...	ORPHA:85450
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Neoplasm of th...	ORPHA:100026
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,...	OMIM:263200
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal...	ORPHA:54251
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Anemia, Rectal prolapse	ORPHA:209964
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hyperostosis, Chr...	ORPHA:906
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Split hand, Short stature, Foot polydactyly, Phocomelia	ORPHA:3004
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra...	ORPHA:234
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Malfo...	OMIM:208540
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor...	OMIM:600785
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Deafness-Infertility Syndrome	Azoospermia, Male infertility, Sensorineural hearing impairment	ORPHA:94064
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal spermatogenesis	ORPHA:1646
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Spermatogenic Failure 63	Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619528
Immunodeficiency With Hyper-Igm, Type 4	Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Absence of lymph ...	OMIM:608184
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat...	OMIM:600802
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Short humerus, R...	ORPHA:508542
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Schimke Immunoosseous Dysplasia	Osteopenia, Shallow acetabular fossae, Elevated circulating thyroid-stimulating hormone concentra...	OMIM:242900
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233710
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno...	OMIM:610333
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff...	ORPHA:91138
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, 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	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Osteopenia, Thym...	ORPHA:227990
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Ascites, Renal insufficiency, Hepatomega...	ORPHA:890
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly...	ORPHA:824
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst, Decreased liver function	OMIM:614870
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility	OMIM:618110
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Elevated circulating hepatic transaminase concentration, Leukopenia, Vesicoureteral r...	OMIM:301056
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio...	ORPHA:83471
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Thin bony cortex, Hepatomegaly, Patent d...	OMIM:230600
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Cla...	OMIM:601455
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	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	Small hand, Clubbing of toes, Abnormal epiphysis morphology, Osteolysis, Abnormal cortical bone m...	ORPHA:2796
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Osteopenia, Thym...	ORPHA:227982
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Microgastria, Gastroesophageal reflux, Horseshoe kidney, Abnormalit...	ORPHA:2538
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Persistent Mullerian Duct Syndrome, Types I And Ii	Inguinal hernia, Male infertility	OMIM:261550
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase concentration, M...	OMIM:257200
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Immunodeficiency 40	Focal active colitis, Elevated circulating aspartate aminotransferase concentration, Elevated cir...	OMIM:616433
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233690
Babesiosis	Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J...	ORPHA:108
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome, Hi...	OMIM:269920
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob...	ORPHA:1333
Metatropic Dysplasia	Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Cam...	ORPHA:2635
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Osteopenia, Reduced natural killer cell count, Short distal phala...	ORPHA:221139
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation	OMIM:600546
Castleman Disease	Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Intestinal obstruction, Hematu...	ORPHA:160
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Schimke Immuno-Osseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Abnormal lymphocyte physiology, Disproportionate short-tr...	ORPHA:1830
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ...	OMIM:613489
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Abnormal metaphysis morphology, Agammaglobulinemia, Long fibula, Anemia, Reduced bon...	ORPHA:935
American Trypanosomiasis	Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Hepatomegaly	ORPHA:3386
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Inflammation of the large intestine, Lymphocytic infiltration of the colorect...	ORPHA:436159
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Azoospermia, Male infertility	OMIM:619145
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Decreased proportion of CD4...	ORPHA:443811
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Incre...	ORPHA:369
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:602390
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Hemochromatosis, Type 3	Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Anemia	OMIM:604250
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, High palate, Splenomegaly	OMIM:615637
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody lev...	OMIM:617591
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Postnatal growth retardation,...	ORPHA:2169
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Ck Syndrome	Slender build, Abnormal cortical bone morphology, Abnormal digit morphology	OMIM:300831
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ...	ORPHA:2097
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Radiation Proctitis	Hematochezia, Abnormal rectum morphology, Intestinal obstruction, Rectal fistula, Abnormal gastro...	ORPHA:70475
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Gastroesophageal reflux, Splenomegaly	ORPHA:2414
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Spermatogenic Failure 32	Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Male infertility	OMIM:619831
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Pyle Disease	Genu valgum, Thin bony cortex, Metaphyseal widening, Metaphyseal dysplasia, Reduced bone mineral ...	OMIM:265900
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reti...	ORPHA:90038
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Anemia, Eosinophilia,...	OMIM:304790
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Abnormal rectum morphology	ORPHA:101009
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Microphthalmia, Syndromic 9	Severe short stature, Multilobulated spleen, Intrauterine growth retardation, Cryptorchidism, Sho...	OMIM:601186
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l...	OMIM:612301
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, ...	ORPHA:79456
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Narrow palate, Intestinal lymphangiectasia, Horseshoe kidney, Vesicou...	OMIM:235510
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D...	ORPHA:90362
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Decreased liver function, Ascites, Hepatosplenomegaly, Hypersplenism...	ORPHA:98850
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:264700
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Treacher-Collins Syndrome	Failure to thrive, Cryptorchidism, Abnormality of bone mineral density, Hypoplasia of the thymus,...	ORPHA:861
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Failu...	OMIM:277440
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ...	ORPHA:158057
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Leuko...	OMIM:615190
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of...	OMIM:618223
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Intrauterine growth...	OMIM:620133
Coach Syndrome 1	Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat...	OMIM:216360
Sézary Syndrome	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Macrophage Activation Syndrome	Hepatitis, Decreased liver function, Hemophagocytosis, Elevated circulating aspartate aminotransf...	ORPHA:158061
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Sialidosis Type 2	Hepatomegaly, Nephropathy, Splenomegaly, Ascites	ORPHA:87876
Osteogenesis Imperfecta, Type Xxii	Slender long bone, Decreased circulating osteocalcin level, Intrauterine growth retardation, Bowi...	OMIM:619795
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono...	ORPHA:486
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Osteopenia, Sandal gap, Hypoplasia of the thymus, Adrenal hypoplasia, Growth delay	OMIM:613177
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly	ORPHA:79312
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Immunodeficiency 31C	Osteopenia, Growth delay, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia...	OMIM:614162
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ...	ORPHA:2930
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc...	ORPHA:848
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Lymphopenia, Leukopenia, Neutropenia, Short long bone, Anemia, Sc...	OMIM:301110
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Growth delay, Fib...	OMIM:600081
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas...	ORPHA:2137
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Rectal atresia, Anal atresia	OMIM:613390
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Horseshoe kidney, Intestinal malrotation, Vesicoure...	OMIM:115470
Juvenile Polyposis Syndrome	Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Anemia, Neoplasm...	OMIM:174900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Intestinal obstruct...	ORPHA:44890
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Abnormality of ...	ORPHA:33276
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	2-3 toe syndactyly, Lymphopenia, Short stature	ORPHA:391307
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impaired T cell fun...	OMIM:613179
Macrocephaly/Autism Syndrome	Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomegaly, Decreased circulatin...	OMIM:605309
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Upper limb undergrowth, Abnormal cortical bone morphology, Short stature, Short...	ORPHA:166277
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Intrauterine growth retardation, Short thumb, Postnatal growth retar...	OMIM:609054
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro...	ORPHA:293978
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He...	ORPHA:480520
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Decreased liver function, Extramedullary hematopoiesis, Per...	ORPHA:231222
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Abnormal femur morphology, Osteolysis involving bones of the u...	ORPHA:73
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Alg12-Cdg	Sandal gap, Failure to thrive, Abnormal circulating IgM level, Overlapping fingers, Complete or n...	ORPHA:79324
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Cartilage-Hair Hypoplasia	Metaphyseal cupping, Abnormal pelvic girdle bone morphology, Absent pubertal growth spurt, Neonat...	OMIM:250250
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocy...	OMIM:620365
Spondyloenchondrodysplasia With Immune Dysregulation	Short iliac bones, Lymphopenia, Metaphyseal sclerosis, Sclerosis of skull base, T lymphocytopenia...	OMIM:607944
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Decreased liver function	ORPHA:570422
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin...	OMIM:241530
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Intrauterine growth retardation, Autoimm...	ORPHA:436252
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:612126
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Eec Syndrome	Toe syndactyly, Xerostomia, Finger syndactyly, Ectrodactyly, Decreased response to growth hormone...	ORPHA:1896
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom...	OMIM:615630
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, Anemia, Inc...	OMIM:620366
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Isochromosomy Yp	Azoospermia, Male infertility	ORPHA:98797
Chronic Granulomatous Disease	Pyloric stenosis, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophi...	ORPHA:379
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palate	ORPHA:85212
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome	ORPHA:834
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Abnormal cortical bone morphology, Decreased body weight, Short stature, Growth d...	OMIM:614886
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid...	OMIM:256550
Mohr-Tranebjaerg Syndrome	Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Abnormality of somato...	ORPHA:52368
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Obesity, Splenomegaly, Interver...	OMIM:188400
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces...	ORPHA:2686
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E...	ORPHA:79303
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Intrauterine growth retardation, Increa...	OMIM:616395
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Classic Galactosemia	Hypoglycemia, Gait imbalance, Primary amenorrhea, Lethargy, Gait disturbance, Decreased fertility...	ORPHA:79239
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Re...	ORPHA:83313
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Peritonitis, Lymphadenopathy, Hepatomegaly	ORPHA:343
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA lev...	OMIM:615934
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Failure to thrive, Pancytopenia, ...	OMIM:613989
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Dysphagia, Lymphadenopathy	ORPHA:1332
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Type I diabetes mellitus, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemo...	ORPHA:391487
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Growth delay, Avascular necrosis of the...	OMIM:613990
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, ...	OMIM:601495
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Isolated Anencephaly	Intrauterine growth retardation, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
22Q11.2 Deletion Syndrome	Cholelithiasis, Failure to thrive, Multiple suture craniosynostosis, Impaired T cell function, Ob...	ORPHA:567
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp...	OMIM:200995
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,...	OMIM:618549
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Situs inversus totalis, Reduced progressive sperm motility, Short ...	OMIM:620438
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar...	OMIM:617827
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Chro...	OMIM:615607
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp...	OMIM:300755
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Overtubulated long bones, Fla...	OMIM:618150
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, High palate	OMIM:619750
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Lethal Congenital Contracture Syndrome Type 1	Short stature, Abnormal hip bone morphology, Abnormal cortical bone morphology, Slender long bone	ORPHA:1486
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Difficulty walking, Decreased nerve c...	ORPHA:206443
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Cardiomyopathy, Familial Restrictive, 6	Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia	OMIM:619433
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Patellar aplasia, Cryptorchidism, Neutropenia, Leukemia, Genu varum, Short metac...	ORPHA:221008
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th...	OMIM:616050
Icf Syndrome	Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circulating antibody level, Short stature	ORPHA:2268
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Absence of lymph node germinal center, Splenomegaly, Sclerosing cholangitis, Enlarged ...	OMIM:308230
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Hereditary Mixed Polyposis Syndrome	Hematochezia, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Hyperplastic ...	ORPHA:157794
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Gastroesophageal reflux, Xerostomia, Gastrointestinal h...	ORPHA:809
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas...	ORPHA:480536
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Ascites, Splenomegaly, Cardiomegaly, Cir...	OMIM:235200
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Renal insufficiency	ORPHA:28
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Postnatal gro...	ORPHA:83617
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Abnormal rectum morphology, Anteriorly placed anus, Cleft palate	OMIM:239300
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Colonic diverticula, Gastroesophageal reflux, Increased hepatic echogenicity, Gastric ulcer, Esop...	OMIM:147060
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu...	ORPHA:811
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re...	OMIM:224120
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Papa Syndrome	Proteinuria, Lymphadenopathy, Crohn's disease	ORPHA:69126
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab...	ORPHA:1451
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Camurati-Engelmann Disease	Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Metaphyseal dysplasia, Abnormal ...	ORPHA:1328
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Nephrotic syndrome, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, H...	ORPHA:60
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Elevated circulating hepatic tran...	OMIM:614576
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j...	OMIM:170100
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Intestinal malrotation, Hypoplasi...	OMIM:617666
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Hypocomplementemic Urticarial Vasculitis	Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Lymphadenopathy, Hepatomegaly	ORPHA:36412
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Abnormal metaphysis m...	ORPHA:2484
Cystic Fibrosis	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Meconium ileus,...	ORPHA:586
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation...	OMIM:307200
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia	OMIM:620514
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,...	OMIM:193700
Scrub Typhus	Renal insufficiency, Splenomegaly, Lymphadenopathy	ORPHA:83317
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	ORPHA:367
Spermatogenic Failure 38	Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella...	OMIM:618433
Galactosemia I	Aminoaciduria, Galactosuria, Decreased liver function, Elevated circulating aspartate aminotransf...	OMIM:230400
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:47612
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowi...	ORPHA:249
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly, Hypoplasia of penis	ORPHA:99812
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Heparan sulfate excretion in urine, Cardiomegaly, Splenomegaly	OMIM:252920
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Restrictive Dermopathy 2	Gastroesophageal reflux, Rectal prolapse	OMIM:619793
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Eleva...	OMIM:276700
Abcd Syndrome	Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m...	OMIM:600501
Autosomal Recessive Primary Microcephaly	Short stature, Abnormal cortical bone morphology, Growth delay	ORPHA:2512
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Auto...	ORPHA:99027
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr...	ORPHA:98849
Sweeney-Cox Syndrome	Short distal phalanx of finger, Bilateral cryptorchidism, 2-4 finger syndactyly, Short clavicles,...	OMIM:617746
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300554
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria...	ORPHA:549
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Anemia, Thrombocytopenia, Hepatomegaly	ORPHA:2123
Mpi-Cdg	Hepatic fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, Decreased liver functi...	ORPHA:79319
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, E...	ORPHA:206448
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Gastrointestinal hemorrhage, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Abnorm...	ORPHA:398124
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic necrosis, Chronic noninfectious ...	ORPHA:100093
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Small for gestational age, Aplastic anemia, Grow...	ORPHA:221016
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi...	ORPHA:2909
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Hyperostosis, Splenomegaly, Polycystic ...	ORPHA:2969
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Typhoid	Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly	ORPHA:99745
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Cardiofacioneurodevelopmental Syndrome	Abdominal situs inversus, Cryptorchidism, Brachydactyly, Camptodactyly, Clinodactyly of the 5th f...	OMIM:619123
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa...	OMIM:603553
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Failure to thrive, Joi...	OMIM:616881
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute...	ORPHA:319218
Immunodeficiency 23	Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropen...	OMIM:615816
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co...	OMIM:619638
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Autosomal Dominant Kenny-Caffey Syndrome	Growth delay, Decreased testicular size, Postnatal growth retardation, Intrauterine growth retard...	ORPHA:93325
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bone marrow hypocellularity, Postnatal growth retardation, Metaphyseal sclerosis, Gen...	OMIM:612199
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Lymphadenopathy	ORPHA:2221
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	OMIM:619381
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Ascites, Pancreatic lymphangiectasis, Splenomegaly, ...	OMIM:235255
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome...	OMIM:610377
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Ataxia, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:619260
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:613404
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
Kenny-Caffey Syndrome, Type 2	Severe short stature, Hypoparathyroidism, Abnormality of the medullary cavity of the long bones, ...	OMIM:127000
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Intestinal fistula, Zol...	ORPHA:100078
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials	OMIM:617523
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic...	OMIM:251290
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomega...	OMIM:267700
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Dicarboxylic aciduria, Exe...	OMIM:201475
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral...	OMIM:301068
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility, Progressive cerebellar ataxia	ORPHA:276183
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Renal hypoplasia, Ketonuria, High palate	OMIM:619053
Monosomy 22	Finger syndactyly, Hepatosplenomegaly, Aplasia of the thymus, Hyperhidrosis, Hypochromic microcyt...	ORPHA:96123
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia...	OMIM:269200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Splenomegaly	ORPHA:1133
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Short Stature, Microcephaly, And Endocrine Dysfunction	Disproportionate short-limb short stature, Clinodactyly, Lymphopenia, Intrauterine growth retarda...	OMIM:616541
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly	OMIM:252900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intestine morphology, Anem...	OMIM:226300
Aa Amyloidosis	Chronic kidney disease, Nephropathy, Acute kidney injury, Cholestasis, Proteinuria, Hepatomegaly,...	ORPHA:85445
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Female hypogonadism, Male hypogonadism, Type I diabetes mellitus, Adrenal insuffi...	OMIM:240300
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Cranio-Osteoarthropathy	Abnormal tibia morphology, Clubbing of toes, Abnormal cortical bone morphology, Deviation of finger	ORPHA:1525
Thyroid Lymphoma	Dysphagia, Lymphadenopathy	ORPHA:97285
Nijmegen Breakage Syndrome	Sandal gap, Intrauterine growth retardation, Autoimmune hemolytic anemia, 2-3 toe syndactyly, Dys...	OMIM:251260
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal ...	OMIM:114000
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Esophageal varix	OMIM:616028
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Hepatitis, Leukocytosis, Splenomegaly, Autoimmun...	OMIM:620565
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Dysphagia, Lymphadenopathy	ORPHA:142
Charcot-Marie-Tooth Disease Type 1F	Inability to walk, Decreased nerve conduction velocity, Limb ataxia, Gait ataxia, Sensorineural h...	ORPHA:101085
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Failure to thrive, Lymphopenia, Leukopenia, Po...	OMIM:242840
Cockayne Syndrome Type 1	Optic atrophy, Male hypogonadism, Foot joint contracture, Hearing impairment, Failure to thrive, ...	ORPHA:90321
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis, Chronic otitis media, Male infertility	OMIM:300991
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th...	ORPHA:221120
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Renal insufficiency, Leukoc...	ORPHA:293173
Trichohepatoenteric Syndrome 2	Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis	OMIM:614602
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Small for gestational age, Clinodactyly, Slender long bone, Failure to thrive, ...	OMIM:264090
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Dysphagia, Splenomegaly	OMIM:252930
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Decreased erythrocyte fructose-1,...	OMIM:611881
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Ascites, Pancreatic lymphangiectasis, Hepatosplenome...	ORPHA:1655
Gaucher Disease, Type I	Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:230800
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Ascites, Chronic noninfectious lymphaden...	ORPHA:100085
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra...	OMIM:214500
Leprechaunism	Megarectum, Nephrocalcinosis, Long penis, Rectal prolapse, Enlarged ovaries, Hypercalciuria, Hepa...	ORPHA:508
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Malakoplakia	Urinary bladder inflammation, Neoplasm of the colon, Urinary hesitancy, Follicular hyperplasia, H...	ORPHA:556
Reni Syndrome	Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hypothyroidism	OMIM:617575
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Neoplasm of the thymus, Chronic noninfectious lymphadenopathy, Pancreati...	ORPHA:97289
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	OMIM:605911
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
Oculoskeletodental Syndrome	Protein-losing enteropathy, Splenomegaly, Mucopolysacchariduria, Hypercalciuria, Hepatomegaly, Ma...	OMIM:618440
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Lymphopenia, Decreased circulating antibody level, Mi...	ORPHA:2136
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Primary Ciliary Dyskinesia	Asplenia, Clubbing, Polysplenia	ORPHA:244
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Leukemia, Renal insufficiency, Splenomegaly, Lymp...	ORPHA:33226
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Lymphopenia, Pancytopenia, Hepatosplenomeg...	OMIM:615688
Combined Oxidative Phosphorylation Deficiency 19	Gastroesophageal reflux, Elevated circulating aspartate aminotransferase concentration, Microvesi...	OMIM:615595
Mosaic Trisomy 9	Finger clinodactyly, Camptodactyly of finger, Intrauterine growth retardation, Cryptorchidism, Pa...	ORPHA:99776
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Dubowitz Syndrome	Anal stenosis, Submucous cleft hard palate, Hydronephrosis, Thrombocytopenia, High palate, Anemia...	ORPHA:235
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly	ORPHA:99931
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Asc...	ORPHA:186
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali...	ORPHA:781
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Pediatric Systemic Lupus Erythematosus	Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Dark urine, Renal...	ORPHA:93552
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Reduced circulating growth hormone concentration, Lymphopenia, Pancytopenia, Leukopenia, Obesity,...	OMIM:620654
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Increased bone mineral densi...	ORPHA:289176
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Ileus, Splenomegaly, Autoimmu...	ORPHA:37042
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:616950
Spermatogenic Failure 75	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619949
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Glycosuria, Elevated c...	ORPHA:2088
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Liver Failure, Infantile, Transient	Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Acute hepatic fai...	OMIM:613070
Stüve-Wiedemann Syndrome	Osteopenia, Camptodactyly of finger, Intrauterine growth retardation, Genu valgum, Abnormal corti...	ORPHA:3206
Osteogenesis Imperfecta	Abnormal tibia morphology, Genu valgum, Decreased skull ossification, Bowing of the long bones, D...	ORPHA:666
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Arachnodactyly, Thymus hyperplasia	OMIM:619036
Cowden Syndrome 1	Thyroid adenoma, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyro...	OMIM:158350
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Oral leukoplakia, Acute hepatic failure, Ascites, Gastrointestinal...	ORPHA:342
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Re...	ORPHA:39812
Neuroendocrine Tumor Of The Rectum	Hematochezia, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Aromatase Deficiency	Insulin resistance, Delayed epiphyseal ossification, Osteopenia, Female infertility, Obesity, Eun...	ORPHA:91
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Bloom Syndrome	Decreased circulating IgG level, Postnatal growth retardation, Elevated hemoglobin A1c, Decreased...	OMIM:210900
Noonan Syndrome 14	Clinodactyly, Lymphopenia, Cryptorchidism, Hyperhidrosis, Short stature	OMIM:619745
Campomelia, Cumming Type	Multicystic kidney dysplasia, Abnormal intestine morphology, Multiple renal cysts, Hepatomegaly, ...	ORPHA:1318
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Small for gestational age, Rickets, Failure to thrive, Growth delay, Cholestasis, Sle...	OMIM:613658
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu...	ORPHA:79240
Khan-Khan-Katsanis Syndrome	Clinodactyly, Failure to thrive, Lymphopenia, Intrauterine growth retardation, Patent ductus arte...	OMIM:618460
Cockayne Syndrome A	Irregular menstruation, Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potent...	OMIM:216400
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Congenital hypoplastic anemia, Hypochromic microcytic an...	ORPHA:77297
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:109120
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly	ORPHA:3035
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ...	OMIM:301000
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric mucosa morphology, Cirrhosis, Hepa...	ORPHA:779
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Mcleod Syndrome	Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Splenomegaly, Elev...	OMIM:300842
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:602782
Absent Radius-Anogenital Anomalies Syndrome	Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Intrauterine growth retardation, Hypoplasi...	ORPHA:3384
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulati...	OMIM:261680
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Multiple renal cysts, Hepatom...	OMIM:613095
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Short stature, Asplenia, Toe syndactyly, Patent ductus arteriosus	OMIM:619657
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, M...	OMIM:620233
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Medium chain dicarboxyl...	OMIM:201450
Sepsis In Premature Infants	Oliguria, Decreased liver function, Functional abnormality of the gastrointestinal tract, Reversi...	ORPHA:90051
Multiple Myeloma	Nephropathy, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Splenomeg...	ORPHA:29073
Neuroendocrine Neoplasm Of Appendix	Adenocarcinoma of the colon, Elevated circulating hepatic transaminase concentration, Chronic non...	ORPHA:100079
Avian Influenza	Lymphopenia, Leukopenia, Hepatitis, Thrombocytopenia	ORPHA:454836
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Cervical lymph...	OMIM:617718
Cerebrotendinous Xanthomatosis	Optic atrophy, Osteopenia, Abnormal auditory evoked potentials, Abnormal motor evoked potentials,...	ORPHA:909
Generalized Pustular Psoriasis	Lymphopenia, Obesity, Overweight, Leukocytosis	ORPHA:247353
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating alanin...	OMIM:619573
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Lymphadenopathy, Thrombocytosis, Hepatomegaly	ORPHA:2905
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Cockayne Syndrome B	Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Small for gestatio...	OMIM:133540
Spermatogenic Failure 77	Azoospermia, Multiflagellar spermatozoa, Oligozoospermia, Male infertility	OMIM:620103
Ciliary Dyskinesia, Primary, 9	Recurrent otitis media, Situs inversus totalis, Chronic otitis media, Male infertility	OMIM:612444
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Ab...	ORPHA:309854
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia	OMIM:617388
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Fa...	ORPHA:206436
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit...	ORPHA:228119
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:520
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Anemia, Hypercalciuria, Polyuria, Hepatomegaly	OMIM:239200
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Chronic noninfectious l...	ORPHA:100075
Oculodentodigital Dysplasia	Toe syndactyly, Finger syndactyly, Clinodactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of...	ORPHA:2710
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Co...	ORPHA:288
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:333
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Short thumb, Short toe, Polysplenia, 2-3 toe syndactyly, Pate...	OMIM:164280
Carney Triad	Gastrointestinal hemorrhage, Ascites, Gastrointestinal stroma tumor, Lymphadenopathy, Anemia, Med...	ORPHA:139411
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Aplastic clavicle, Finger syndactyly, Cranial hyperostosis, Facial hyperost...	ORPHA:2658
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Tubu...	ORPHA:449395
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Postaxial foot polydactyly, Clinodact...	OMIM:249000
Mogs-Cdg	Optic atrophy, Sensorineural hearing impairment, Cardiomegaly, Left ventricular hypertrophy, Abse...	ORPHA:79330
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Glycosu...	OMIM:616026
Igg4-Related Submandibular Gland Disease	Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibular glands, Sialadenitis, ...	ORPHA:449432
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Galactosuria, Bifid uvula, Cholestasis, Renal cortical microcy...	OMIM:222470
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Portal hypertension, Splenomegaly, Leu...	ORPHA:729
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate ami...	OMIM:615486
Wilson Disease	Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas...	OMIM:277900
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased cir...	ORPHA:51636
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Pancreatitis, Lymphadenopathy, Thromboc...	ORPHA:499009
Ciliary Dyskinesia, Primary, 18	Recurrent otitis media, Immotile sperm, Situs inversus totalis, Male infertility	OMIM:614874
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Generalized osteoporosis, Femoral bowing, Thin bony cortex	OMIM:617952
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Situs inversus totalis, Male infertility, Coiled sperm flagella	OMIM:620197
Gray Platelet Syndrome	Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Gaucher Disease, Type Ii	Gastroesophageal reflux, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Dysphagia	OMIM:230900
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy	ORPHA:97287
Polymerase Proofreading-Related Adenomatous Polyposis	Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po...	ORPHA:447877
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Genu valgum, Fibular bowing, Tibial bowing, Decreased calvarial ossificat...	OMIM:613848
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic tran...	OMIM:557000
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci...	ORPHA:96253
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormal rectum morphology, Abnormality of the anus, Hypospadias, Epis...	ORPHA:2556
Meckel Syndrome	Accessory spleen, Postaxial foot polydactyly, Preaxial hand polydactyly, Cryptorchidism, Congenit...	ORPHA:564
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Otitis media, Immotile sperm, Reduced sperm motility, Male infertility	OMIM:613807
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Oral leukoplakia, Anorectal anomaly, Splenomegaly, ...	ORPHA:1775
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Micropenis, Histiocytosis, Enlarged kidney	ORPHA:168569
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Patent ductus arteriosus, Annular pancreas	ORPHA:210122
Porphyria, Congenital Erythropoietic	Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Red u...	OMIM:263700
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Abnormal spermatogenes...	ORPHA:261529
Neuroblastoma	Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate...	ORPHA:635
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Failure to thrive, Polysplenia, Abdominal situs inversus, Biliary atr...	OMIM:306955
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Persistence of hemoglo...	OMIM:260400
Spondyloocular Syndrome	Osteopenia, Overlapping toe, Decreased body weight, Arachnodactyly, Femur fracture, Long toe, Lon...	OMIM:605822
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Ataxia, Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megaco...	OMIM:609136
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Trisomy 10P	Low-set ears, Abnormal auditory evoked potentials, Abnormal heart morphology, EEG with burst supp...	ORPHA:171929
Familial Mediterranean Fever	Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Crohn's disease, Peritonitis, Neutrop...	OMIM:249100
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Gastroesophageal reflux, Renal artery stenosis...	OMIM:617913
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach cancer, Ne...	ORPHA:440437
Williams Syndrome	Rectal prolapse, Cholelithiasis, Gastroesophageal reflux, Renal insufficiency, Multiple renal cys...	ORPHA:904
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Overlapping fingers	OMIM:619708
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Abnormal abdomen morpholog...	ORPHA:97261
Li-Fraumeni Syndrome	Stomach cancer, Neoplasm of the gastrointestinal tract, Neoplasm of the rectum, Acute myeloid leu...	ORPHA:524
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Hepatomegaly	ORPHA:163746
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Macrocytic anemia, Prolonged neon...	OMIM:615512
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Splenome...	ORPHA:158048
Penile Agenesis	Hydroureter, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral renal hypoplasia, Hydronep...	ORPHA:49
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Frank-Ter Haar Syndrome	Osteopenia, Growth delay, Flared metaphysis, Cortical irregularity, Bowing of the long bones, Pro...	OMIM:249420
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Ascites, Pulmonary lymphangiomyomatosis, Abn...	ORPHA:538
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Oroticaciduria, Hepatomegaly, Diaminoacidur...	OMIM:207800
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Neoplasm of the rectum, Adenomatous colonic p...	ORPHA:454840
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Broad hallux, Clinodactyly, Congenital hypothyroidism, Intrauterine growth retarda...	OMIM:620186
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Recurrent otitis media, Situs inversus totalis, Dextrocardia, Male infertility	OMIM:619607
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Cryptorchidism, Thin bony cortex, Long fingers, Short stature, Osteoporosis, Hyperex...	OMIM:309583
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematochezia, Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Anemi...	OMIM:615846
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Hyperhidrosis, Thrombocytopenia, Fulminant hepatitis	ORPHA:319213
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concentration, He...	ORPHA:167
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cervical ...	ORPHA:3260
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Colonic diverticula, Renal artery st...	OMIM:194050
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae...	ORPHA:1652
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Primary Sjögren Syndrome	Normocytic anemia, Thyroiditis, Biliary cirrhosis, Xerostomia, Chronic active hepatitis, Parotiti...	ORPHA:289390
Brucellosis	Hypersplenism, Abnormality of the liver, Leukopenia, Splenomegaly, Leukocytosis, Thrombocytosis, ...	ORPHA:1304
Sarcoidosis	Abnormal lymph node morphology, Hepatomegaly, Tubulointerstitial nephritis, Renal insufficiency, ...	ORPHA:797
Spermatogenic Failure 14	Azoospermia, Male infertility, Round spermatid arrest	OMIM:615842
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Secondary hyperaldosteronism, Lymphopenia, Decreased circulatin...	ORPHA:90363
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi...	OMIM:243910
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Proportionate short stature, Brachydactyly, Thin bony cortex, Broad ...	OMIM:277600
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure	ORPHA:83451
Acute Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal auditory evoked potentials, Sensorineural hearing impairment	ORPHA:529808
Aspartylglucosaminuria	Abnormal cortical bone morphology, Splenomegaly, Abnormal morphology of ulna, Hepatomegaly, Macro...	ORPHA:93
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Splenomegaly, Hypercalciuria, Generalized lymp...	OMIM:181000
Spermatogenic Failure 28	Non-obstructive azoospermia, Male infertility	OMIM:618086
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Intestinal obstruction, Peritonitis, Lymphadenopathy	ORPHA:32960
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Renal hypoplasia, Gastroesophageal reflux, Rectal prolapse, High palate	OMIM:617157
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Microvesicular hepati...	OMIM:618278
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive...	ORPHA:331235
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Oroticaciduria, Leukopenia, Stage 5 chronic kidn...	OMIM:222700
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Cyclic neutropenia, Decr...	OMIM:232240
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Abnormal abdomen morpholog...	ORPHA:97278
Tetraamelia Syndrome 1	Asplenia, Hypoplastic pelvis, Adrenal gland agenesis	OMIM:273395
Proteus Syndrome	Finger syndactyly, Cachexia, Abnormal metacarpal morphology, Calvarial hyperostosis, Abnormal fin...	ORPHA:744
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Proportionate short stature, Patent ductus arteriosus,...	OMIM:608328
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubulointersti...	ORPHA:470
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Somatostatinoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites, Neop...	ORPHA:97283
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Situs inversus totalis, Male infertility	OMIM:614935
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent infection of the gastrointestinal tract, Splenomegaly	OMIM:612132
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Aplasia/hypoplasia of the femu...	ORPHA:2769
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Melena, Parotitis, Ascites, Pancytopenia, Leukopenia, Leukocytosis, Cholecystiti...	ORPHA:99827
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol...	OMIM:608594
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Mend Syndrome	Low-set ears, Aortic valve stenosis, Abnormal auditory evoked potentials, Failure to thrive, Abno...	ORPHA:401973
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Spermatogenic Failure 13	Azoospermia, Male infertility	OMIM:615841
Spermatogenic Failure, X-Linked, 4	Azoospermia, Male infertility	OMIM:301077
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Renal insufficiency, Peritonitis, Eosinophil...	ORPHA:228123
Multiple Endocrine Neoplasia Type 2	Elevated urinary norepinephrine level, Abnormal tongue morphology, Cervical lymphadenopathy, Gang...	ORPHA:653
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol...	OMIM:269700
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Gastroesophageal reflux, Pelvic organ prolapse, Cystocele, Gastrointestinal ...	ORPHA:285
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Gastroesophageal reflux, Hydroureter, Rectovestibular fistula, Hydronephrosis, Ana...	ORPHA:280633
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Lynch Syndrome	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal polyposis, Salivary gland neop...	ORPHA:144
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Acute pro...	ORPHA:77293
Heterotaxy, Visceral, 5, Autosomal	Abdominal situs inversus, Intrauterine growth retardation, Abdominal situs ambiguus, Asplenia, Pa...	OMIM:270100
Blau Syndrome	Nephropathy, Xerostomia, Abnormality of the liver, Stage 5 chronic kidney disease, Splenomegaly, ...	ORPHA:90340
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Large for gestational age, Hypoplastic pelvis, Polydactyly, Thin b...	OMIM:612731
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Metaphyseal dysp...	OMIM:619727
Mismatch Repair Cancer Syndrome 3	Neoplasm of the rectum, Colon cancer	OMIM:619097
Cherubism	Narrow palate, Submandibular lymph node enlargement	OMIM:118400
Leptospirosis	Acute kidney injury, Hepatitis, Elevated serum transaminases during infections, Cellular urinary ...	ORPHA:509
Classical Ehlers-Danlos Syndrome	Hiatus hernia, Bladder diverticulum, Gastroesophageal reflux, Rectal prolapse	ORPHA:287
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy	ORPHA:667
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Proximal tu...	OMIM:229600
Orofaciodigital Syndrome Type 4	High, narrow palate, Bifid uvula, Perineal fistula, Submucous cleft hard palate, Rectal atresia, ...	ORPHA:2753
Plague	Inflammation of the large intestine, Lymphadenitis, Splenomegaly, Ileitis, Enterocolitis, Hematem...	ORPHA:707
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephrolith...	OMIM:130650
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Abnormality of the submandibular glands, Enlargement of parotid gland, Lymphadenopath...	ORPHA:79078
Charge Syndrome	Bifid femur, Parathyroid hypoplasia, Short thumb, Aplasia/Hypoplasia of the thymus, Decreased res...	OMIM:214800
Igg4-Related Ophthalmic Disease	Colon cancer, Sialadenitis, Eosinophilia, Pancreatitis, Lymphadenopathy, Cholangitis, Retroperito...	ORPHA:449563
Coffin-Lowry Syndrome	Narrow palate, High palate, Rectal prolapse	OMIM:303600
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Parotitis, Microcytic anemia, Splenomega...	OMIM:256040
Kawasaki Disease	Strawberry tongue, Sterile pyuria, Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystit...	ORPHA:2331
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Oligozoospermia, Male infertility	ORPHA:48
Behçet Disease	Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Pancreatitis, Lymphadenopathy	ORPHA:117
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Patent ductus arteriosus, Pulmonary lymphangiectasia	OMIM:265380
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess	OMIM:116920
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad hallux, Failure to thrive, Long hallux, Genu valgum, Cryptorchidism, Arachnodactyly, Long t...	ORPHA:261537
Systemic Lupus Erythematosus	Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Hemolytic...	ORPHA:536
Microphthalmia, Syndromic 1	High, narrow palate, Renal hypoplasia, Hydroureter, Aganglionic megacolon, High palate, Anal atre...	OMIM:309800
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Hepatic failure, Colonic diverticula, Anteriorly plac...	OMIM:243800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad hallux, Failure to thrive, Hydrocele testis, Long hallux, Genu valgum, Cryptorchidism, Arac...	ORPHA:261552
Partial Androgen Insensitivity Syndrome	Insulin insensitivity, Male sexual dysfunction, Azoospermia, Primary amenorrhea, Male infertility	ORPHA:90797
Mowat-Wilson Syndrome	Growth delay, Broad hallux, Hydrocele testis, Genu valgum, Cryptorchidism, Decreased body weight,...	ORPHA:2152
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility	OMIM:277180
African Trypanosomiasis	Urinary incontinence, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Lymphadenopathy, Hep...	ORPHA:3385
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Sacral Defect With Anterior Meningocele	Neurogenic bladder, Urinary retention, Rectal abscess	OMIM:600145
Carney Complex	Tongue nodules, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the stomach, Neoplasm of...	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.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
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

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Tle4 MGI:104633

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Tle4 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data