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Gene: Jak3 MGI:99928

Gene Summary

Name:

Janus kinase 3

Synonyms:

N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
hyperactivity	Jak3^em1(IMPC)Mbp	HET	Early adult	3.95×10^-12
decreased exploration in new environment	Jak3^em1(IMPC)Mbp	HET	Early adult	6.72×10^-06
enlarged spleen	Jak3^em1(IMPC)Mbp	HET	Early adult	0.00
decreased thigmotaxis	Jak3^em1(IMPC)Mbp	HET	Early adult	1.25×10^-08
abnormal neural tube morphology	Jak3^em1(IMPC)Mbp	HET	E9.5	0.00
abnormal lymph node morphology	Jak3^em1(IMPC)Mbp	HET	Early adult	0.00
no spontaneous movement	Jak3^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal behavior	Jak3^em1(IMPC)Mbp	HET	Early adult	1.29×10^-08
abnormal spleen morphology	Jak3^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, incomplete penetrance	Jak3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased anxiety-related response	Jak3^em1(IMPC)Mbp	HET	Early adult	5.52×10^-09
abnormal placenta morphology	Jak3^em1(IMPC)Mbp	HET	E18.5	0.00
no spontaneous movement	Jak3^em1(IMPC)Mbp	HET	E18.5	0.00
enlarged lymph nodes	Jak3^em1(IMPC)Mbp	HET	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E9.5

Images

5 Images

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Gross Morphology Embryo E18.5

Images

2 Images

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Human diseases caused by Jak3 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 Jak3 (2 diseases)
Human diseases predicted to be associated with Jak3 (1500 diseases)

The table below shows human diseases associated to Jak3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative		Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency		Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078

The table below shows human diseases predicted to be associated to Jak3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve...	OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ...	OMIM:615214
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti...	OMIM:212050
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Immunodeficiency 62	Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respiratory tract infect...	OMIM:618459
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr...	OMIM:615592
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ...	OMIM:618987
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Immunodeficiency 79	Decreased proportion of CD4-positive T cells, Recurrent upper respiratory tract infections, Recur...	OMIM:619238
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Hepatosplenomegaly, Decreased circulating antibody level, Recu...	OMIM:618261
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections	OMIM:606445
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Hepatosplenomegaly, Increased propo...	OMIM:618982
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea	OMIM:619398
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent...	ORPHA:277
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop...	OMIM:619164
Cernunnos-Xlf Deficiency	Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu...	ORPHA:169079
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Anemia, Hematochezia, Chr...	ORPHA:209964
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf...	OMIM:614493
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency 48	Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Recurrent candid...	OMIM:269840
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp...	OMIM:618944
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c...	ORPHA:276
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Histiocytosis, Familial Lipochrome	Recurrent infections, Increased circulating antibody level, Histiocytosis	OMIM:235900
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc...	OMIM:610163
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T...	OMIM:603554
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Lactose Intolerance, Adult Type	Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,...	OMIM:223100
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De...	ORPHA:397596
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:615518
Immunodeficiency 19	T lymphocytopenia, Chronic diarrhea, Abnormal B cell morphology, Abnormal natural killer cell mor...	OMIM:615617
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati...	OMIM:243700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ...	OMIM:618986
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections...	ORPHA:217390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula...	OMIM:102700
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Persistent EBV viremia, Decreased circulating tota...	OMIM:619510
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator...	OMIM:616005
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom...	OMIM:150550
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu...	OMIM:616871
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent...	OMIM:617765
Immunodeficiency 11A	Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased...	OMIM:615206
Immunodeficiency 95	Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul...	OMIM:619773
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r...	OMIM:613179
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:615767
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Invasive fungal infection, Increased T cell count, Increased circu...	ORPHA:98813
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga...	OMIM:609529
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt...	ORPHA:331206
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur...	OMIM:619752
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased circulating...	OMIM:614069
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Enlarged tonsils	ORPHA:168621
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve...	OMIM:300755
Immunodeficiency 68	Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, Recurrent meningitis, Abnor...	OMIM:612260
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig...	OMIM:619774
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Immunodeficiency 104	Splenomegaly, Diarrhea, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect...	OMIM:620210
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Adrenoc...	OMIM:609981
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 51	Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca...	OMIM:613953
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Increased circulating IgE level, Severe cytomegalovirus infection, Decreased circul...	OMIM:617638
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Dementia, Hepatomegaly	ORPHA:2274
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ...	OMIM:618394
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De...	OMIM:616098
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Min...	OMIM:617006
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea...	OMIM:614878
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu...	OMIM:147060
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up...	OMIM:616100
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane...	OMIM:226990
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema...	OMIM:174900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, H...	ORPHA:169160
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In...	ORPHA:424019
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ...	OMIM:616050
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Trehalase Deficiency	Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Recurre...	OMIM:608106
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino...	OMIM:618523
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Axin2-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo...	OMIM:618282
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 22	Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulating total IgM, D...	OMIM:615758
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain	OMIM:191390
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection...	ORPHA:572
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Whim Syndrome 1	Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac...	OMIM:193670
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo...	OMIM:613101
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Re...	OMIM:619644
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph...	OMIM:209950
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps...	OMIM:616740
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Acut...	ORPHA:486
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ...	OMIM:242860
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermatitis, Decrease...	ORPHA:293978
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb...	ORPHA:911
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Blue Rubber Bleb Nevus	Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc...	OMIM:112200
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, H...	OMIM:300635
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho...	OMIM:603909
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Increased circul...	ORPHA:37748
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat...	OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia	OMIM:619851
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Schizophrenia 15	Hyperactivity	OMIM:613950
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Recurrent staphylococc...	OMIM:615816
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Pancreatitis, Leukocytosi...	ORPHA:90038
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Secretory Component Deficiency	Chronic intestinal candidiasis, Intermittent diarrhea	OMIM:269650
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu...	OMIM:615966
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na...	OMIM:308240
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegal...	OMIM:612840
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Candidiasis, Familial, 1	Abnormality of the endocrine system, Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurre...	OMIM:114580
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri...	OMIM:604416
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,...	OMIM:616433
Selective Igm Deficiency	Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cutaneous fungal infectio...	ORPHA:331235
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Papular Xanthoma	Histiocytosis	ORPHA:158008
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Recurrent infections, Decreased circulating antibod...	OMIM:301045
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal ...	ORPHA:103907
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab...	OMIM:301000
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,...	OMIM:229050
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase...	ORPHA:263665
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Sucrase-Isomaltase Deficiency, Congenital	Diarrhea, Malabsorption, Abdominal pain	OMIM:222900
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ...	OMIM:618116
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent...	OMIM:617780
Reticular Dysgenesis	Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib...	ORPHA:33355
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Hepatomegaly, Portal ...	ORPHA:79124
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Iron deficiency anemia,...	OMIM:301074
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ...	ORPHA:221139
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,...	OMIM:613011
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Angioedema, Hereditary, 8	Diarrhea, Episodic vomiting, Abdominal pain	OMIM:619367
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re...	ORPHA:436159
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, Leukocytosis,...	ORPHA:3392
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Desmoid Disease, Hereditary	Colorectal polyposis, Colon cancer, Desmoid tumors	OMIM:135290
Hyperlysinemia, Type I	Cognitive impairment, Short attention span, Hyperactivity, Anemia	OMIM:238700
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial ...	OMIM:613496
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec...	OMIM:256500
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C...	ORPHA:160148
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Reduced natural killer cell activity, S...	OMIM:608233
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ...	ORPHA:83471
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma...	ORPHA:508542
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level	OMIM:618042
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron...	OMIM:619381
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea	OMIM:251850
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom...	ORPHA:251992
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Abdominal pain, Malab...	ORPHA:2070
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro...	ORPHA:90362
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Lymphadenitis, Recurrent mycobacterial infections, BCGo...	ORPHA:319552
Diarrhea 9	Diarrhea, Villous atrophy	OMIM:618168
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Hepatomegaly	OMIM:619175
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Increased circulating IgE level, Ane...	OMIM:304790
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ...	OMIM:618213
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Recurrent respiratory infections, Hepatomegaly	ORPHA:139406
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial i...	ORPHA:158048
Mirage Syndrome	Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anemia, Leukopenia, Adrenal i...	OMIM:617053
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Peutz-Jeghers Syndrome	Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi...	OMIM:175200
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa...	ORPHA:2494
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Ataxia-Telangiectasia	Decreased circulating IgG level, Diabetes mellitus, Female hypogonadism, Decreased circulating Ig...	OMIM:208900
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Immunodeficiency 9	Hypoplasia of the thymus	OMIM:612782
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology	OMIM:606528
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Restrictive Dermopathy 2	Rectal prolapse, Gastroesophageal reflux, Feeding difficulties	OMIM:619793
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi...	OMIM:615387
Esophagitis, Eosinophilic, 2	Vomiting, Eosinophilia, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Eosinophilia, Esophagitis, Dysphagia	OMIM:610247
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Abdominal pain, High, narrow palate, Rectal prola...	ORPHA:79076
Coproporphyria, Hereditary	Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo...	OMIM:121300
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity	OMIM:615190
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Increased circulating IgE level, Hypereosinophilia	ORPHA:2902
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia	OMIM:616069
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A...	OMIM:607115
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Immunodeficiency 33	Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level	OMIM:300636
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Diarrhea 7, Protein-Losing Enteropathy Type	Abdominal colic, Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy	OMIM:615863
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections	OMIM:618985
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Diarrhea, Vomiting	OMIM:605911
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ...	ORPHA:83617
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233710
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial...	ORPHA:169090
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c...	OMIM:616576
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis...	OMIM:619445
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Rabies	Nausea and vomiting, Diarrhea, Anorexia	ORPHA:770
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia	OMIM:613217
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma...	ORPHA:3162
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase...	OMIM:617099
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233690
Immunodeficiency 10	Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection...	OMIM:612783
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin...	OMIM:137100
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Anemia, Arthritis, P...	OMIM:617591
Roifman Syndrome	Hypogonadotropic hypogonadism, Eczema, Eosinophilia, Recurrent pneumonia, Lymphadenopathy, Hepato...	ORPHA:353298
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum...	ORPHA:424016
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa...	ORPHA:2686
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent tonsillitis, Recurrent pneumonia	OMIM:613779
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,...	ORPHA:67
Hirschsprung Disease	Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Abdomin...	ORPHA:388
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Meige Disease	Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of lymph node germinal center	ORPHA:90186
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increa...	ORPHA:83313
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea	OMIM:613291
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Aspergillosis	Eosinophilia, Meningitis, Increased circulating IgE level, Unusual CNS infection, Invasive pulmon...	ORPHA:1163
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis...	ORPHA:47612
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab...	ORPHA:158061
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Immunodeficiency 12	Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso...	OMIM:615468
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf...	OMIM:617475
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Gastrointestinal Stromal Tumor	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of ...	ORPHA:44890
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Multicentric Reticulohistiocytosis	Histiocytosis	ORPHA:139436
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Splenomegaly, L...	ORPHA:829
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni...	OMIM:301080
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk...	ORPHA:98850
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ...	ORPHA:39041
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent infect...	ORPHA:2314
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Leukopenia, Vomitin...	ORPHA:319218
Immunodeficiency, Common Variable, 10	Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tract infections, Recurre...	OMIM:615577
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease...	OMIM:300972
Dracunculiasis	Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis	ORPHA:231
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosphate regulating...	ORPHA:417
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Fat malabsorption, Exocrine pancreatic insuf...	ORPHA:309108
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D...	ORPHA:157794
Brunner Syndrome	Diarrhea	OMIM:300615
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Sandhoff Disease	Splenomegaly, Recurrent respiratory infections, Hepatomegaly	ORPHA:796
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Ataxia-Telangiectasia	Diabetes mellitus, Abnormal testis morphology, Decreased circulating antibody level, Polycystic o...	ORPHA:100
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Icf Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve...	ORPHA:2268
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Abnormal large intestine morphol...	ORPHA:2198
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Hypothyroidism, Abnormality of the li...	ORPHA:84064
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Shigellosis	Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi...	ORPHA:810
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ...	OMIM:116920
Trichohepatoenteric Syndrome 2	Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis	OMIM:614602
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Common Variable Immunodeficiency	Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden...	ORPHA:1572
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent pneumonia, Bronchiectasis...	OMIM:251260
Acute Peripheral Arterial Occlusion	Leukocytosis	ORPHA:90064
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnormally low ...	OMIM:617341
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit...	OMIM:260920
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Splenomeg...	ORPHA:540
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen...	ORPHA:37042
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro...	OMIM:619858
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper...	ORPHA:508533
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen...	OMIM:231000
Cystic Fibrosis	Meconium ileus, Rectal prolapse, Recurrent pneumonia, Diarrhea, Bronchiectasis, Ileus, Hepatosple...	OMIM:219700
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus	OMIM:214110
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia	OMIM:613313
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Skin rash, Follicular hyperplasia, Pustule, Increased circulating IgA level, Malar rash...	OMIM:615934
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia	ORPHA:48104
Immunodeficiency 27B	Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co...	OMIM:615978
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Hepatomegaly, Lymphadenopathy	ORPHA:56425
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Bloody diarrhea, Hematochezia, In...	OMIM:617718
Cholesteryl Ester Storage Disease	Nausea and vomiting, Splenomegaly, Diarrhea, Esophageal varix, Hepatic failure	ORPHA:75234
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf...	ORPHA:125
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Vomiting	OMIM:610370
Dyskeratosis Congenita, Digenic	Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D...	OMIM:620040
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent up...	ORPHA:183675
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Diarrhea, Abdominal pain	OMIM:615399
Vascular Hyalinosis	Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption	OMIM:277175
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Increased proportion of exhausted T cells	OMIM:618307
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells	ORPHA:133
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Partial absence of specific antibody response to Ha...	ORPHA:79324
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diabetes mellitus, Mediastin...	ORPHA:169105
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Complement Factor B Deficiency	Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease	OMIM:615561
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Elev...	OMIM:615234
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia	ORPHA:108
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:306400
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc...	ORPHA:514
Cronkhite-Canada Syndrome	Intestinal polyposis, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrhea, Furrowed t...	ORPHA:2930
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,...	ORPHA:90045
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie...	ORPHA:33110
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,...	ORPHA:1451
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level,...	OMIM:619750
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Obesity Due To Congenital Leptin Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:66628
Dubowitz Syndrome	Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Rectal prolapse, Chronic diarrh...	ORPHA:235
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec...	ORPHA:90363
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o...	ORPHA:324964
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i...	ORPHA:227990
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro...	ORPHA:227982
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn...	ORPHA:330015
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Macrocephaly/Autism Syndrome	Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent otitis media,...	OMIM:605309
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Micr...	ORPHA:398063
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Encephalopathy, Progressive, With Or Without Lipodystrophy	Mental deterioration, Hepatomegaly, Hyperactivity	OMIM:615924
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:179494
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche...	OMIM:175500
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease...	ORPHA:634
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Panhypogammaglobulinemia, Recurrent infections	ORPHA:251009
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Chylomicron Retention Disease	Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea...	OMIM:246700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Jaundi...	OMIM:603553
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Enteric Anendocrinosis	Diarrhea, Vomiting, Malabsorption	ORPHA:83620
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Complement Component 4B Deficiency	Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o...	OMIM:614379
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes...	ORPHA:436252
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Anemia, Leukopenia, Incr...	ORPHA:77259
Noonan Syndrome 12	Feeding difficulties in infancy, Lymphopenia, Decreased response to growth hormone stimulation te...	OMIM:618624
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a...	ORPHA:77297
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting	OMIM:614265
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Thr...	OMIM:214500
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Cognitive impairment	ORPHA:172
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F...	ORPHA:2137
Dengue Fever	Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Leukopenia, Thrombocy...	ORPHA:99828
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,...	ORPHA:75233
Pearson Syndrome	Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r...	ORPHA:699
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Recur...	OMIM:619463
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav...	OMIM:252920
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Amyloidosis, Familial Visceral	Splenomegaly, Skin rash, Cholestasis, Hepatomegaly	OMIM:105200
Thiamine-Responsive Megaloblastic Anemia Syndrome	Anorexia, Diarrhea, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Roifman Syndrome	Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent...	OMIM:616651
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia	OMIM:614038
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Arthritis, Hepatomegaly	OMIM:228000
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec...	OMIM:615952
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ...	ORPHA:293173
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapular exanthema, Skin rash...	ORPHA:398124
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev...	OMIM:612301
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm...	ORPHA:98818
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Prolidase Deficiency	Hepatomegaly, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Anemia...	OMIM:170100
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia	ORPHA:935
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Hepatosplenom...	OMIM:615688
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease	OMIM:214900
Microphthalmia, Syndromic 9	Cryptorchidism, Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hypogonadism, Hepatomegaly	OMIM:608540
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly	OMIM:620296
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Relapsing Fever	Neutrophilia, Abdominal pain, Leukocytosis, Diarrhea, Anemia, Leukopenia, Vomiting, Thrombocytopenia	ORPHA:91547
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Glycogen Storage Disease Ixb	Splenomegaly, Diarrhea	OMIM:261750
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp...	OMIM:619971
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leu...	OMIM:610377
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi...	ORPHA:83469
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubuloint...	ORPHA:139402
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Hiatus hernia	ORPHA:101009
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ...	ORPHA:85414
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal...	ORPHA:298
Mogs-Cdg	Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea...	ORPHA:79330
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia	ORPHA:90035
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Self-injurious behavior, Abnormal repetitive mannerisms, Hepatomegaly	OMIM:615637
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Feeding difficulties	OMIM:620270
Acute Radiation Syndrome	Diarrhea, Vomiting, Granulocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:454831
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Abdominal pain, Malabsorption, Diarrhea, Iron deficiency anemia, Vomiting...	OMIM:226300
Trichothiodystrophy 3, Photosensitive	Recurrent infections, Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Hematochezia...	OMIM:615895
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ...	ORPHA:793
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangiectasia, Erysipelas	OMIM:235510
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Pneumocystosis	Chronic oral candidiasis, Pneumocystis jirovecii pneumonia, Increased circulating antibody level,...	ORPHA:723
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Recurrent pneumonia	OMIM:602271
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, G...	OMIM:613177
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ...	OMIM:278000
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Arthritis, Cirrhosis	OMIM:602390
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys...	OMIM:614576
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly	OMIM:616719
Hurler-Scheie Syndrome	Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis, Severe infection	ORPHA:206594
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Recurrent infections, Eosinophilia, Decreased circulating antibody level	OMIM:617425
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Lennox-Gastaut Syndrome	Mental deterioration, Hyperactivity, Aggressive behavior	ORPHA:2382
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute leukemia, Type I...	ORPHA:99812
Whim Syndrome	Lymphadenitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Abnormal neutro...	ORPHA:51636
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Cog7-Cdg	Diarrhea, Feeding difficulties, Hepatosplenomegaly	ORPHA:79333
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T...	OMIM:598500
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Porphyria Due To Ala Dehydratase Deficiency	Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal distention, Diarrhea, Constipation, ...	ORPHA:100924
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia	ORPHA:290
Letterer-Siwe Disease	Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto...	OMIM:246400
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ...	ORPHA:228119
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Bloom Syndrome	Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Decreased circulating tota...	OMIM:210900
Necrotizing Enterocolitis	Abdominal distention, Leukocytosis, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Neutropenia...	ORPHA:391673
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Stomatitis, Thrombo...	ORPHA:520
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurren...	ORPHA:575
Muckle-Wells Syndrome	Leukocytosis, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema	OMIM:191900
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast...	ORPHA:2575
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis	OMIM:614204
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab...	ORPHA:39812
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Abnormality of thyroid physiology, Minimal change glomerulonephritis, A...	ORPHA:1830
Typhoid	Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Constipation, Inf...	ORPHA:99745
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Increased circulating I...	ORPHA:1304
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Recurrent respi...	ORPHA:167
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent candida infections, Hypogonadism,...	OMIM:201100
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infe...	OMIM:267700
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Splenomegaly, Stomatitis	OMIM:612852
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Media...	ORPHA:809
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Diarrhea, Perit...	OMIM:249100
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting	OMIM:613638
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S...	OMIM:615516
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
American Trypanosomiasis	Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Splenomega...	ORPHA:3386
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors	OMIM:619467
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Unusual gas...	ORPHA:760
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Intestinal per...	OMIM:603041
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Pancreatitis, Abdominal pain	OMIM:620137
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr...	OMIM:240300
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul...	OMIM:242900
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Recurrent viral i...	OMIM:242840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616910
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc...	ORPHA:309031
Malonyl-Coa Decarboxylase Deficiency	Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting	OMIM:248360
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia...	OMIM:619708
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abn...	ORPHA:90051
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Maculopapular Cutaneous Mastocytosis	Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79457
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Splenomegaly, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hep...	OMIM:607765
Cystic Fibrosis	Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchiectasis, Gastroesophageal reflu...	ORPHA:586
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Q Fever	Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Myoc...	ORPHA:781
Msh3-Related Attenuated Familial Adenomatous Polyposis	Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop...	ORPHA:480536
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras...	ORPHA:93552
Cholestasis, Progressive Familial Intrahepatic, 2	Splenomegaly, Diarrhea, Fat malabsorption, Hepatocellular carcinoma	OMIM:601847
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Diarrhea, Hepatic failure, Steatorrhea	OMIM:235555
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ...	OMIM:239300
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia	OMIM:258360
Diarrhea 13	Secretory diarrhea, Vomiting	OMIM:620357
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Digeorge Syndrome	Parathyroid agenesis, Acne, Impaired T cell function, Seborrheic dermatitis, Decreased circulatin...	OMIM:188400
Congenital Disorder Of Glycosylation, Type Ig	Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig...	OMIM:607143
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Abdominal pain, Intestinal perforation...	ORPHA:544482
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Wilson Disease	Hepatomegaly, Aggressive behavior, Splenomegaly, Hypersexuality, Thrombocytopenia, Jaundice, Hepa...	ORPHA:905
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Abdominal situs inversus	OMIM:619123
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Diarrhea, Malabsorption	OMIM:600955
Chylomicron Retention Disease	Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:71
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting	ORPHA:30925
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Congenital hypoparathyroidism, Anemia	OMIM:244460
Congenital Disorder Of Glycosylation, Type Iij	Splenomegaly, Irritability, Cirrhosis, Hepatomegaly	OMIM:613489
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy, Recurrent infections	OMIM:251240
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Sandhoff Disease, Juvenile Form	Diarrhea, Constipation, Dysphagia	ORPHA:309162
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Splenomegaly, Cervical lymphadenop...	ORPHA:50918
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Congenital Disorder Of Glycosylation, Type Ih	Abdominal distention, Diarrhea, Anemia, Vomiting, Protein-losing enteropathy, Decreased liver fun...	OMIM:608104
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Leukopenia, Increased circulating IgM le...	OMIM:617303
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia	OMIM:620365
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Hepatitis, C...	ORPHA:292
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Recurrent bacterial infections, Ascites, Meningitis	ORPHA:36412
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout, Anemia, Neutropenia	OMIM:617056
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean c...	OMIM:127550
Rapadilino Syndrome	High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate	OMIM:266280
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Galactosemia I	Hemolytic anemia, Diarrhea, Vomiting, Decreased liver function	OMIM:230400
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre...	OMIM:248500
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ...	ORPHA:74
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Hypersplenism,...	OMIM:613385
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Fasciitis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S...	ORPHA:32960
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Feeding difficulties in infancy, Leukopenia, Thrombocytopenia, Megarectum	OMIM:301056
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le...	ORPHA:3260
Snakebite Envenomation	Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitarism, Thrombocyto...	ORPHA:449285
Scrub Typhus	Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis	ORPHA:83317
Cog4-Cdg	Fatal liver failure in infancy, Feeding difficulties, Hepatosplenomegaly, Intermittent diarrhea, ...	ORPHA:263501
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Hereditary Chronic Pancreatitis	Diabetes mellitus, Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification	ORPHA:676
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Mpi-Cdg	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Protein-losing enteropathy, Decreased liver func...	ORPHA:79319
Familial Pancreatic Carcinoma	Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ...	ORPHA:1333
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C...	OMIM:618278
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Vomiting, Feeding difficulties	OMIM:612075
Poikiloderma With Neutropenia	Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne...	OMIM:604173
Avian Influenza	Abdominal pain, Diarrhea, Leukopenia, Vomiting, Lymphopenia, Thrombocytopenia	ORPHA:454836
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni...	OMIM:142680
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Chronic noninfectious lymphadenopathy, Poor appetite, Anorexia, Bowel urgenc...	ORPHA:100075
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte...	ORPHA:247798
Erythroderma Desquamativum	Diarrhea, Seborrheic dermatitis	ORPHA:314
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno...	OMIM:181000
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Recurrent bacterial infections, Hep...	OMIM:232220
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor	ORPHA:100084
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Leukopenia, Bone marrow hy...	OMIM:613989
Glutaric Aciduria Iii	Diarrhea, Vomiting, Goiter	OMIM:231690
Congenital Factor Xiii Deficiency	Myeloid leukemia, Hepatic failure, Inflammation of the large intestine	ORPHA:331
Attrv30M Amyloidosis	Diarrhea, Constipation	ORPHA:85447
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c...	ORPHA:65682
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Increased circulating IgE level	OMIM:615508
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom...	OMIM:617321
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Lymph...	ORPHA:160
Eec Syndrome	Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat...	ORPHA:1896
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia, Abnormal abdomen morphology	OMIM:275000
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null cell adenoma...	ORPHA:97289
Polymerase Proofreading-Related Adenomatous Polyposis	Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th...	ORPHA:447877
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke...	ORPHA:33226
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Neuroendocrine Tumor Of The Rectum	Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sou...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sou...	ORPHA:100082
Treacher-Collins Syndrome	Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia	ORPHA:861
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Systemic Capillary Leak Syndrome	Leukocytosis, Diarrhea, Abdominal pain	ORPHA:188
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Mitchell-Riley Syndrome	Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic...	OMIM:615710
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Splenomegaly, Dysphagia, Motor deterioration	OMIM:252930
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le...	ORPHA:29073
Enterokinase Deficiency	Diarrhea	OMIM:226200
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia	OMIM:301220
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Diabetes mellitus, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia,...	ORPHA:36238
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Reactive Arthritis	Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati...	ORPHA:29207
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding	OMIM:607906
Porphyria, Acute Intermittent	Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea	OMIM:176000
Microvillus Inclusion Disease	Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea, Skin rash	ORPHA:29822
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea, Bronchiectasis	OMIM:619446
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Generalized Pustular Psoriasis	Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp...	ORPHA:247353
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:1267
Triokinase And Fmn Cyclase Deficiency Syndrome	Chronic diarrhea, Microcytic anemia	OMIM:618805
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Primary Ciliary Dyskinesia	Asplenia, Polysplenia	ORPHA:244
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Dyspepsia, Gastrointestinal hemorrhage, Intestinal obs...	ORPHA:85450
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Diarrhea, Enterocolitis, Gout, Hepatocellular adenoma, Ulcerative colitis, T...	ORPHA:79259
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Keratitis, Splenomegaly, Jaundice, Thyrotoxicosis with diffuse goiter...	ORPHA:525731
Cholestasis, Progressive Familial Intrahepatic, 1	Splenomegaly, Diarrhea, Fat malabsorption	OMIM:211600
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Steatorrhea, Hepatic failure	OMIM:602579
Immunodeficiency 56	Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic ...	OMIM:615207
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep...	ORPHA:36234
Cowden Syndrome 1	Lymphopenia, Recurrent infections, Decreased circulating antibody level	OMIM:158350
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diarrhea, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia	ORPHA:3240
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi...	OMIM:212750
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Acne, Abnormality of the tonsils, Impaired T cell function, ...	ORPHA:567
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Classic Galactosemia	Abnormal erythrocyte enzyme level, Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepa...	ORPHA:79239
Erythermalgia, Primary	Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation	OMIM:133020
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ...	ORPHA:91138
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici...	OMIM:620242
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymphadenitis, Pus...	ORPHA:31205
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Abdo...	ORPHA:342
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy	ORPHA:142
Nodular Non-Suppurative Panniculitis	Splenomegaly, Panniculitis, Inflammatory abnormality of the eye, Hepatomegaly	ORPHA:33577
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hyperactivity, Hepatomegaly	OMIM:252900
Carney Triad	Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Mediastinal lymphaden...	ORPHA:139411
Central Diabetes Insipidus	Nausea and vomiting, Diarrhea, Anorexia	ORPHA:178029
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449395
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Irritability, Lymphopenia, Abnormal repetitive mannerisms	ORPHA:391307
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Diarrhea, Anemia	ORPHA:1842
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Abdominal pain, Malabsorption, Spl...	ORPHA:3452
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Dela...	OMIM:611881
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:228371
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Lymphadenopathy, Hepatosplenomegaly,...	ORPHA:85408
Somatostatinoma	Neoplasm of the pancreas, Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstructio...	ORPHA:97283
Plague	Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Splenomegaly, Lymp...	ORPHA:707
Cutaneous Mastocytoma	Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea	ORPHA:79455
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuffici...	ORPHA:2905
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bloody diarrhea, Feeding difficulties	OMIM:615119
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Arthr...	ORPHA:343
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmune thrombocytopenia, Hypothyroidism, Lymphadenopathy, T lymphocytopenia, Recur...	OMIM:607944
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Glucagonoma	Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Constipat...	ORPHA:97280
Classical Ehlers-Danlos Syndrome	Hiatus hernia, Rectal prolapse, Osteoarthritis, Chronic constipation, Gastroesophageal reflux, Vo...	ORPHA:287
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Aggressive behavior, Mental deterioration, Low frustration tolerance...	ORPHA:163681
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Eczema, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux, High palate	OMIM:617157
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Neutropenia, Steatorrhea, Hyperechogenic pancreas, Thrombocytopenia,...	OMIM:617941
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Bile Acid Synthesis Defect, Congenital, 3	Splenomegaly, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Steatorrhea, Hepatic failure	OMIM:613812
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Splenomegaly, Depression, Compulsive behaviors	OMIM:300842
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Microscopic Polyangiitis	Nausea and vomiting, Episcleritis, Gastrointestinal hemorrhage, Sinusitis, Increased inflammatory...	ORPHA:727
C3 Glomerulopathy	Recurrent infections, Paraproteinemia, Decreased circulating complement C3 concentration, Decreas...	ORPHA:329918
Aa Amyloidosis	Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Nausea	ORPHA:85445
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cirrh...	OMIM:235200
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Nausea	ORPHA:927
Leprechaunism	Abdominal distention, Rectal prolapse, Megarectum	ORPHA:508
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Alg8-Cdg	Abnormality of the gastrointestinal tract, Diarrhea, Feeding difficulties, Anemia, Macroglossia, ...	ORPHA:79325
Neuroendocrine Neoplasm Of Appendix	Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Poor a...	ORPHA:100079
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Hyperlipoproteinemia, Type Id	Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ...	ORPHA:562639
Lujo Hemorrhagic Fever	Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Fulminant hepatitis, Odynophagia, ...	ORPHA:319213
Riddle Syndrome	Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinus...	ORPHA:420741
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula	OMIM:601110
Alg1-Cdg	Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease...	ORPHA:79327
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,...	ORPHA:480520
Lysinuric Protein Intolerance	Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Anemia, Leukopenia, Vomiting, Hemophagoc...	OMIM:222700
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leukopenia, Ar...	ORPHA:536
Hyaline Fibromatosis Syndrome	Diarrhea	OMIM:228600
Citrullinemia Type Ii	Restlessness, Hyperactivity, Hepatomegaly, Delirium, Confusion, Abnormal eating behavior, Aggress...	ORPHA:247585
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou...	ORPHA:449291
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Vomiting, I...	ORPHA:2552
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level	ORPHA:449563
Neuroendocrine Tumor Of The Colon	Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdominal pain, Lack of bowel sou...	ORPHA:100080
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Diarrhea, Nausea, Poor appetite, Dysphagia	ORPHA:352447
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Satoyoshi Syndrome	Diarrhea, Malabsorption	OMIM:600705
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Anemia	OMIM:616457
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Microcytic anemia	ORPHA:2959
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Gaisböck Syndrome	Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased h...	ORPHA:90041
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Villous atrophy, Anorexia, Malabsorption, Thrombocytopenia, H...	OMIM:557000
Cystic Echinococcosis	Invasive parasitic infection, Eosinophilia, Abscess, Unusual infection, Increased circulating ant...	ORPHA:400
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Congenital-Onset Steinert Myotonic Dystrophy	Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysphagia	ORPHA:589821
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism	OMIM:617746
H Syndrome	Psoriasiform dermatitis, Diabetes mellitus, Microcytic anemia, Bronchiectasis, Hepatosplenomegaly...	ORPHA:168569
Fanconi Anemia, Complementation Group O	Rectal atresia, Anal atresia	OMIM:613390
Glycogen Storage Disease Ic	Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, ...	OMIM:232240
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Ppoma	Neoplasm of the pancreas, Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstructio...	ORPHA:97278
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Nausea and vomiting, Eosinophilia, Anor...	ORPHA:199299
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Combined Malonic And Methylmalonic Acidemia	Intermittent diarrhea, Vomiting, Nasogastric tube feeding	ORPHA:289504
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresia, Rectal atre...	ORPHA:2538
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg...	ORPHA:171
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Atrophic gastritis, Ch...	OMIM:615846
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Williams Syndrome	Nausea and vomiting, Colonic diverticula, Peptic ulcer, Abdominal pain, Malabsorption, Abnormal g...	ORPHA:904
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Bone-marrow foam cells, Abdominal pain, Hype...	ORPHA:275761
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
Fabry Disease	Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea, Anemia	OMIM:301500
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hyperinsulinemia, Recurrent infections, Hepatic ...	OMIM:613327
Gm1-Gangliosidosis, Type I	Splenomegaly, Vacuolated lymphocytes, Hepatomegaly	OMIM:230500
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Cholestasis, Recurrent o...	OMIM:620233
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,...	ORPHA:79329
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, Diarrhea, High palate	OMIM:300215
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
B4Galt1-Cdg	Splenomegaly, Diarrhea	ORPHA:79332
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Hyperprolinemia Type 2	Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain	ORPHA:79101
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis...	ORPHA:100086
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He...	ORPHA:99818
Reni Syndrome	Cryptorchidism, Hypogonadism, Adrenal insufficiency, Lymphopenia, Hypothyroidism	OMIM:617575
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating antibody level, Lymphadenopathy, ...	ORPHA:2136
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophil...	ORPHA:2035
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Feeding difficulties in infancy, Diarrhea, Vomiting	OMIM:264350
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Diarrhea, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Sea-blue histiocytosis, Hepatomegaly	OMIM:230600
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Hepatomegaly	OMIM:205400
Scheie Syndrome	Splenomegaly, Rhinitis, Hepatomegaly	ORPHA:93474
Lynch Syndrome	Intestinal polyposis, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Malabsorp...	ORPHA:144
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Myositis, Testicular teratoma	ORPHA:764
Intellectual Developmental Disorder, Autosomal Dominant 51	Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti...	OMIM:617788
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia...	ORPHA:91139
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Beta-Ketothiolase Deficiency	Anorexia, Diarrhea, Leukocytosis, Vomiting, Thrombocytosis	ORPHA:134
Stevens-Johnson Syndrome	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abnormality of neutrophi...	ORPHA:36426
Williams-Beuren Syndrome	Colonic diverticula, Feeding difficulties in infancy, Celiac disease, Rectal prolapse, Chronic co...	OMIM:194050
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Severe periodontitis, Microcytic anemia, Keratitis, Abnormal isohemag...	ORPHA:99843
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Abnormal lymph node morphology, Vomiting, Pancrea...	ORPHA:677
Trichinellosis	Increased circulating IgE level, Meningitis	ORPHA:863
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Diarrh...	ORPHA:324636
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Adiposis Dolorosa	Recurrent skin infections, Diarrhea, Xerostomia, Arthritis, Constipation	ORPHA:36397
Hyperzincemia With Functional Zinc Depletion	Diarrhea, Skin rash	OMIM:601979
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux	OMIM:201475
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Reynolds Syndrome	Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia	OMIM:613471
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr...	ORPHA:31150
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed p...	ORPHA:77261
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s...	ORPHA:2968
Neuroblastoma, Susceptibility To, 1	Diarrhea, Anemia, Abdominal pain	OMIM:256700
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Abnormal liver lobulation	ORPHA:99776
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis	ORPHA:51890
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Steatorrhea	OMIM:619481
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell...	ORPHA:79083
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Sepsis, Hepatosplenomegaly, Anemia, Leukopenia, Increased circu...	ORPHA:505248
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis	OMIM:608654
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Cognitive impairment, Attention defi...	ORPHA:43
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Recurrent aspiration pneumonia, Thrombocytopenia	OMIM:230900
Familial Colorectal Cancer Type X	Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Malabsorption, Hepatocellular c...	ORPHA:440437
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac...	OMIM:610042
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Vacuolated l...	ORPHA:565612
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy	OMIM:616028
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Reye syndrome-like episodes, Leukocytosis, Diarrhea, Leukopenia, Thrombocytosis, Episod...	ORPHA:20
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abd...	ORPHA:100078
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m...	OMIM:251880
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam...	ORPHA:556
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Spl...	OMIM:253260
Li-Fraumeni Syndrome	Acute myeloid leukemia, Acute lymphoblastic leukemia, Neoplasm of the rectum, Colon cancer, Color...	ORPHA:524
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone...	OMIM:239200
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Hereditary Angioedema Type 1	Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,...	ORPHA:100050
Igg4-Related Pachymeningitis	Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatiti...	ORPHA:449427
Angioedema, Hereditary, 1	Diarrhea, Vomiting, Intestinal edema, Abdominal pain	OMIM:106100
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic ...	ORPHA:2796
Crimean-Congo Hemorrhagic Fever	Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbilliform rash, He...	ORPHA:99827
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Vomiting, Feeding difficulties	OMIM:177735
Grfoma	Neoplasm of the pancreas, Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstructio...	ORPHA:97261
Coffin-Lowry Syndrome	Rectal prolapse, High palate, Narrow palate	OMIM:303600
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se...	OMIM:619377
Urachal Cyst	Leukocytosis, Peritonitis, Abdominal mass, Abscess	ORPHA:488
Methanol Poisoning	Diarrhea, Vomiting, Abdominal pain	ORPHA:31825
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Brain abscess, Small intestinal polyposis, Juvenile gastrointestinal...	ORPHA:2929
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Cholestasis, Irritability, Portal ...	OMIM:207800
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi...	ORPHA:264580
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Mismatch Repair Cancer Syndrome 3	Neoplasm of the rectum, Colon cancer	OMIM:619097
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly, Hep...	ORPHA:333
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Colchicine Poisoning	Leukocytosis, Vomiting, Nausea, Diarrhea	ORPHA:31824
Mucopolysaccharidosis Type 6	Chronic otitis media, Splenomegaly, Sinusitis	ORPHA:583
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Jaundic...	ORPHA:99826
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Esophagitis, Feeding difficulties	ORPHA:79350
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia	ORPHA:729
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell...	ORPHA:3132
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Defective production of NFKB1-depen...	OMIM:612132
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Episodic vomiting, Vomiting, Diarrhea	OMIM:618321
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Congenital hypoparathyroidism, Recurrent bacterial infections, Decreased response...	OMIM:241410
Colorectal Cancer, Susceptibility To, 10	Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis	OMIM:612591
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me...	OMIM:115470
Lysinuric Protein Intolerance	Hepatomegaly, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Anemia, ...	ORPHA:470
Mednik Syndrome	Volvulus, Jejunal atresia, Microcolon, Diarrhea	OMIM:609313
Lassa Fever	Nausea and vomiting, Abdominal pain, Diarrhea, Conjunctivitis, Dysphagia	ORPHA:99824
Dpm1-Cdg	Diarrhea, Gastrostomy tube feeding in infancy, Hepatosplenomegaly	ORPHA:79322
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Simpson-Golabi-Behmel Syndrome	Splenomegaly, Increased circulating IgE level, Polysplenia	ORPHA:373
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Diarrhea, Vomiting, Decreased liver function	ORPHA:42
Tick-Borne Encephalitis	Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor...	ORPHA:297
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Splenomegaly, Diarrhea, Polycystic ovaries, Vomiting, Nausea, Anemia	ORPHA:79240
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Skin rash, Poor appetite, Diarrhea, Vomiting, Nausea	ORPHA:542323
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidism, Spherocytosis, Hyp...	ORPHA:251066
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Cocaine Intoxication	Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n...	ORPHA:90068
Diamond-Blackfan Anemia 7	Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Esophagitis, Neutropenia, Rec...	OMIM:612562
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Leukocytosis, Cervical lymphadenopathy, Hepatitis...	ORPHA:2331
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
Maternal Uniparental Disomy Of Chromosome 4	Acanthocytosis, Abnormal erythrocyte morphology, Diarrhea, Malnutrition, Fat malabsorption	ORPHA:96180
Carcinoid Syndrome	Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain, Small in...	ORPHA:100093
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci...	OMIM:610199
Familial Tumoral Calcinosis	Splenomegaly, Skin rash, Hepatomegaly	ORPHA:53715
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting	OMIM:212140
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Pancreatic cysts, Congenital hep...	ORPHA:564
Chromomycosis	Recurrent bacterial infections, Lymphangiectasis	ORPHA:182
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Wiedemann-Rautenstrauch Syndrome	Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level	OMIM:264090
Acrodermatitis Enteropathica	Glossitis, Poor appetite, Anorexia, Pustule, Malabsorption, Chronic diarrhea, Cheilitis, Furrowed...	ORPHA:37
Mucopolysaccharidosis, Type Ii	Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Recurrent pneumonia, Hepatosplenomegaly, M...	OMIM:309900
Ethylmalonic Encephalopathy	Diarrhea	ORPHA:51188
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Hepatomegaly, Parotitis, Cardiomegaly, Microcytic anemia, Splenomegaly, Erythema no...	OMIM:256040
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt...	ORPHA:1775
Sarcoidosis	Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidism, Hemoly...	ORPHA:797
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w...	ORPHA:64744
Mitochondrial Dna Depletion Syndrome 11	Chronic diarrhea, Nausea	OMIM:615084
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Decreased circulating complement factor B concentration, Increased circulating ...	ORPHA:2298
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I...	ORPHA:90340
Hereditary Hyperekplexia	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:3197
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ...	ORPHA:469
Congenital Myopathy 20	Chronic diarrhea, High palate	OMIM:620310
Wild Type Attr Amyloidosis	Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence	ORPHA:330001
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio...	ORPHA:1493
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Vomiting, Anemia	ORPHA:230
Vipoma	Neoplasm of the pancreas, Nausea and vomiting, Elevated circulating growth hormone concentration,...	ORPHA:97282
Blue Diaper Syndrome	Diarrhea	ORPHA:94086
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Diarrhea, Vomiting	OMIM:560000
Postinfectious Vasculitis	Viral hepatitis, Persistent human papillomavirus infection, Increased circulating IgA level, Orch...	ORPHA:48435
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal...	ORPHA:79277
Houge-Janssens Syndrome 1	Pyloric stenosis, Chronic diarrhea	OMIM:616355
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
19P13.13 Microdeletion Syndrome	Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult...	ORPHA:357001
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hepatitis	ORPHA:584
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis...	OMIM:158310
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Pituitary null cell ade...	ORPHA:913
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice...	OMIM:222470
Carnitine Palmitoyltransferase I Deficiency	Diarrhea, Feeding difficulties	OMIM:255120
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Constipation, High palate	OMIM:162300
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,...	ORPHA:294023
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Pericarditis, Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea, ...	OMIM:212065
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent infections, Sepsis, Anemia, Decreased circulating antibody level	ORPHA:79396
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Cryptorchidism, Lymphopenia, Hypothyroidism, Anemia	OMIM:616541
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi...	ORPHA:79276
Rift Valley Fever	Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia	ORPHA:319251
Encephalopathy, Ethylmalonic	Chronic diarrhea, Feeding difficulties	OMIM:602473
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Cholelithiasis, Thrombocy...	OMIM:263700
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation, Vomiting	OMIM:223900
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Young-Onset Parkinson Disease	Diarrhea, Constipation, Nausea, Gastroparesis	ORPHA:2828
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Chronic diarrhea, Feeding difficulties, Anemia, Dysphagia	OMIM:620358
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestinal tract, ...	ORPHA:221008
Japanese Encephalitis	Neutrophilia, Meningitis, Increased circulating IgM level, Increased circulating antibody level, ...	ORPHA:79139
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism	ORPHA:221120
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer	ORPHA:454840
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul...	ORPHA:309854
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Bloody diarrhea, Melena, Hemato...	ORPHA:464321
Rothmund-Thomson Syndrome	Aplastic anemia, Nasogastric tube feeding in infancy, Diarrhea, Vomiting, Neutropenia, Leukemia, ...	ORPHA:2909
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea	OMIM:608643
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An...	ORPHA:284
Familial Glucocorticoid Deficiency	Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Episodic abdominal pain, Vomit...	ORPHA:361
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Aggressive behavior, Bone-marrow foam cells, Splenomegaly, Jaundice,...	ORPHA:646
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Secretory diarrhea, Seborrheic dermatitis	OMIM:614441
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:97287
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Fumarase Deficiency	High palate, Necrotizing enterocolitis, Hepatic failure, Polycythemia	OMIM:606812
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder	ORPHA:70591
Chromosome 15Q25 Deletion Syndrome	Hyperactivity, Polysplenia, Macrocytic anemia, Attention deficit hyperactivity disorder	OMIM:614294
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas...	ORPHA:1199
Choreoacanthocytosis	Compulsive behaviors, Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movemen...	ORPHA:2388
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Jaundice, Leukocytosis, Pancreatic hyperplasia, Incr...	ORPHA:99829
Isotretinoin-Like Syndrome	Lymphopenia, Gastroesophageal reflux, Feeding difficulties	ORPHA:2306
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Impulsivity, Dysphagia, Mental deterioration, Emotional labi...	OMIM:610217
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba...	ORPHA:117
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia	OMIM:306955
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Adrenal hypoplasia, Asplenia, Splenom...	OMIM:249000
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:667
Cholera	Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting, Aspiration pneumonia	ORPHA:173
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestinal tract, ...	ORPHA:221016
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Glomerulonephritis, Abdominal pain, Hematemesis, Leukocytosis, Diarrhea, Acute tubuloi...	ORPHA:340
Amyloidosis, Hereditary, Transthyretin-Related	Episodic vomiting, Diarrhea, Constipation	OMIM:105210
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea	OMIM:618050
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Anemia, Incre...	ORPHA:355
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci...	OMIM:619472
Chronic Graft Versus Host Disease	Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric...	ORPHA:99921
Acute Adrenal Insufficiency	Normocytic anemia, Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation	ORPHA:95409
Trichothiodystrophy	Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Recur...	ORPHA:33364
Melas	Hypoparathyroidism, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiti...	ORPHA:550
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Chronic diarrhea, Anemia	OMIM:620072
Familial Gestational Hyperthyroidism	Goiter, Diarrhea, Thyroid hyperplasia	ORPHA:99819
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Diarrhea, Vomiting	ORPHA:263455
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis	ORPHA:79351
Microphthalmia, Syndromic 1	Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, High palate, Recur...	OMIM:309800
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly	OMIM:612918
Tracheobronchopathia Osteochondroplastica	Recurrent pneumonia, Pneumonia, Esophagitis	ORPHA:3348
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Decreased circulating IgA level	ORPHA:457485
Dubowitz Syndrome	Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Decreased circulating IgG le...	OMIM:223370
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocellular carcinom...	OMIM:276700
Encephalitis Lethargica	Increased circulating antibody level, Recurrent viral infections	ORPHA:83600
Addison Disease	Normocytic anemia, Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Thiamine-respon...	ORPHA:85138
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent...	ORPHA:2131
Hepatoerythropoietic Porphyria	Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Keratoconjunctivitis, Scleri...	ORPHA:95159
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Diarrhea, Thyroid hyperplasia	ORPHA:424
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Diabetes mellitus, Paradoxical incre...	ORPHA:96253
Sandhoff Disease	Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly	OMIM:268800
Cholestasis, Progressive Familial Intrahepatic, 6	Chronic diarrhea	OMIM:619484
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Vomiting, Diarrhea	OMIM:610768
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati...	ORPHA:276152
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar...	ORPHA:95455
Khan-Khan-Katsanis Syndrome	Lymphopenia, Anemia, Neutropenia	OMIM:618460
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Anorectal anomaly, Chronic diarrhea...	ORPHA:647
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Distal Renal Tubular Acidosis	Hemolytic anemia, Poor appetite, Diarrhea, Constipation, Vomiting	ORPHA:18
Mucopolysaccharidosis, Type Iiid	Splenomegaly, Diarrhea, Macroglossia, Dysphagia, Recurrent otitis media, Tube feeding	OMIM:252940
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pheochromocy...	ORPHA:652
Cockayne Syndrome Type 1	Cryptorchidism, Diarrhea, Anemia	ORPHA:90321
Trichothiodystrophy 5, Nonphotosensitive	Chronic diarrhea, Panhypopituitarism, Decreased testicular size	OMIM:300953
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Feeding difficulties, Esophagitis, Hepatosplenomegaly	ORPHA:541423
Microphthalmia With Linear Skin Defects Syndrome	Feeding difficulties, Abnormal rectum morphology, Abnormality of the anus	ORPHA:2556
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Feeding difficulties in infancy, Diarrhea, Narrow palate, High palate, Vomiting	OMIM:608836
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Camurati-Engelmann Disease	Hepatomegaly, Splenomegaly, Leukopenia, Hypogonadism, Delayed puberty, Anemia	ORPHA:1328
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Vomiting	ORPHA:71212
Familial Hypoaldosteronism	Nausea and vomiting, Diarrhea, Feeding difficulties	ORPHA:427
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Anemia, Neutropenia	ORPHA:175
Fructose-1,6-Bisphosphatase Deficiency	Reye syndrome-like episodes, Diarrhea, Vomiting	ORPHA:348
Al Amyloidosis	Howell-Jolly bodies, Increased circulating antibody level, Anemia	ORPHA:85443
Hardikar Syndrome	Hepatomegaly, Intrahepatic bile duct cysts, Decreased serum insulin-like growth factor 1, Cholang...	OMIM:301068
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Splenomegaly, ...	OMIM:269700
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Cryptorchidism, Chronic diarrhea, Chronic constipation, Throm...	OMIM:619005
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic fibros...	ORPHA:2072
Serotonin Syndrome	Diarrhea, Hepatic failure, Nausea	ORPHA:43116
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Depression, Neoplasm of t...	ORPHA:77293
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia	OMIM:265380
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Increased circulating antibody level	ORPHA:86816
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr...	OMIM:274000
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Secretory diarrhea, Seborrheic dermatitis	OMIM:167100
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Chronic diarrhea, Keratoconjunctivitis sicca, Erythroderma	OMIM:601675
Velocardiofacial Syndrome	Hypoparathyroidism, Cryptorchidism, Impaired T cell function, Recurrent infections	OMIM:192430
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux,...	ORPHA:500055
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Deeah Syndrome	Decreased hemoglobin concentration, Anterior pituitary hypoplasia, Decreased response to growth h...	OMIM:619004
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Secretory diarrhea, Elevated stool chloride content	OMIM:214700
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi...	OMIM:608594
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Optic neuri...	ORPHA:509
Trichohepatoneurodevelopmental Syndrome	Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, High palate, Decreased liver ...	OMIM:618268
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic...	OMIM:619991
Sacral Defect With Anterior Meningocele	Constipation, Rectal abscess	OMIM:600145
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Osteomyelitis leading t...	OMIM:256810
Primary Biliary Cholangitis	Onychomycosis, Increased circulating IgM level, Recurrent fungal infections, Increased circulatin...	ORPHA:186
Turner Syndrome Due To Structural X Chromosome Anomalies	Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin...	ORPHA:99413
Mosaic Monosomy X	Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin...	ORPHA:99228
Monosomy X	Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin...	ORPHA:99226
Turner Syndrome	Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin...	ORPHA:881
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Poor appetite, Diarrhea, Hepatosplenomegaly, Anemia	ORPHA:247598
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Poor appetite, Feeding difficulties in infancy, High, narrow palate, Vomiting, Gastroesophageal r...	ORPHA:96182
Congenital Disorder Of Glycosylation, Type It	Chronic diarrhea, Hepatitis, Cleft palate, Chronic hepatitis, Vomiting, Recurrent otitis media, B...	OMIM:614921
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate	ORPHA:457279
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t...	ORPHA:744
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity	OMIM:620047
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Lymphadenopathy, Cognitive impairment, Ascites, Pulmonary ly...	ORPHA:538
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Psoriasiform dermatitis,...	ORPHA:2237
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Abetalipoproteinemia	Reticulocytosis, Acanthocytosis, Chronic diarrhea, Keratoconjunctivitis sicca, Vomiting, Steatorr...	ORPHA:14
Orofaciodigital Syndrome Type 4	High, narrow palate, Submucous cleft hard palate, Rectal atresia, Cleft palate, Perineal fistula,...	ORPHA:2753
Dermatosparaxis Ehlers-Danlos Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:1901
Localized Scleroderma	Fasciitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagitis, Hashimoto thyroiditis	ORPHA:90289
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Secretory diarrhea, Protein-losing enteropathy, Feeding difficulties	OMIM:618183
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Abdominal distention, Cervical lymphadenopathy, Primary hyperparathyr...	ORPHA:653
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Aspartylglucosaminuria	Macroorchidism, Diarrhea, Vacuolated lymphocytes, Neutropenia	OMIM:208400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Feeding difficulties in infancy, High palate, Gastroesophageal reflux, Blepharitis...	ORPHA:280633
Monosomy 18Q	Bilateral cryptorchidism, Hypothyroidism, Secondary growth hormone deficiency, Decreased circulat...	ORPHA:1600
Cerebrotendinous Xanthomatosis	Cholelithiasis, Pseudobulbar paralysis, Diarrhea	OMIM:213700
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy, Depression	ORPHA:324625
Glycogen Storage Disease Ia	Gout, Protuberant abdomen, Hepatocellular carcinoma, Intermittent diarrhea, Pancreatitis	OMIM:232200
Pitt-Hopkins Syndrome	Aganglionic megacolon, Hiatus hernia, Feeding difficulties, Constipation, Gastroesophageal reflux...	ORPHA:2896
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Mucopolysaccharidosis Type 3	Malabsorption, Splenomegaly, Dysphagia, Macroglossia, Constipation, Otitis media, Aspiration pneu...	ORPHA:581
Gitelman Syndrome	Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Diarrhea, Iron deficiency anemia, ...	ORPHA:358
Hurler Syndrome	Splenomegaly, Chronic diarrhea, Feeding difficulties	ORPHA:93473
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Ogden Syndrome	Eczema, Diarrhea, Narrow palate, Feeding difficulties, Dysphagia, Iron deficiency anemia, Vomitin...	OMIM:300855
Alg9-Cdg	Villous atrophy, Diarrhea, Gastroesophageal reflux, Vomiting, Bifid uvula	ORPHA:79328
African Trypanosomiasis	Hepatomegaly, Pericarditis, Keratitis, Splenomegaly, Jaundice, Myocarditis, Abnormality of the en...	ORPHA:3385
Acute Liver Failure	Gastrointestinal hemorrhage, Skin rash, Diarrhea, Hepatitis, Vomiting, Nausea, Thrombocytopenia	ORPHA:90062
Progeroid Short Stature With Pigmented Nevi	Diabetes mellitus, Delayed puberty, Impaired T cell function, Recurrent viral infections	OMIM:176690
Scleromyxedema	Paraproteinemia	ORPHA:167635
9Q33.3Q34.11 Microdeletion Syndrome	Constipation, Esophagitis, Dysphagia	ORPHA:495818
Histidinemia	Hyperactivity	ORPHA:2157
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Omphalocele Syndrome, Shprintzen-Goldberg Type	Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia	ORPHA:3164
Arterial Tortuosity Syndrome	Hiatus hernia, Pyloric stenosis, Myocarditis, Gastroesophageal reflux, Esophagitis, Median cleft ...	ORPHA:3342
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Sponastrime Dysplasia	Decreased circulating antibody level, Recurrent pneumonia, Neutropenia	ORPHA:93357
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p...	ORPHA:158668
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353281
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Achalasia, Esophagitis, Feeding difficulties	OMIM:615356
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Abnormality of the tongue muscle, Nasog...	ORPHA:273
Proximal Renal Tubular Acidosis	Diarrhea, Vomiting, Malabsorption	ORPHA:47159
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Vomiting, Diarrhea, Constipation	OMIM:601678
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cryptorchidism, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infec...	ORPHA:2273
Mowat-Wilson Syndrome	Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric stenosis, Gastrointestinal dysmotili...	ORPHA:2152
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Chronic diarrhea, Feeding ...	OMIM:615873
Occipital Horn Syndrome	Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Gastroesophageal reflux, Esophagiti...	ORPHA:198
Cysticercosis	Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Scorpion Envenomation	Acute pancreatitis, Abdominal pain, Myocarditis, Diarrhea, Vomiting	ORPHA:466677
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an...	ORPHA:91500
Zttk Syndrome	Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhea, Feeding difficult...	OMIM:617140
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Recurrent infec...	ORPHA:261537
Hereditary Sensory And Autonomic Neuropathy Type 4	Abscess, Aplasia of the sweat glands, Recurrent Staphylococcus aureus infections, Tooth abscess, ...	ORPHA:642
Penile Agenesis	Anorectal anomaly, Tracheoesophageal fistula, Anal atresia, Rectal fistula	ORPHA:49
Lipodystrophy, Familial Partial, Type 7	Diarrhea, Feeding difficulties, Recurrent pancreatitis, Vomiting, Dysphagia	OMIM:606721
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353277
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Recurrent infec...	ORPHA:261552
Bartter Syndrome, Type 2, Antenatal	Constipation, Vomiting, Diarrhea	OMIM:241200
Mucopolysaccharidosis Type 2, Severe Form	Splenomegaly, Chronic diarrhea, Hepatosplenomegaly	ORPHA:217085
Occipital Horn Syndrome	Chronic diarrhea, High palate, Hiatus hernia	OMIM:304150
Mucopolysaccharidosis Type 2, Attenuated Form	Splenomegaly, Chronic diarrhea, Hepatosplenomegaly	ORPHA:217093
Mucopolysaccharidosis Type 2	Splenomegaly, Chronic diarrhea	ORPHA:580
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Exocrine pancreatic insufficiency, Feeding difficulties, Aplasia/Hypoplasia of the gallbladder, I...	ORPHA:2255
Nmda Receptor Encephalitis	Ovarian teratoma, Diarrhea, Vomiting, Testicular teratoma	ORPHA:217253
Cerebrotendinous Xanthomatosis	Cholelithiasis, Chronic diarrhea	ORPHA:909
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, C...	ORPHA:500150
Carney Complex	Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Hepatocellular carcinoma, T...	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 Jak3

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 Jak3.

No publications found that use IMPC mice or data for Jak3.

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MGI Allele	Allele Type	Produced
Jak3^{tm456803(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Jak3^em1(IMPC)Mbp	Inter-exon deletion	Mice
Jak3^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Jak3 MGI:99928

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E9.5

Gross Morphology Embryo E9.5

Gross Morphology Embryo E18.5

Human diseases caused by Jak3 mutations

Histopathology

IMPC related publications

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