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Gene: Rigi MGI:2442858

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Gene Summary

Name:
RNA sensor RIG-I
Synonyms:
6430573D20Rik,  RIG-I,  Ddx58,  DEAD (Asp-Glu-Ala-Asp) box polypeptide 58

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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 System Allele Zyg Sex Life Stage P Value
hyperactivity Ddx58em1(IMPC)Mbp HOM Early adult 7.89×10-26
small liver Ddx58em1(IMPC)Mbp HOM Early adult 0.00
impaired glucose tolerance Ddx58em1(IMPC)Mbp HOM Early adult 2.71×10-06
abnormal liver morphology Ddx58em1(IMPC)Mbp HOM 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

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

54 Images

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Eye Morphology

Images Slit Lamp

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Rigi 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Singleton-Merten Syndrome 2
OMIM:616298

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedulla... OMIM:615285
Immunodeficiency 76
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... OMIM:619164
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis OMIM:619398
Immunodeficiency 36
B-cell lymphoma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, E... OMIM:616005
Systemic Mastocytosis With Associated Hematologic Neoplasm
Multiple myeloma, Hepatomegaly, Neutrophilia, Diarrhea, Weight loss, Lymphadenopathy, Abnormal ma... ORPHA:98849
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Otitis media, Splenomegaly, Eczema, Diarrhea, T lymphocyto... OMIM:608971
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... OMIM:615615
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... OMIM:617006
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat... OMIM:614470
Mantle Cell Lymphoma
B-cell lymphoma, Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, ... ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, A... OMIM:300635
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Thrombocytopenia, Anemia,... OMIM:133180
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Lymphoma, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:153600
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Immunodeficiency, Common Variable, 11
Failure to thrive, Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... OMIM:615767
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, T lymphoc... OMIM:618108
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... OMIM:618394
Immunodeficiency 105
B-cell lymphoma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... OMIM:619924
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Diarrhea, Thrombocytopenia, Decreased proportion of CD4+CD25+ regulator... OMIM:619802
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Eczema, Monocytosis, Leukopenia, Lymphoma, Myelodysplasia, Refractory anemia, Bone marrow hypocel... OMIM:616871
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Myelodysplasia, Thrombocytosis, Weight loss, Acute my... ORPHA:71493
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Immunodeficiency 19
Failure to thrive, Diarrhea, Lymphopenia, Recurrent otitis media OMIM:615617
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Immunodeficiency 24
Lymphopenia, Decreased circulating IgG level, Defective T cell proliferation, Lymphoproliferative... OMIM:615897
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphoproliferative disorder, Lymphadenitis, P... ORPHA:911
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... ORPHA:277
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Splenomegaly, Recurrent skin infectio... OMIM:612840
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Anorexia, Extramedullary hematopoiesis, Hepatosplenomeg... ORPHA:824
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Colitis, Hepatosplenomegaly, Sterile abscess, Arthritis, Pancytopenia, Thrombocytosi... OMIM:604416
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Feeding difficultie... OMIM:616050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Multiple myeloma, Hemophagocytosis, Hepatic failure, T-cell lymphoma, Pancytopenia, Burkitt lymph... ORPHA:158057
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobu... OMIM:269840
Mastocytosis
Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Mastocytosis, Sarcoma, Chronic leukemia, Gastroin... ORPHA:98292
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Chronic oral candidiasis, Hepatomegaly, Skin ... OMIM:300400
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 52
Failure to thrive, Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-d... OMIM:617514
Aggressive Systemic Mastocytosis
Abdominal cramps, Maculopapular exanthema, Diarrhea, Increased proportion of CD25+ mast cells, Pa... ORPHA:98850
Sweet Syndrome
Oligoarthritis, Neoplasm, Pustule, Neutrophilia, Leukocytosis, Breast carcinoma, Acne inversa, St... ORPHA:3243
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Arthritis, T lym... OMIM:601457
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom... OMIM:300853
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, B lymphocytopenia, Thrombocytopenia, Decreased specific antibody re... OMIM:614700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation OMIM:131440
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Ileal ulcer, Hemolytic anemia, Thrombocytopenia OMIM:616744
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... ORPHA:231401
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... OMIM:209950
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... ORPHA:100024
Glioma Susceptibility 9
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma OMIM:616568
Generalized Eruptive Histiocytosis
Histiocytosis, Maculopapular exanthema, Leukemia, Hypereosinophilia ORPHA:157991
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi... ORPHA:86841
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal... ORPHA:33355
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Thro... ORPHA:3226
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Bone marrow hypocel... OMIM:619041
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Unclassified Myelodysplastic Syndrome
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... ORPHA:98827
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Atopic dermatitis, Pneumonia, T lymphocytop... OMIM:618806
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Lymphadenitis, Hepatos... OMIM:618935
Immunodeficiency 69
Failure to thrive, Leukocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Diarrhea, Thrombocy... OMIM:618963
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... ORPHA:66661
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Anorexia, Lymphoma, Weight loss, L... ORPHA:86893
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem... ORPHA:90033
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Hematochezia, Blepharitis, Conjunctivitis, Inflammation of the l... ORPHA:906
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intes... OMIM:617718
Immunodeficiency 64
Failure to thrive, B-cell lymphoma, Decreased circulating IgG level, Increased circulating IgA le... OMIM:618534
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio... OMIM:618987
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... OMIM:607271
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymp... ORPHA:2442
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... ORPHA:444463
Fanconi Anemia, Complementation Group D1
Anal atresia, T-cell acute lymphoblastic leukemias, Failure to thrive, Bone marrow hypocellularit... OMIM:605724
Immunodeficiency 15A
Acne inversa, Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased propor... OMIM:618204
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, T-cell lymphoma, Bloody diarrhea, Colonic atresia, Jejunal atresia, Lymphopenia, En... OMIM:243150
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... OMIM:608809
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... OMIM:614172
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Tube feeding, Lymphopenia, Decreased circulating IgE, Decreased circulating IgA l... OMIM:619510
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypoc... OMIM:615190
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 8
Hyperactivity OMIM:615401
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased ci... ORPHA:169154
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogam... OMIM:209920
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Abdominal pain, Re... ORPHA:486
Lymphedema, Primary, With Myelodysplasia
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymphoma, Basal... ORPHA:3261
Simple Cryoglobulinemia
B-cell lymphoma, Multiple myeloma, Viral hepatitis, Nephritis, Abdominal pain, Membranoproliferat... ORPHA:91139
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Abdominal pain, Otitis media, Recurrent ski... ORPHA:2686
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Hyp... OMIM:212050
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Colitis, Lymphocytosis, Abdominal pain, Skin rash, Diarrhea, Inflammation of t... OMIM:301074
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia OMIM:614743
Autoinflammation, Immune Dysregulation, And Eosinophilia
Failure to thrive, Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Eosino... OMIM:618999
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Pyoderma, Aplasia of the thymus, Abnormall... OMIM:242700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Recurrent otitis media, Lymphopenia, Absent peripheral lymph nodes in presence... OMIM:600802
Amed Syndrome, Digenic
Failure to thrive, Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thrombocytope... OMIM:619151
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess OMIM:613148
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, Abdominal pain, Splenomegaly, Reduced alp... ORPHA:90039
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Anorexia, Cervical lymphadenopathy, Acute monocy... ORPHA:514
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Chronic ot... ORPHA:217390
Galactose Epimerase Deficiency
Hepatomegaly, Feeding difficulties, Splenomegaly, Weight loss, Nausea and vomiting, Jaundice ORPHA:79238
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly OMIM:619175
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r... OMIM:618986
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Abnormality of the peritoneum,... ORPHA:26790
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... ORPHA:231154
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Pfapa Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Arthritis, Weight loss, Infectious enc... ORPHA:42642
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Diarrhea, Incr... OMIM:618495
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphoma, Abnormality of the small int... ORPHA:100025
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... OMIM:619126
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Splenomegaly, Anorexia, Lymphoma, Weight loss, Lymphadenopathy ORPHA:98293
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Abdominal distention, Hepatomegaly, Abdominal pain, Ovarian neop... ORPHA:83469
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... OMIM:615518
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Diarrhea, Abscess, B lymphocytopenia, Intermittent thromb... OMIM:150550
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Leukopenia, Abnormal ... ORPHA:507
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Thymoma
Neoplasm, Rheumatoid arthritis, Neoplasm of the gastrointestinal tract, Myositis, Aplastic anemia... ORPHA:99867
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Decreased circulatin... OMIM:616100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Gastroesophageal reflux, Cirrhosis, Mediastinal lymphadenopathy, Aplastic anemia, Myeloid leukemi... OMIM:614742
Hereditary Spherocytosis
Cholelithiasis, Abdominal distention, Hepatomegaly, Abdominal pain, Splenomegaly, Spherocytosis, ... ORPHA:822
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Acute otitis media, Lack of T cell function, Recurrent infection of the gastrointestinal tract, C... ORPHA:35078
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Colitis, Hepatomegaly, Cholestatic liver disease, Skin rash, Splenomega... ORPHA:540
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Failure to thrive in infancy, ... ORPHA:37042
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Extramedull... OMIM:259710
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Eczema, Decreased prop... OMIM:617241
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss, Decreased proportion of... OMIM:619381
Eosinophilic Gastroenteritis
Malabsorption, Abdominal pain, Steatorrhea, Leukocytosis, Atopic dermatitis, Diarrhea, Abnormalit... ORPHA:2070
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... OMIM:619375
Lymphoproliferative Syndrome, X-Linked, 1
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepat... OMIM:308240
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Anemia of inadequate production, Decreased mean corpusc... ORPHA:231222
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Skin rash, Splenomegaly, Hemophagocytosis, Thrombocytopenia, Neutropenia,... OMIM:603552
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Abdominal pain, Leukocytosis, Diarrhea, Constrictive pericarditis... ORPHA:67
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... OMIM:247800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Wolman Disease
Abdominal distention, Hepatomegaly, Steatorrhea, Hepatic failure, Splenomegaly, Anemia, Cachexia,... ORPHA:75233
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Myeloid leukemia, ... ORPHA:48104
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Chronic oral candidiasis, Chronic decreased cirulat... OMIM:615607
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Abdominal pain, Myeloproliferative disorder, Diarrhea, Abnormality o... ORPHA:79456
Esophagitis, Eosinophilic, 2
Failure to thrive, Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Eosinophilia, Vomiting, Esophagitis, Dysphagia OMIM:610247
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 68
Recurrent skin infections, Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal... OMIM:612260
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgE level, Increased circula... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abdominal pain, Abnormality of the lymph nodes, Diarrhea, Brain abscess, Abnormalit... ORPHA:54251
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... ORPHA:572
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, ... OMIM:602450
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Arthritis, Increased circulating I... ORPHA:37748
N Syndrome
Neoplasm, Leukemia OMIM:310465
Chilblain Lupus
Discoid lupus rash, Increased circulating antibody level, Inflammatory abnormality of the skin, S... ORPHA:90280
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Lymphoproliferative disorder, Diarrhea, Pneumonia, Jaundice, Decreased proportion o... ORPHA:276
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Thyroiditis, Decreased circulating IgA level, Decreased specific ant... OMIM:606367
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Weight loss, Ascites, Abno... ORPHA:2198
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Burkitt Lymphoma
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... ORPHA:543
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Immunodeficiency 16
Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Abdominal pain, Splenomegaly OMIM:118830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Decrea... OMIM:619652
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Lymphoproliferative Syndrome 2
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... OMIM:615122
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... OMIM:612567
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... ORPHA:79140
Felty Syndrome
Sinusitis, Hepatomegaly, Splenomegaly, Anemia, Chronic otitis media, Abnormal lymphocyte morpholo... ORPHA:47612
Lymphoproliferative Syndrome 1
Hodgkin lymphoma, B-cell lymphoma, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, L... OMIM:613011
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Diarrhea, Eosinophilia, ... OMIM:603554
Indolent Systemic Mastocytosis
Abdominal cramps, Hepatomegaly, Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopap... ORPHA:98848
Pgm3-Cdg
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow ... ORPHA:443811
Classic Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Skin rash, Splenomegaly, Anorexia, Lymphoma, Bone marrow hypocellularity,... ORPHA:391
Shigellosis
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Abscess, Vomiting, Myocarditis, Choles... ORPHA:810
Isolated Agammaglobulinemia
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Abnormality of th... ORPHA:229717
Immunodeficiency, Common Variable, 2
Neoplasm, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenom... OMIM:240500
Refractory Celiac Disease
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Increased proportion of HLA ... ORPHA:398063
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Steatorrhea, Hepatic failure, Extramedulla... ORPHA:79303
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Rhabdoid Tumor
Neoplasm of the liver, Abdominal pain, Renal neoplasm, Anemia, Neoplasm of the central nervous sy... ORPHA:69077
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Weight loss, ... ORPHA:545
Majeed Syndrome
Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, H... ORPHA:77297
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Cardiomegaly ORPHA:88643
Familial Cold Autoinflammatory Syndrome 2
Abdominal pain, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis, ... OMIM:611762
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Chronic oral candidiasis, Lymphopenia, Decreased circulatin... ORPHA:169160
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... OMIM:603909
X-Linked Agammaglobulinemia
Abnormality of the tonsils, Weight loss, Malabsorption, Osteomyelitis, Arthritis, Hepatitis, Anem... ORPHA:47
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Feeding difficulties, Splenomegaly, Extramedullary hematopoies... ORPHA:231226
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... OMIM:619858
Primary Erythromelalgia
Leukemia ORPHA:90026
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Decreased circulating IgA level, Hepatomegaly, Lymphope... ORPHA:331206
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia ORPHA:64741
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Bloody diarrhea, Defective T cell proliferation, Eosinophilic infiltration of ... OMIM:618213
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Immunodeficiency 98 With Autoinflammation, X-Linked
Neutropenia, Chronic oral candidiasis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Decreased ci... OMIM:301078
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Feeding difficu... ORPHA:231214
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Abdominal pain, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenop... OMIM:618852
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... OMIM:601399
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Hepatomegaly, Feeding difficulties, Splenomegaly, Anemia, Thrombocytopenia OMIM:615085
Neurofibromatosis Type 1
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Neoplasm of the... ORPHA:636
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Hepatomegaly, Skin rash, Splenomegaly, Eczema, Lymphoma, Abnormal lymp... ORPHA:2584
Ataxia-Telangiectasia
Failure to thrive, Sinusitis, Hodgkin lymphoma, Lymphopenia, Decreased circulating IgA level, Dec... OMIM:208900
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Eczema, Lymphadeniti... OMIM:615895
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Malabsorption, Neoplasm, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Autoimmune Hepatitis
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, H... ORPHA:2137
Laryngeal Neuroendocrine Tumor
Anorexia, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Neoplasm of the larynx,... ORPHA:100083
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Hepatosplenomegaly, Diarrhea, Absence of lymph node germ... ORPHA:79124
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Decreased proportion of CD8-positive T cells, Reduced nat... OMIM:614493
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Galactosemia Iii
Failure to thrive, Hepatomegaly, Splenomegaly, Vomiting, Jaundice OMIM:230350
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Single lineage myelodysplasia, Abnormal mean corpu... ORPHA:86839
Sepsis In Premature Infants
Decreased liver function, Decreased body weight, Abdominal distention, Enterocolitis, Hepatomegal... ORPHA:90051
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Obesity OMIM:605309
Wiskott-Aldrich Syndrome
Melena, Lymphoproliferative disorder, Eczema, Diarrhea, Decreased mean platelet volume, Abnormal ... OMIM:301000
Isolated Congenital Hypoglossia/Aglossia
Feeding difficulties, Cleft palate, Aspiration pneumonia, Hamartoma, Weight loss, Nasogastric tub... ORPHA:141152
Essential Thrombocythemia
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Immunodeficiency 58
Failure to thrive, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, Helicobacter pyl... OMIM:618131
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... ORPHA:79301
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Malabsorption, Sinusitis, Decreased circulating IgA level, Macroglossia, Diarr... OMIM:242860
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis, Panniculitis ORPHA:86884
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... ORPHA:90362
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Aplastic anemia, Macrocytic... ORPHA:811
Kaposi Sarcoma
Skin rash, Hemangioma, Lymphoproliferative disorder, Diarrhea, Abnormality of the spleen, Abnorma... ORPHA:33276
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Abdominal pain, Acute hepatic failure, Splenomegaly, Cirrhosis, Peri... ORPHA:131
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Lig4 Syndrome
Malabsorption, Hepatomegaly, Leukocytosis, Lymphoma, Pancytopenia, Lymphadenopathy, Acute leukemia ORPHA:99812
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... ORPHA:324964
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Splenomeg... OMIM:614576
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Weight loss ORPHA:3165
Secondary Short Bowel Syndrome
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... ORPHA:95427
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte tra... OMIM:619313
Idiopathic Achalasia
Gastroesophageal reflux, Recurrent aspiration pneumonia, Malnutrition, Dysphagia, Weight loss ORPHA:930
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Trichohepatoenteric Syndrome 2
Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ... OMIM:614602
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Neoplasm of the liver, Jaundice, Ab... ORPHA:1333
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... OMIM:308230
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Vomiting, Erythroderma, Portal fibr... ORPHA:3260
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... ORPHA:846
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... OMIM:612714
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia OMIM:618309
Cronkhite-Canada Syndrome
Malabsorption, Neoplasm, Hepatomegaly, Abdominal pain, Stomach cancer, Anorexia, Splenomegaly, Ca... ORPHA:2930
Waldenström Macroglobulinemia
Malabsorption, Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Normocytic anemia, Lymphoma, Abnor... ORPHA:33226
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Eczema, Atopic dermatitis, Eosinophilia, Decreased ci... OMIM:243700
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss, Mediastinal lymphadenopathy, Lymphocyti... ORPHA:133
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto... OMIM:102700
Omenn Syndrome
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte mo... ORPHA:39041
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... ORPHA:84064
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Stomach cancer... ORPHA:125
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Constipation, Hypersegmentation of neutroph... ORPHA:35858
Gaucher Disease, Type Ii
Failure to thrive, Hepatomegaly, Feeding difficulties, Splenomegaly, Recurrent aspiration pneumon... OMIM:230900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Pancreatitis, Hepatomegaly, Abdominal pain, Feeding difficulties, Anorexia, Sp... ORPHA:79312
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi... ORPHA:70593
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Pancreatitis, Hepatomegaly, Splenomegaly, Recurrent pancreatitis OMIM:615947
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Meningioma, Nephroblastoma OMIM:602501
Hirschsprung Disease, Susceptibility To, 1
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... OMIM:142623
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Polycythemia Vera
Hepatomegaly, Abdominal pain, Splenomegaly, Myelodysplasia, Portal hypertension, Gastrointestinal... ORPHA:729
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Leukocytosis, Splenomegaly, Hepatic failure, Extramedullary hematopoiesis, Hepatosp... OMIM:259720
Gray Platelet Syndrome
Myelodysplasia, Thrombocytopenia, Splenomegaly ORPHA:721
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Enterocolitis, Neutropenia in presence of anti... ORPHA:391487
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss, Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly ORPHA:796
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Acute hepatic failure ORPHA:882
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Weight loss, Abnormal eosinophil morphology ORPHA:1164
Thymic Aplasia
Decreased proportion of naive T cells, Malabsorption, Eczematoid dermatitis, Recurrent infection ... ORPHA:83471
Sézary Syndrome
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal immunoglobulin level, E... ORPHA:3162
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Anemia, Arthriti... ORPHA:905
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia, Abnormal stomach morphology ORPHA:281090
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 54
Failure to thrive, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Lymphadenopathy, Red... OMIM:609981
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Leukocytosis, Peri... ORPHA:90038
Intestinal Dysmotility Syndrome
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... OMIM:620045
Coproporphyria, Hereditary
Constipation, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Vomiting, Increased fecal cop... OMIM:121300
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Acute hepatic failure, Lymphocytosis, Interstitial pneumonitis, Eosinophilia,... ORPHA:139402
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Combined Saposin Deficiency
Hepatomegaly, Feeding difficulties, Splenomegaly OMIM:611721
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... OMIM:613179
Gamma-Heavy Chain Disease
Hepatomegaly, Skin rash, Splenomegaly, Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia,... ORPHA:100026
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells, Diarrhea, Panniculitis OMIM:615758
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Enchondroma, Hepatosplenomegaly, Myositis, Chilblains, Arth... ORPHA:51
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Constipation, Gastroesophageal reflux, Abdominal pain, Intest... ORPHA:263665
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Acute leukemia ORPHA:2770
Shwachman-Diamond Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Steatorrhea, Per... OMIM:260400
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Sinusitis, Increased circulating antibody level, Hepatomegaly, Lymphopenia, Sk... OMIM:617591
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Gastrointestinal stroma tumor, Otitis media, Splenomegaly, Autoimmune ... ORPHA:1572
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Turcot Syndrome With Polyposis
Melena, Constipation, Hepatoblastoma, Diarrhea, Vomiting, Soft tissue neoplasm, Hematochezia, Bas... ORPHA:99818
Porphyria Due To Ala Dehydratase Deficiency
Constipation, Abdominal distention, Abdominal pain, Myeloproliferative disorder, Diarrhea, Episod... ORPHA:100924
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis OMIM:613960
Linear Iga Dermatosis
Renal neoplasm, Bladder neoplasm, Inflammation of the large intestine ORPHA:46488
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Abdominal rigidity, Vomiting, Cholestasis, Esop... ORPHA:53035
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Vomiting, Macrocytic ... OMIM:617780
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small... ORPHA:298
Zygomycosis
Melena, Pancreatitis, Unusual gastrointestinal infection, Gastritis, Diarrhea, Vomiting, Acute in... ORPHA:73263
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... OMIM:613470
Sea-Blue Histiocytosis
Blepharitis, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thr... ORPHA:158029
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Hepatic bridging fibrosis, Esopha... OMIM:278000
Immunodeficiency 32B
Bronchiectasis, Sinusitis, Pneumonia, Splenomegaly OMIM:226990
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu... OMIM:613662
Hemochromatosis, Type 4
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... OMIM:606069
Babesiosis
Hepatomegaly, Splenomegaly, Anorexia, Hepatic failure, Leukopenia, Hemolytic anemia, Nausea and v... ORPHA:108
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Infantile Sialic Acid Storage Disease
High palate, Failure to thrive, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Card... OMIM:269920
Hirschsprung Disease
Constipation, Abdominal pain, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Int... ORPHA:388
Niemann-Pick Disease, Type A
Failure to thrive, Sea-blue histiocytosis, Constipation, Hepatomegaly, Splenomegaly, Vomiting, Fe... OMIM:257200
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Igg4-Related Aortitis
Increased circulating antibody level, Abdominal pain, Intestinal obstruction, Increased circulati... ORPHA:449400
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia OMIM:259730
Laryngotracheoesophageal Cleft Type 4
Intestinal atresia, Tracheoesophageal fistula, Cachexia, Abnormality of the spleen, Abnormality o... ORPHA:93941
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Pyloric stenosis, Abnormality of neutro... ORPHA:381
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... OMIM:618849
Acute Promyelocytic Leukemia
Neutropenia, Abdominal pain, Leukocytosis, Anorexia, Leukopenia, Thrombocytopenia, Stomatitis, We... ORPHA:520
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Farber Lipogranulomatosis
Failure to thrive, Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis OMIM:228000
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circula... OMIM:617388
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Abdominal pain, Skin rash, Splenomegaly, Leukocytosis, Myocarditis, A... ORPHA:829
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Osteomyelitis, Optic neuritis, Decreased circulating IgG level, Hepatosplenomegaly, D... OMIM:301081
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Nausea and vomiting, Inflammatory abnorm... ORPHA:33577
Griscelli Syndrome Type 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Neutropenia, Nausea and vomiting, Lym... ORPHA:79477
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased... ORPHA:90003
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Atopic dermatitis, Abnormality of the gastrointestinal tract, Hypereosinophilia, We... ORPHA:2902
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Skin rash, Abdominal pain, Leukocytosis, Diarrhea,... OMIM:617099
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Cholestasis, Jaundice, Fee... OMIM:619573
Cholestasis-Lymphedema Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Neonatal cholestatic liver dise... OMIM:214900
Storage Pool Platelet Disease
Myelodysplasia, Acute leukemia, Decreased mean platelet volume OMIM:185050
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... ORPHA:309031
Chronic Granulomatous Disease
Malabsorption, Sinusitis, Hepatomegaly, Otitis media, Splenomegaly, Tracheoesophageal fistula, Ec... ORPHA:379
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Diarrhea, Esophageal varix, Nausea and vo... ORPHA:75234
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abdominal pain, Splenomegaly, Lymphoma, Hemolytic anemia ORPHA:98375
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Splenomegaly, Pancytopenia, Anemia, Panniculitis OMIM:618398
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils ORPHA:154
Brucellosis
Hepatomegaly, Vomiting, Myocarditis, Thrombocytopenia, Epididymitis, Knee osteoarthritis, Pneumon... ORPHA:1304
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Feeding difficulties, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Myelodysplasia, Decreased circ... OMIM:619767
Cinca Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Abnormal granulocyte morphology, Abnormality of... ORPHA:1451
Harderoporphyria
Hepatomegaly, Splenomegaly, Vomiting, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis OMIM:618892
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Helicobacter pylori infection, Recurrent aphthous stomatitis, Increased... ORPHA:2688
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Gaucher Disease, Type Iii
Decreased body weight, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hepatomegaly OMIM:615924
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Hyper-Igd Syndrome
Chronic oral candidiasis, Neutrophilia, Abdominal pain, Skin rash, Splenomegaly, Leukocytosis, Ly... OMIM:260920
Glycogen Storage Disease Ib
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Gout, In... OMIM:232220
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting OMIM:616809
Acquired Hypertrichosis Lanuginosa
Neoplasm, Ovarian neoplasm, Macroglossia, Neoplasm of the respiratory system, Neoplasm of the bre... ORPHA:2221
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Gastric varix, Bronchiectasis OMIM:613490
Systemic Capillary Leak Syndrome
Multiple myeloma, Pancreatitis, Abdominal pain, Leukocytosis, Diarrhea, Myocarditis, Weight loss,... ORPHA:188
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Abdominal pain, Splenomegaly, Leukocytosis, Anisocytosis, Heinz bodies, Poikilocytosis, Fava bean... OMIM:300908
Congenital Disorder Of Glycosylation, Type Iij
Failure to thrive, Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding diffi... OMIM:613489
Macrophage Activation Syndrome
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rhe... ORPHA:158061
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Diarrhea, Hemolytic anemia, Nausea and vomiting, Lymphadenopathy ORPHA:56425
Pneumocystosis
Increased circulating antibody level, Neoplasm, Chronic oral candidiasis, Interstitial pneumoniti... ORPHA:723
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia OMIM:613313
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Hepatocellular carcinoma, Int... OMIM:601847
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Selective Igm Deficiency
Keratitis, Multiple myeloma, Recurrent infection of the gastrointestinal tract, Stomach cancer, O... ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Osteomyelitis, Eczematoid dermatitis, He... OMIM:233710
Cystic Echinococcosis
Abdominal symptom, Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly,... ORPHA:400
Gaucher Disease Type 2
Dysphagia, Hepatomegaly, Splenomegaly ORPHA:77260
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Cryptogenic Organizing Pneumonia
Anorexia, Weight loss, Neutrophilia, Leukocytosis ORPHA:1302
Congenital Factor Xiii Deficiency
Myeloid leukemia, Inflammation of the large intestine, Hepatic failure ORPHA:331
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Steatorrhea, Splenomegaly, Hepatic failure, Cirrhosis, Diarrhea,... OMIM:613812
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Hepatic fibrosis, Portal hyp... OMIM:616278
Tuberculosis
Weight loss ORPHA:3389
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Thrombocytopenia, Pancytopenia, Bone marrow hypocellulari... OMIM:227645
Castleman Disease
Decreased mean corpuscular volume, Abdominal distention, Abdominal pain, Anemia, Follicular hyper... ORPHA:160
Neuroendocrine Tumor Of Stomach