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Gene: Rigi MGI:2442858

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

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
impaired glucose tolerance	Rigi^em1(IMPC)Mbp	HOM	Early adult	2.71×10^-06
small liver	Rigi^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Rigi^em1(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 Dorso Ventral

70 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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Eye Morphology

Images Slit Lamp

2 Images

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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.

Human diseases associated with Rigi (1 diseases)
Human diseases predicted to be associated with Rigi (958 diseases)

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	Matching phenotypes	Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu...	OMIM:615285
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocy...	OMIM:619164
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea	OMIM:619398
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Chronic diarrhea, Enlarged tonsil...	OMIM:616005
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, Abdomina...	ORPHA:98849
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph...	OMIM:608971
Immunodeficiency 18	Defective T cell proliferation, Recurrent gastroenteritis, Recurrent otitis media, Decreased prop...	OMIM:615615
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan...	OMIM:617006
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt...	OMIM:614470
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne...	OMIM:619281
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S...	OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Anemia, Lymphadenopathy, Decreased circulating antibody level, ...	OMIM:613101
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, B-cell lymphoma, Anorexia, Splenomegaly, Lymphadenopat...	ORPHA:52416
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM...	OMIM:153600
Immunodeficiency 70	Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ...	OMIM:618969
Immunodeficiency, Common Variable, 11	Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas...	OMIM:615767
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu...	OMIM:618394
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci...	OMIM:618108
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto...	OMIM:616871
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ...	ORPHA:71493
Immunodeficiency 19	Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ...	OMIM:615617
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Immunodeficiency 24	Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decreased...	OMIM:615897
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen...	ORPHA:911
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
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
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Reduced natural killer cell activity...	OMIM:616050
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art...	OMIM:604416
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Immunodeficiency 48	Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrh...	OMIM:269840
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina...	ORPHA:277
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Portal hypertension, Hematolo...	ORPHA:824
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Aggressive Systemic Mastocytosis	Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis...	ORPHA:98850
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Br...	OMIM:617638
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la...	OMIM:614700
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder	OMIM:131440
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Hepat...	OMIM:209950
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Chronic Myeloid Leukemia	Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di...	ORPHA:521
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul...	ORPHA:100024
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt...	OMIM:601457
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Decreased circulating antibody le...	ORPHA:33355
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute l...	ORPHA:3226
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun...	ORPHA:98813
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea...	ORPHA:98827
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l...	OMIM:618806
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Lymphadeni...	OMIM:618935
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos...	ORPHA:66661
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis...	OMIM:618963
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer	OMIM:619096
Caspase 8 Deficiency	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:607271
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Anorexia, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopath...	ORPHA:86893
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 40	Hepatomegaly, Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T ly...	OMIM:616433
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc...	OMIM:615190
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:618204
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ...	OMIM:243150
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Abdominal pain, Eo...	ORPHA:486
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic d...	OMIM:619510
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Failur...	OMIM:605724
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De...	ORPHA:169154
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma	OMIM:247640
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae	OMIM:614038
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer	OMIM:246470
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden...	ORPHA:397596
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit...	ORPHA:2686
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co...	OMIM:301074
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ...	OMIM:209920
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro...	ORPHA:91139
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymph...	ORPHA:3261
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Hepatic Adenomas, Familial	Hepatocellular adenoma, Maturity-onset diabetes of the young	OMIM:142330
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron...	OMIM:212050
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bro...	OMIM:242700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Recurr...	OMIM:620282
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B...	OMIM:607594
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia	OMIM:614743
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Abdominal pain, Malabsor...	ORPHA:100025
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure ...	OMIM:619151
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas...	OMIM:614878
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Galactose Epimerase Deficiency	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss	ORPHA:79238
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia	OMIM:300988
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocy...	ORPHA:514
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,...	OMIM:618495
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Lymphoma, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-...	OMIM:619126
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura...	OMIM:600802
Pseudomyxoma Peritonei	Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Lymp...	ORPHA:26790
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Monocytope...	OMIM:618986
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:42642
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent...	OMIM:150550
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Test...	ORPHA:83469
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg...	ORPHA:507
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neoplasm of head and neck, ...	ORPHA:99867
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Gastroesophageal refl...	OMIM:614742
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Vomi...	ORPHA:37042
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi...	OMIM:616100
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi...	OMIM:617241
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom...	OMIM:619381
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Thrombocy...	ORPHA:540
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r...	OMIM:301082
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous...	ORPHA:822
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Abdominal pain, Malab...	ORPHA:2070
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c...	OMIM:613501
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia	OMIM:252270
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh...	OMIM:615607
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi...	OMIM:308240
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant...	ORPHA:48104
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Wolman Disease	Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Abdominal distention, Spleno...	ORPHA:75233
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M...	ORPHA:79456
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Esophagitis, Eosinophilic, 2	Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:610247
Ficolin 3 Deficiency	Necrotizing enterocolitis, Verrucae	OMIM:613860
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility...	ORPHA:67
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E...	OMIM:602450
Indolent Systemic Mastocytosis	Hepatomegaly, Skin rash, Maculopapular exanthema, Hematological neoplasm, Splenomegaly, Lymphaden...	ORPHA:98848
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Abnormal large int...	ORPHA:2198
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop...	OMIM:259710
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Increa...	ORPHA:37748
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Abnormality of the pancreas, Diarrhea...	ORPHA:54251
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke...	ORPHA:90280
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Burkitt Lymphoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Villous atrophy, Psoriasiform dermatitis, Decreased proportion of CD4+CD25+ reg...	OMIM:606367
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Bloody ...	OMIM:617718
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Abdominal pain	OMIM:118830
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Recurren...	OMIM:615122
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Poor appetite, Anorexia, Splenomegaly, Lymphoma, Lymphadenopathy, Weight...	ORPHA:391
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pn...	ORPHA:47612
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Gastroeso...	ORPHA:443811
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Neutropenia...	OMIM:615387
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat...	ORPHA:79140
Shigellosis	Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi...	ORPHA:810
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Refractory Celiac Disease	Normocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Macrocytic anemia, Abdo...	ORPHA:398063
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit...	OMIM:611762
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm...	ORPHA:229717
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent...	OMIM:240500
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Failure to thrive, Jaundice, Ch...	ORPHA:79303
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa...	ORPHA:545
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity, Cardiomegaly	ORPHA:88643
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,...	ORPHA:77297
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ...	OMIM:603909
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
X-Linked Agammaglobulinemia	Sinusitis, Glossoptosis, Neoplasm, Conjunctivitis, Neutropenia, Chronic otitis media, Recurrent c...	ORPHA:47
Rhabdoid Tumor	Nausea and vomiting, Renal neoplasm, Poor appetite, Abdominal pain, Thrombocytopenia, Lymphadenop...	ORPHA:69077
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Primary Erythromelalgia	Leukemia	ORPHA:90026
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin...	ORPHA:331206
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Anorexia, Eosinophilia, Dia...	ORPHA:169160
Neurofibromatosis Type 1	Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio...	ORPHA:636
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro...	OMIM:619858
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath...	OMIM:301078
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Ataxia-Telangiectasia	Decreased circulating IgG level, Failure to thrive, Sinusitis, Decreased circulating IgG2 level, ...	OMIM:208900
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Vomiting, Hepatic fibrosis, Failure to thrive, Hepatic steatosis	OMIM:614480
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop...	OMIM:618852
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair...	OMIM:601399
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive	ORPHA:172
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Abdominal pain, Lymphadenitis, Leukocytosis, Chronic diarrhea, Splenomegaly...	OMIM:615895
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Abdo...	ORPHA:2137
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diar...	ORPHA:90051
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopat...	ORPHA:2584
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Vomiting, Failure to thrive	OMIM:230350
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Anorexia, Oral-pharyngeal dysphagi...	ORPHA:100083
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Isolated Congenital Hypoglossia/Aglossia	Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ...	ORPHA:141152
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Peritoneal eff...	ORPHA:90362
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo...	ORPHA:251380
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio...	OMIM:618459
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent skin infections, Splenomegaly, Cleft pal...	OMIM:620210
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectas...	OMIM:242860
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho...	OMIM:619313
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ...	OMIM:614699
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a...	ORPHA:79301
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Idiopathic Achalasia	Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia	ORPHA:930
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I...	ORPHA:324964
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa...	ORPHA:2494
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, Pa...	ORPHA:811
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Lymphoprolifer...	ORPHA:33276
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Portal ...	ORPHA:131
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Adenomatous colonic...	OMIM:276300
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Malabsorption, Leukocytosis, Lymphoma, Acute leukemia, Lymphadenopathy	ORPHA:99812
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Chronic diarrhea, Esophageal ...	OMIM:614576
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Weight loss, Lymphocytic interstitial pneumonia, Abnormal proportion...	ORPHA:133
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Bloom Syndrome	Poor appetite, Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Otitis media, ...	ORPHA:125
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectious encephaliti...	ORPHA:391487
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh...	ORPHA:2930
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia	OMIM:615010
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hep...	OMIM:614602
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Diarrhea, Thromboc...	OMIM:603554
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu...	ORPHA:3260
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Thrombocytopenia, Splenomegaly, Feed...	ORPHA:79312
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Anorexia, Malabsorption, Abnormalit...	ORPHA:33226
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Decreased ...	OMIM:243700
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Familial Pancreatic Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Functional intestinal obstruction, Intestinal pse...	ORPHA:1333
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis	OMIM:271500
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat...	OMIM:612692
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic...	ORPHA:35858
Omenn Syndrome	Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic dia...	ORPHA:39041
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Nephroblastoma, Meningioma	OMIM:602501
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm...	ORPHA:729
Syndromic Diarrhea	Lymphopenia, Villous atrophy, Hepatomegaly, Gastritis, Hepatoblastoma, Increased mean platelet vo...	ORPHA:84064
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the th...	ORPHA:83471
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Bronchiectasis, Weight loss	ORPHA:1164
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly, Feeding difficulties	OMIM:611721
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Thrombocytopenia	ORPHA:721
Sandhoff Disease	Splenomegaly, Failure to thrive, Hepatomegaly	ORPHA:796
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Hepatomegaly, B-cell lymphoma, Autoimmune thrombocytopenia, ...	OMIM:102700
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lym...	ORPHA:139402
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Acute leukemia, Abnormal stomach morphology	ORPHA:281090
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Soft tissue sarcoma, Anorexia, Weight loss	ORPHA:2023
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L...	ORPHA:3162
Immunodeficiency 54	Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Red...	OMIM:609981
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Wilson Disease	Acute hepatic failure, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Increas...	ORPHA:905
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Turcot Syndrome With Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti...	ORPHA:99818
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Aicardi-Goutières Syndrome	Enchondroma, Myositis, Chilblains, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosple...	ORPHA:51
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Nasu-Hakola Disease	Functional abnormality of the gastrointestinal tract, Acute leukemia	ORPHA:2770
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea,...	ORPHA:90038
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Pure red cell aplasia, Auto...	OMIM:613179
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Villous atrophy, Osteomy...	OMIM:614162
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr...	ORPHA:263665
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa...	OMIM:606069
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Myelodysplasia, Th...	OMIM:260400
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ...	OMIM:619975
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, Thrombocytopenia, Splenomegaly, ...	OMIM:617591
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas...	OMIM:613662
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm	ORPHA:46488
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Porphyria Due To Ala Dehydratase Deficiency	Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal di...	ORPHA:100924
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Gastroint...	ORPHA:1572
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, High palate,...	OMIM:269920
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi...	ORPHA:449400
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal...	ORPHA:298
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Vomiting, Hepatic fibrosis, Hepatic st...	OMIM:278000
Immunodeficiency 22	Decreased circulating IgG level, Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diar...	OMIM:615758
Hirschsprung Disease	Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure...	ORPHA:388
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly	OMIM:617068
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell...	OMIM:618398
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties ...	OMIM:257200
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In...	ORPHA:93941
Acute Promyelocytic Leukemia	Pancytopenia, Anorexia, Abdominal pain, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight l...	ORPHA:520
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Pyloric stenosis, Splenomegaly, Jaundice, Hepatitis, Ly...	ORPHA:381
Babesiosis	Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Leukopenia...	ORPHA:108
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Myelodysplasia, Acute lymphobla...	OMIM:606593
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Griscelli Syndrome Type 2	Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha...	ORPHA:79477
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo...	ORPHA:2902
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy...	ORPHA:53035
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Secretory diarrhea, Hepatic steatosis, Decreased proportion ...	OMIM:619573
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased fecal harderoporphyrin, ...	OMIM:618892
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla...	ORPHA:33577
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive	OMIM:619868
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Failure to thrive	OMIM:228000
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Increased circulating IgM ...	ORPHA:2688
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Abdominal pain,...	ORPHA:829
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ...	OMIM:619767
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype...	ORPHA:64743
Storage Pool Platelet Disease	Myelodysplasia, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Cirrhosis,...	ORPHA:75234
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell...	OMIM:615966
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Abdominal pain, Increased circulating IgA ...	OMIM:617099
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Neo...	ORPHA:723
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun...	ORPHA:309031
Brucellosis	Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Increased cir...	ORPHA:1304
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic ...	OMIM:214900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Familial Isolated Dilated Cardiomyopathy	Abnormality of neutrophils	ORPHA:154
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Weight loss, Multiple myeloma,...	ORPHA:188
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feeding difficulties, Thrombocytopenia	OMIM:610333
Cinca Syndrome	Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Retrobulbar optic neuritis, Leukoc...	ORPHA:1451
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Malabsorption, Pylori...	ORPHA:379
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Lymphadenitis, Diarrhea...	OMIM:260920
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Lymphadenopathy, Ovarian neoplasm, Macroglossia, Weight loss, Ne...	ORPHA:2221
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout, Inflammation of the large int...	OMIM:232220
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Cirrhosis, Gastric varix	OMIM:613490
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal natural k...	ORPHA:158061
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Eczema, Pancreatic stea...	OMIM:617052
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne...	OMIM:300908
Selective Igm Deficiency	Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec...	ORPHA:331235
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis,...	OMIM:601847
Cystic Echinococcosis	Abdominal symptom, Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abs...	ORPHA:400
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Anorexia, Weight loss	ORPHA:1302
Castleman Disease	Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Generaliz...	ORPHA:160
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Cold Agglutinin Disease	Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy	ORPHA:56425
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Malt Lymphoma	Nausea and vomiting, B-cell lymphoma, Abdominal pain, Mediastinal lymphadenopathy, Lymphadenopath...	ORPHA:52417
Tuberculosis	Weight loss	ORPHA:3389
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ...	OMIM:227645
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure, Myeloid leukemia	ORPHA:331
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Hepatomegaly, Chronic noninfectious lymphadenopathy, Poor appetite, Anorexia...	ORPHA:100075
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph...	OMIM:619463
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cirrhosis,...	OMIM:613489
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Dyspepsia, Gastrointestinal hemorrhage, Intestinal obs...	ORPHA:85450
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Stea...	OMIM:235555
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ...	OMIM:224120
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Lympho...	OMIM:212750
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra...	ORPHA:411696
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Agammaglobulinemia 1, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia, Decreased circulating antibod...	OMIM:601495
Amyloidosis, Familial Visceral	Splenomegaly, Skin rash, Cholestasis, Hepatomegaly	OMIM:105200
Cholestasis-Lymphedema Syndrome	Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pa...	ORPHA:1414
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,...	OMIM:175500
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Neuroblastoma, Susceptibility To, 1	Abdominal mass, Ganglioneuroblastoma, Abdominal pain, Diarrhea, Weight loss, Neuroblastoma, Failu...	OMIM:256700
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Bloom Syndrome	Decreased circulating IgG level, Small for gestational age, Elevated hemoglobin A1c, Lymphoma, Br...	OMIM:210900
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Anorexia, Abdominal d...	ORPHA:370348
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia	ORPHA:50251
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Intrahepatic chole...	OMIM:607765
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Failure to thrive, Chronic neutropenia, Diarrhea, Hepatocellular adenoma, Enterocol...	ORPHA:79259
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Anorex...	OMIM:181000
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Hepatomegaly, Diarrhea, Weight loss, Failure to thrive, Anemia	ORPHA:1842
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Esophageal atresia, Thrombocytopenia, Annular pancreas, ...	OMIM:227646
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile duct morph...	ORPHA:562639
Nijmegen Breakage Syndrome	Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyos...	ORPHA:647
Glycogen Storage Disease Ixb	Splenomegaly, Diarrhea, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Skin rash, Aplastic anemia, Maculopapular exanthema...	ORPHA:398124
Rothmund-Thomson Syndrome	Skin rash, Aplastic anemia, Myelodysplasia, Small for gestational age, Nasogastric tube feeding i...	ORPHA:2909
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Icf Syndrome	Abnormality of neutrophils, Malabsorption, Protruding tongue, Decreased circulating antibody leve...	ORPHA:2268
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Perio...	ORPHA:79242
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly...	ORPHA:31205
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Takayasu Arteritis	Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ...	ORPHA:3287
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Prolidase Deficiency	Hepatomegaly, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous ...	OMIM:170100
Graft Versus Host Disease	Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu...	ORPHA:39812
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia...	OMIM:619708
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Vomiting, I...	ORPHA:2552
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic...	OMIM:603903
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive	OMIM:612075
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis, Hepatic failure	ORPHA:664
Q Fever	Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocardi...	ORPHA:781
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Small for gestational age, Myelodysplasia, Diarrhea, Lymphoma, Functional abnorm...	ORPHA:221016
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Diarrhea, Jaundice, ...	OMIM:211600
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Small for gestational age, Myelodysplasia, Diarrhea, Functional abnormality of t...	ORPHA:221008
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly	OMIM:620296
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Diarrhea, Lymphadenopathy, Abnormal liver parenchyma morphology,...	ORPHA:1332
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, ...	ORPHA:544482
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi...	OMIM:619377
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Anorexia, Abdominal pain, Mala...	ORPHA:3452
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Vomiting, Hepat...	ORPHA:275761
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell activity, Thrombocytopenia, Sp...	OMIM:603553
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Perit...	OMIM:249100
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Alveolar Echinococcosis	Liver abscess, Cholangitis, Eosinophilia, Abdominal pain, Portal hypertension, Hepatic cysts, Abn...	ORPHA:284
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Portal i...	OMIM:602347
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Feeding difficulties	OMIM:613224
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Failure to thrive in infancy, Fluctu...	OMIM:610377
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Roifman Syndrome	Hepatomegaly, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent...	OMIM:616651
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel...	ORPHA:2908
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Feeding difficulties in infancy, Splenomegaly, Macrocytic anemia, Failure to thrive	OMIM:619046
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Failure to thrive in infancy, Pust...	OMIM:612852
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Nephroblastoma	Abdominal pain, Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Weight loss, Neopla...	ORPHA:654
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Neoplasm, Ascites	ORPHA:168811
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Familial Colorectal Cancer Type X	Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain...	ORPHA:440437
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Myel...	ORPHA:124
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Diarrh...	OMIM:619849
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Abn...	OMIM:214500
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno...	ORPHA:85414
Somatostatinoma	Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten...	ORPHA:97283
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,...	OMIM:608233
Down Syndrome	Aganglionic megacolon, Protruding tongue, Abnormality of the lymphatic system, Obesity, Narrow pa...	ORPHA:870
Tarp Syndrome	Failure to thrive, Extramedullary hematopoiesis, Cleft palate, Glossoptosis, Abnormal duodenum mo...	ORPHA:2886
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Skin rash, ...	ORPHA:50918
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepa...	OMIM:606003
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Legionnaires Disease	Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Splenomegaly,...	ORPHA:549
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdominal pain, Leukocytosi...	OMIM:615688
Chronic Hiccup	Malnutrition, Weight loss	ORPHA:396
Hemochromatosis, Type 2A	Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly	OMIM:602390
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Weight loss, Acholic s...	ORPHA:65682
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Thrombocytopenia, Osteoarthr...	ORPHA:77259
Anaplastic Thyroid Carcinoma	Neoplasm of the skeletal system, Tracheoesophageal fistula, Lymphadenopathy, Neoplasm of the lung...	ORPHA:142
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Myelodysplasia, Feeding difficulties	OMIM:619951
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Glucagonoma	Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Episodic abdominal p...	ORPHA:97280
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Hepatic bridging fibrosis, Splenomegaly, Diarrhea, Intrahepatic ...	OMIM:613812
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma...	ORPHA:552
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Abdominal pain, Anorexia, Lac...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Abdominal pain, Anorexia, Lac...	ORPHA:100082
Nijmegen Breakage Syndrome	Anal stenosis, Sinusitis, Autoimmune hemolytic anemia, Glioma, Rhabdomyosarcoma, Dysgammaglobulin...	OMIM:251260
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra...	ORPHA:29073
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction...	ORPHA:183
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He...	ORPHA:85408
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Diarrhea, Lymphad...	OMIM:617827
American Trypanosomiasis	Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa...	ORPHA:3386
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Hurler-Scheie Syndrome	Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Lynch Syndrome	Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum, Basal ce...	ORPHA:144
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa...	ORPHA:809
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma	ORPHA:2760
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarr...	OMIM:300972
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatic steatosis, Necrotizing enterocolitis, Hepatomegaly, Cardiomegaly, Hepatocellular necrosis...	OMIM:201475
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Abdominal pain, Anorexia, Lac...	ORPHA:100080
Tatton-Brown-Rahman Syndrome	Myeloid leukemia, Neuroendocrine neoplasm, Obesity	ORPHA:404443
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic...	ORPHA:100078
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Uveitis, Arthritis, Conjunct...	ORPHA:575
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail...	OMIM:267700
Loeffler Endocarditis	Left ventricular hypertrophy, Pericarditis, Eosinophilia, Weight loss	ORPHA:75566
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an...	OMIM:615846
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,...	ORPHA:288
Mosaic Variegated Aneuploidy Syndrome 1	Small for gestational age, Nephroblastoma, Feeding difficulties in infancy, Embryonal rhabdomyosa...	OMIM:257300
Retinoblastoma	Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Con...	ORPHA:99745
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis	OMIM:301220
Attrv30M Amyloidosis	Diarrhea, Weight loss, Constipation, Cardiomegaly	ORPHA:85447
Sitosterolemia 1	Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stom...	OMIM:210250
Plague	Glossitis, Chapped lip, Hepatomegaly, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymp...	ORPHA:707
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Intrahepatic cholestasis, Cutaneous leiomyoma, High...	OMIM:606812
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Vipoma	Poor appetite, Anorexia, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ...	ORPHA:97282
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the lar...	OMIM:232240
Juvenile Xanthogranuloma	Iritis, Blepharitis, Myeloproliferative disorder, Uveitis	ORPHA:158000
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Neoplasm, Constipation	ORPHA:168816
Late-Onset Isolated Acth Deficiency	Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Eosinophilia, Anorexia, Abdominal pain...	ORPHA:199299
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Thro...	OMIM:305000
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatomegaly, Chilblains, Portal hypertension...	OMIM:619487
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Vici Syndrome	Decreased circulating IgG level, Failure to thrive, Left ventricular hypertrophy, Decreased circu...	OMIM:242840
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Pneumonia, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, ...	ORPHA:1546
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly...	OMIM:257220
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S...	ORPHA:32960
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Hepatic steatosis, Small for gestational age, Microcytic anemia, T lymp...	ORPHA:2959
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop...	OMIM:612541
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, Chronic otiti...	ORPHA:169090
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA lev...	ORPHA:2298
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Aredyld Syndrome	Splenomegaly, Refractory anemia with ringed sideroblasts, Cachexia, Hepatomegaly	ORPHA:1133
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Cleft palate, Uveitis, Leiomyosarcoma, Melanom...	ORPHA:790
Pemphigus Vulgaris	Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Toxic Epidermal Necrolysis	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Intestin...	ORPHA:537
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Gastroesophageal reflux, Hepatomegaly	ORPHA:2414
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Beta-Ketothiolase Deficiency	Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Weight loss, Vomiting, Thrombocytosis	ORPHA:134
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, T lymphocytopenia, Recurren...	OMIM:607944
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Subcutaneous lipoma, Cachexia, Abdominal pain, Hi...	ORPHA:79076
Erythrokeratodermia Variabilis	Skin rash, Neoplasm of the skin, Weight loss	ORPHA:317
Stevens-Johnson Syndrome	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abnormality of neutrophi...	ORPHA:36426
Joubert Syndrome 33	Splenomegaly	OMIM:617767
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Leukocytosis, ...	ORPHA:20
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Achalasia, Tracheobronchial leiomyomatos...	ORPHA:1018
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Abdominal distention, Abnormal liver sonography, Increased hepatitis B virus anti...	ORPHA:90003
Dubowitz Syndrome	Aplastic anemia, Eczema, Feeding difficulties in infancy, Velopharyngeal insufficiency, Chronic d...	OMIM:223370
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive	ORPHA:178029
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ...	ORPHA:793
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Abdominal pain, Cardiomegaly, Splenomegaly...	ORPHA:465508
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Abdominal pain, Splenomegaly, Mediast...	ORPHA:91138
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex...	ORPHA:100086
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Feeding difficulti...	OMIM:613385
Poems Syndrome	Lymphoproliferative disorder, Lymphadenopathy, Weight loss, Increased circulating antibody level,...	ORPHA:2905
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Gastropares...	ORPHA:85443
Gaucher Disease, Type Ii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Feeding difficulties, Gastroesophageal reflux, Prot...	OMIM:230900
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia	OMIM:230800
Dubowitz Syndrome	Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Rectal prolap...	ORPHA:235
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Failure to thrive	OMIM:230600
Adams-Oliver Syndrome 6	Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension	OMIM:616589
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma...	ORPHA:97289
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm, Genital neop...	ORPHA:2126
Grfoma	Poor appetite, Anorexia, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome...	ORPHA:97261
Diencephalic Syndrome	Neoplasm of the nervous system, Cachexia, Decreased body weight	ORPHA:1672
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Diarrhe...	ORPHA:36412
Ppoma	Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten...	ORPHA:97278
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Inte...	OMIM:603041
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Lysinuric Protein Intolerance	Hepatomegaly, Protein avoidance, Pancreatitis, Diarrhea, Malnutrition, Thrombocytopenia, Splenome...	OMIM:222700
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Weight loss, Bronchiectasis, Lymphadenopathy	ORPHA:411703
Scrub Typhus	Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Myocarditis, Splenomegaly, Lymp...	ORPHA:83317
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Failure to thrive, Portal hypertension, Feeding difficulties in infancy, Splenomega...	OMIM:251880
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Cleft palate, Narrow palate, T lymphocytopenia, Abnormal B cell morphology...	OMIM:618223
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Splenomegaly, Hepatosplenomegaly, Failure to thrive, Poor suck	OMIM:613563
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Lymphadenop...	ORPHA:99978
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Poikiloderma With Neutropenia	Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne...	OMIM:604173
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Macroglossia, Leukopenia, Incr...	OMIM:617303
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Zollinger-Ellison Syndrome	Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro...	ORPHA:913
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Esophageal varix, Hepato...	ORPHA:264580
Congenital Enterocyte Heparan Sulfate Deficiency	Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Isaacs Syndrome	Weight loss	ORPHA:84142
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Pediatric-Onset Graves Disease	Nausea and vomiting, Episcleritis, Hepatomegaly, Keratitis, Splenomegaly, Diarrhea, Jaundice, Neu...	ORPHA:525731
Liposarcoma	Nausea and vomiting, Sarcoma, Weight loss, Abdominal pain	ORPHA:69078
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Cleft palate, Acute lym...	ORPHA:1052
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Obesity, Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder	ORPHA:70591
Gm1 Gangliosidosis	Splenomegaly, Feeding difficulties, Hepatosplenomegaly, Macroglossia, Weight loss, Gastroesophage...	ORPHA:354
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Failure to thrive	OMIM:201100
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic...	OMIM:608710
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom...	OMIM:617321
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Diarrhea, Cardiomegaly	OMIM:252920
Diamond-Blackfan Anemia 7	Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Esophagitis, Neutropenia, Rec...	OMIM:612562
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Prolonged neonatal j...	OMIM:607625
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice...	OMIM:615512
Reactive Arthritis	Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti...	ORPHA:29207
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma, Poor appetite, Erythroderma	ORPHA:312
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis...	ORPHA:30391
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Recurrent ...	ORPHA:171876
Igg4-Related Kidney Disease	Lymphadenitis, Lymphocytoma cutis, Tubulointerstitial nephritis, Increased circulating IgG level,...	ORPHA:449395
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Recu...	ORPHA:508533
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity	ORPHA:66628
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Gaisböck Syndrome	Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obes...	ORPHA:90041
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Constipation, Failure to thrive, Anemia	OMIM:239200
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity	ORPHA:179494
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Bowel urgency, Poor appetite, Anorexia, Chronic noninfectious lymphadeno...	ORPHA:97287
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro...	ORPHA:167
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Cavernous hemangioma, Righ...	OMIM:616028
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Abdominal pain, Bi...	ORPHA:567983
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Seborrheic dermatit...	ORPHA:2796
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia, Feeding difficulties	OMIM:617050
Behçet Disease	Myositis, Anorexia, Infectious encephalitis, Acne, Abdominal pain, Retrobulbar optic neuritis, Ly...	ORPHA:117
Christianson Syndrome	Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Anorexia, Malabsorption, Abdominal pain, Weight loss, Basal cell car...	ORPHA:79430
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Anorexia, Abdominal pain, Breast carcino...	ORPHA:732
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Noonan Syndrome 2	Leukemia, High palate	OMIM:605275
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Abdo...	ORPHA:342
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati...	OMIM:619418
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Hypercalcemia, Infantile, 1	Failure to thrive, Vomiting, Weight loss	OMIM:143880
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons...	OMIM:611881
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Macroglossia, Chronic otitis media, Failure to thrive	ORPHA:583
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Pyloric stenosis, Splenomegaly, Ileus, Recurrent pneumonia, Feeding difficulties, C...	OMIM:613327
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Abnormal lymph node morphology, Weight ...	ORPHA:677
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Weight loss, Episodic abdominal pain, Paraganglioma, Nausea	ORPHA:94080
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibros...	OMIM:618641
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Splenomegaly, Diarrhea, Hepatocellular adenoma, Increased body weight, Vomiting, He...	ORPHA:79240
Tyrosinemia, Type I	Acute hepatic failure, Gastrointestinal hemorrhage, Hepatomegaly, Failure to thrive, Splenomegaly...	OMIM:276700
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of neutrophils, Malabsor...	ORPHA:1775
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cachexia, Cardiomegaly, Diarrhea, Vomiting, Decreased liver function, Hepatic steat...	ORPHA:42
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirr...	OMIM:613471
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Weight loss, Kerato...	ORPHA:79128
Moynahan Syndrome	Cachexia	ORPHA:2574
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Episodic abdominal pain, Hepatosplenomegaly, Vomiting, Pancreatitis	OMIM:238600
Down Syndrome	Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Acute megakaryocytic leukemia, Macro...	OMIM:190685
Rubinstein-Taybi Syndrome 1	Accessory spleen, Small for gestational age, Feeding difficulties in infancy, High, narrow palate...	OMIM:180849
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor...	ORPHA:2538
Huntington Disease	Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia	ORPHA:399
Isolated Succinate-Coq Reductase Deficiency	Feeding difficulties in infancy, Left ventricular hypertrophy, Weight loss	ORPHA:3208
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Aganglionic megacolon, Nephroblastoma, Failure to thrive in infancy, Rec...	ORPHA:798
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Anorexia, Pancreatoblastoma, Ne...	ORPHA:99889
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Intestinal malrotation	ORPHA:3035
Wild Type Attr Amyloidosis	Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, In...	ORPHA:330001
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Cholestasis, Hepatosplenomegaly, Feeding difficulties, Hepatic fibrosis, Esophagitis, Hepatic fai...	ORPHA:541423
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Renal Nutcracker Syndrome	Weight loss, Nausea, Anemia, Abdominal pain	ORPHA:71273
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Biotinidase Deficiency	Hepatomegaly, Recurrent skin infections, Skin rash, Seborrheic dermatitis, Feeding difficulties i...	OMIM:253260
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties	OMIM:616801
Granulomatosis With Polyangiitis	Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Intestinal obstruction...	ORPHA:900
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Acrodermatitis Enteropathica	Glossitis, Poor appetite, Anorexia, Pustule, Malabsorption, Chronic diarrhea, Cheilitis, Furrowed...	ORPHA:37
Scheie Syndrome	Splenomegaly, Rhinitis, Hepatomegaly	ORPHA:93474
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Failure to thrive, Small for gestational age, Increased mean plate...	OMIM:222470
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Anorexia, Keratitis, Lympha...	ORPHA:31204
Renpenning Syndrome	High, narrow palate, Cachexia, Anal atresia, Cleft palate	ORPHA:3242
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Weight loss, Chronic...	ORPHA:103918
Cocaine Intoxication	Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n...	ORPHA:90068
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa...	ORPHA:35710
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Panniculitis, Erysipelas, Lymphoma	ORPHA:2526
Addison Disease	Nausea and vomiting, Normocytic anemia, Anorexia, Abdominal pain, Celiac disease, Thiamine-respon...	ORPHA:85138
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight los...	ORPHA:420741
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Normocytic anemia, Psoriasiform dermatitis, Deep dermal perivascular inflamm...	ORPHA:49041
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Weight loss, Abdominal pain	ORPHA:767
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp...	ORPHA:97685
Sarcoidosis	Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopenia, Hemolytic anemia, Hepa...	ORPHA:797
Ellis Van Creveld Syndrome	Failure to thrive, Acute leukemia	ORPHA:289
Malignant Atrophic Papulosis	Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ...	ORPHA:679
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil...	OMIM:301068
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom...	ORPHA:652
Idiopathic Bronchiectasis	Acute infectious pneumonia, Bronchiectasis, Cachexia	ORPHA:60033
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failu...	ORPHA:79351
Hennekam Syndrome	Benign neoplasm of the central nervous system, Malabsorption, Splenomegaly, Pyloric stenosis, Pul...	ORPHA:2136
Pearson Syndrome	Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Chronic ...	ORPHA:699
Graves Disease, Susceptibility To, 1	Abnormal abdomen morphology, Weight loss	OMIM:275000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix,...	OMIM:263200
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Schwannoma, Feeding difficulties, Weight lo...	ORPHA:221098
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Dysphagia	ORPHA:216866
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Mcdonough Syndrome	Cachexia	ORPHA:2471
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Feeding difficulties in infancy, Myocarditis, Gastr...	ORPHA:221
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Neoplasm of the adrenal cortex, Abnormal large intestine morphology, Cachex...	ORPHA:109
Erdheim-Chester Disease	Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Retroperitoneal fibrosis, Weight l...	ORPHA:35687
Crimean-Congo Hemorrhagic Fever	Anorexia, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbillifor...	ORPHA:99827
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphology, Hepatic steatosis	ORPHA:98907
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Pancrea...	ORPHA:565612
Giant Cell Arteritis	Pericarditis, Anorexia, Abdominal pain, Mediastinal lymphadenopathy, Weight loss, Arthritis, Gast...	ORPHA:397
Acute Adrenal Insufficiency	Nausea and vomiting, Normocytic anemia, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipa...	ORPHA:95409
Camurati-Engelmann Disease	Hepatomegaly, Anorexia, Cachexia, Feeding difficulties in infancy, Splenomegaly, Leukopenia, Slen...	ORPHA:1328
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Parathyroid Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Renal hamartoma, Testicular neoplas...	ORPHA:143
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Peptic ulcer, Diarrhea, Insulinoma, Pituitary adenoma, Parathyroid...	OMIM:131100
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Anal atresia	ORPHA:884
Familial Tumoral Calcinosis	Splenomegaly, Skin rash, Neoplasm of the skin, Hepatomegaly	ORPHA:53715
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lympha...	OMIM:602782
Chime Syndrome	Cleft palate, Acute leukemia	ORPHA:3474
Multiple Endocrine Neoplasia Type 4	Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndrome, Pituitary prolac...	ORPHA:276152
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var...	ORPHA:2072
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Cachexia, High palate, Narrow palate	OMIM:618186
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, High palate	OMIM:609942
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure...	ORPHA:371364
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased s...	ORPHA:79277
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Episodic...	ORPHA:276621
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Acute lymphoblastic leukemia, Hepatomegaly, Cleft palate, Large for gestational age	OMIM:280000
Perry Syndrome	Weight loss	ORPHA:178509
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly, Chronic diarrhea, Failure to thrive, Recurrent infection of the gastr...	OMIM:612132
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Mucolipidosis Type Ii	Splenomegaly, Hepatosplenomegaly, Weight loss, Protuberant abdomen, Otitis media, Left ventricula...	ORPHA:576
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ileus, Constipation, Cachexia	ORPHA:52503
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,...	OMIM:163950
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric...	ORPHA:99921
Fatal Familial Insomnia	Weight loss, Constipation, Dysphagia	OMIM:600072
Familial Glucocorticoid Deficiency	Anorexia, Diarrhea, Testicular adrenal rest tumor, Episodic abdominal pain, Weight loss, Constipa...	ORPHA:361
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Myelodysplasia, Aplasia/Hypopl...	ORPHA:84
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal...	ORPHA:29072
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol...	OMIM:610199
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon	ORPHA:163746
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Cardiomegaly, Increased circulating IgG level, Conjunctivitis, Hepatomegaly, E...	OMIM:256040
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pai...	ORPHA:91500
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Conjunc...	OMIM:263700
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Biliary cirrhosis...	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Biliary cirrhosis...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Biliary cirrhosis...	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Biliary cirrhosis...	ORPHA:881
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Vomiting, Protein-losing entero...	OMIM:619991
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy...	ORPHA:77261
Pelizaeus-Merzbacher Disease	Cachexia, Failure to thrive in infancy, Bowel incontinence	ORPHA:702
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Poland Syndrome	Retinal hamartoma, Abnormality of the liver, Neoplasm of the breast, Acute leukemia	ORPHA:2911
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Adrenocortical Carcinoma	Abdominal pain, Adrenocortical carcinoma, Increased body weight, Weight loss, Lung adenocarcinoma	ORPHA:1501
Osteosarcoma	Weight loss	ORPHA:668
Esophageal Atresia	Barrett esophagus, Small for gestational age, Intestinal malrotation, Failure to thrive in infanc...	ORPHA:1199
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Constipation, Gastroesopha...	ORPHA:813
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ...	ORPHA:90340
Infantile Krabbe Disease	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Vomiting, Gastroesophageal r...	ORPHA:206436
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight loss, Arth...	ORPHA:93672
Beckwith-Wiedemann Syndrome	Cardiomegaly, Feeding difficulties in infancy, Large for gestational age, Leiomyosarcoma, Neoplas...	ORPHA:116
Rett Syndrome	Constipation, Gastroesophageal reflux, Cachexia	OMIM:312750
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Short Syndrome	Poor appetite, Weight loss	ORPHA:3163
African Trypanosomiasis	Hepatomegaly, Pericarditis, Keratitis, Myocarditis, Diarrhea, Splenomegaly, Jaundice, Hepatosplen...	ORPHA:3385
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Mowat-Wilson Syndrome	Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten...	ORPHA:2152
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia, Feeding difficulties	ORPHA:217346
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Cystinosis, Nephropathic	Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Weight loss,...	OMIM:219800
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
8P23.1 Microdeletion Syndrome	High palate, Obesity, Weight loss	ORPHA:251071
Juvenile Amyotrophic Lateral Sclerosis	Gastrostomy tube feeding in infancy, Cachexia, Dysphagia	ORPHA:300605
Perry Syndrome	Weight loss	OMIM:168605
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Small for gestational age, Weight loss	ORPHA:424
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:220295
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Nasogastric tube feeding in infancy, Recurrent pneumonia, Cavernous hemangioma of the face, Acute...	ORPHA:99646
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Intestinal pseudo-obstruction, Dysphagia, Gastroparesis	OMIM:607459
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Aganglionic megacolon, Small cell lung carcinoma, Feeding d...	ORPHA:821
Choreoacanthocytosis	Hepatomegaly, Acanthocytosis, Protruding tongue, Splenomegaly, Abnormal erythrocyte enzyme level,...	ORPHA:2388
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Malnutrition, Ascites	ORPHA:75565
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Weight loss, Dysphagia	ORPHA:411602
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
X-Linked Intellectual Disability, Cabezas Type	High palate, Obesity, Cachexia	ORPHA:85293
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Congenital Fiber-Type Disproportion Myopathy	Poor appetite, Nasogastric tube feeding in infancy, Feeding difficulties, Weight loss, High palat...	ORPHA:2020
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Splenomegaly, Enlarged...	ORPHA:744
Cockayne Syndrome	Hepatomegaly, Cachexia, Feeding difficulties in infancy, Splenomegaly, Keratoconjunctivitis sicca...	ORPHA:191
Xfe Progeroid Syndrome	Failure to thrive, Ascites, Cachexia	OMIM:610965
Trisomy 18	Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia	ORPHA:3380
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Thyrotoxic Periodic Paralysis	Constipation, Obesity, Weight loss	ORPHA:79102
Goodpasture Syndrome	Glomerulonephritis, Anemia, Weight loss	OMIM:233450
Oculopharyngodistal Myopathy 1	Weight loss, High palate, Dysphagia	OMIM:164310
Schwartz-Jampel Syndrome	Cachexia, Feeding difficulties in infancy, Cleft palate, Odontogenic neoplasm, High palate, Decre...	ORPHA:800
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss	ORPHA:99885
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Bronchiectasis, Weight loss	ORPHA:60025
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Short hard palate, Anorexia	ORPHA:1969
Tsh-Secreting Pituitary Adenoma	Nausea and vomiting, Vomiting, Weight loss	ORPHA:91347
Stickler Syndrome	Slender build, Cachexia, Feeding difficulties in infancy, Osteoarthritis, Uveitis, Cleft palate, ...	ORPHA:828
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Testicular adrenal rest tumor, Feeding difficulties, Weight loss, Vomiting, Failure to thrive	ORPHA:90794
Seckel Syndrome	Cachexia	ORPHA:808
Marfan Syndrome	Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build	ORPHA:558
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia	ORPHA:740
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Norrie Disease	Cachexia, Neoplasm of the eye, Failure to thrive, Vascular neoplasm	ORPHA:649
Singleton-Merten Syndrome 2		OMIM:616298

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 Rigi

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 Rigi.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Thymidine phosphorylase facilitates retinoic acid inducible gene-I induced endothelial dysfunction.	Cell death & disease (April 2023)	Rigi^em1(IMPC)J	PMC10131517
Increased levels of endogenous retroviruses trigger fibroinflammation and play a role in kidney disease development.	Nature communications (February 2023)	Rigi^em1(IMPC)J	PMC9895454

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rigi MGI:2442858

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Rigi mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data