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Gene: Rc3h1 MGI:2685397

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

RING CCCH (C3H) domains 1

Synonyms:

5730557L09Rik, roquin

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Rc3h1 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 Rc3h1 (0 diseases)
Human diseases predicted to be associated with Rc3h1 (1426 diseases)

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

The table below shows human diseases predicted to be associated to Rc3h1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen...	ORPHA:444463
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Nephrotic syndrome, Autoimmunity, Podocyte foot process efface...	OMIM:617006
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu...	OMIM:614420
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis	OMIM:247800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc...	OMIM:619398
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Increa...	OMIM:616050
Immune Thrombocytopenia	Thrombocytopenia, Platelet antibody positive	OMIM:188030
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Fail...	OMIM:615767
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop...	OMIM:619220
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, Lymphadenopathy, B lymphocytop...	OMIM:619164
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
C1Q Deficiency 1	Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus	OMIM:613652
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus	OMIM:613783
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me...	OMIM:613779
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Abnormal natu...	OMIM:613101
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Vomiting, Reduced natura...	OMIM:619510
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Mhc Class Ii Deficiency 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Panh...	OMIM:209920
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu...	OMIM:616098
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr...	OMIM:619802
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for...	OMIM:613217
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Refractory Celiac Disease	Inflammatory abnormality of the skin, Microcytic anemia, Weight loss, Hypophosphatemia, Abdominal...	ORPHA:398063
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t...	OMIM:618108
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased F...	OMIM:304790
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Elevated circulating C-reactive protein conc...	OMIM:604416
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Weight loss, Abdominal pain, Hypoproteinemia, Ascites, Hypocalc...	ORPHA:90362
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Abdominal colic, Failure to thri...	OMIM:615863
Immunodeficiency 104	Pneumonia, Gastroesophageal reflux, Diarrhea, Chronic mucocutaneous candidiasis, Eczematoid derma...	OMIM:608971
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve...	OMIM:614470
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Diarrhea, Small for gestational age, Failure to thrive,...	OMIM:614602
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Lymphoma, Decreased CD4:CD8 ratio, Decreas...	OMIM:300853
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Immunodeficiency 75 With Lymphoproliferation	Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo...	OMIM:619126
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Lactose Intolerance, Adult Type	Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F...	OMIM:223100
Mantle Cell Lymphoma	B-cell lymphoma, Splenomegaly, Lymphadenopathy	ORPHA:52416
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder	OMIM:242880
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Immunodeficiency 27A	Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,...	OMIM:209950
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Cholestasis, Abnormal blood ion co...	ORPHA:95427
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Nausea...	ORPHA:402823
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abnormal circulating enzyme...	ORPHA:103907
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron...	OMIM:614379
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly...	OMIM:618495
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Autoimmune Hepatitis	Antineutrophil antibody positivity, Inflammation of the large intestine, Elevated circulating hep...	ORPHA:2137
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m...	OMIM:619381
Diarrhea 9	Diarrhea, Villous atrophy, Failure to thrive	OMIM:618168
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Lymphoma, Impaired T cell function, Decre...	OMIM:240500
Macrophage Activation Syndrome	Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Systemic ...	ORPHA:158061
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti...	ORPHA:26790
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA...	OMIM:619445
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Hepatomegaly, Nephrotic syndrome, A...	OMIM:603909
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ...	ORPHA:436159
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy	ORPHA:66661
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia...	OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-positive T...	ORPHA:169154
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea	OMIM:251850
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Colitis, Obesity, Cardiomegaly	ORPHA:88643
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Alpha-Heavy Chain Disease	Ascites, Malabsorption, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Dysgamma...	ORPHA:100025
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase conc...	ORPHA:567983
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Lymphoma, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Failure to thrive, Ele...	OMIM:607765
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Inc...	OMIM:256500
Complement Component 4A Deficiency	Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Failure to thri...	OMIM:602579
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Decreased lymphocyte proliferation i...	OMIM:614162
5-Oxoprolinase Deficiency	Vomiting, Diarrhea, Reduced circulating 5-oxoprolinase activity, Enterocolitis, Abdominal pain	OMIM:260005
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Failure to thrive, Increased circulating IgE level, Villous atrophy, Duodenitis, Pus...	OMIM:614328
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl...	ORPHA:567544
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea...	OMIM:615190
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade...	OMIM:618852
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti...	OMIM:613502
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Lymphoma, Hodgkin, Classic	Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag...	OMIM:236000
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Hep...	OMIM:613812
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal...	OMIM:618935
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin...	ORPHA:397596
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Neutrophilia, Hereditary	Myelodysplasia, Splenomegaly, Neutrophilia	OMIM:162830
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:2134
Gastroesophageal Reflux	Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm	OMIM:109350
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiecta...	OMIM:620632
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest...	ORPHA:92050
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Hepatosplenomegaly, Antinuclear antibody positivity, Iron def...	ORPHA:99931
Preeclampsia/Eclampsia 1	Proteinuria, Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:189800
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Diarrhea, Elevated circulating hepatic transaminase concentration, Protracted di...	ORPHA:67
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Viral hepatitis, Abnormal pancreas morpho...	ORPHA:139507
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Chylomicron Retention Disease	Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Hypotriglyceridemia, Malnutrition, Hypoch...	OMIM:246700
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of...	OMIM:614878
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Anoperinea...	OMIM:301074
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Incre...	OMIM:619644
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ...	OMIM:619377
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Skin rash, Hepatomegaly, Jaundice, Lymphadenopathy, Thrombocytope...	OMIM:603552
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa...	OMIM:308230
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ...	OMIM:300400
Systemic Lupus Erythematosus 17	Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop...	OMIM:301080
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa...	OMIM:619573
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Adenocarcinoma Of The Esophagus	Barrett esophagus, Esophageal carcinoma, Lymphadenopathy	ORPHA:99976
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ...	OMIM:612567
Cernunnos-Xlf Deficiency	Lymphopenia, Autoimmunity, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lympho...	OMIM:308240
Immunodeficiency By Defective Expression Of Mhc Class Ii	Diarrhea, Abnormal CD4:CD8 ratio, Protracted diarrhea, Pancytopenia, Decreased proportion of CD4-...	ORPHA:572
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia, Neonatal death	OMIM:265430
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Hepa...	OMIM:201475
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center, Myelodysplasia, Autoimmune hemolytic anemia, Impaired Ig c...	OMIM:608184
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine	ORPHA:46487
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Crescentic glomerulonephritis, Mesangial hypercellularity, Arthr...	OMIM:616414
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Isolated Agammaglobulinemia	Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Otitis media, Skin rash, Abnormality of ...	ORPHA:229717
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, Papillary renal cell carcinoma...	ORPHA:97290
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ...	ORPHA:277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Splenomegaly, Skin rash, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Conjunctivitis, Osteomyelitis, Autoimmunity, Skin rash, Abnormali...	ORPHA:47
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Hepatomegaly, Breast carcinoma	ORPHA:86893
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Increased circulatin...	OMIM:231100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Syndromic Diarrhea	Abnormality of iron homeostasis, Intractable diarrhea, Small for gestational age, Hepatic fibrosi...	ORPHA:84064
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir...	OMIM:620376
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Lack of bowel sounds, Elevated cir...	ORPHA:100093
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail...	OMIM:278000
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Abnormal blood...	ORPHA:810
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous cand...	ORPHA:391487
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Villous atrophy, Splenomegaly, ...	OMIM:608776
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Vomiting, Periportal f...	OMIM:251880
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Eczematoid de...	OMIM:615895
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Panc...	OMIM:618963
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat...	OMIM:620565
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency 98 With Autoinflammation, X-Linked	Antineutrophil antibody positivity, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosi...	OMIM:301078
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy...	OMIM:617241
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Q Fever	Hepatosplenomegaly, Hematuria, Antiphospholipid antibody positivity, Lupus anticoagulant, Hepatom...	ORPHA:781
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Vomiting, Elevated circulating hepati...	OMIM:614480
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Lym...	OMIM:615122
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Eosinophilic Gastroenteritis	Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti...	ORPHA:2070
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ...	ORPHA:79301
Autosomal Agammaglobulinemia	Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Skin rash, ...	ORPHA:33110
Schnitzler Syndrome	Lymphoma, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulatin...	ORPHA:37748
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ...	OMIM:613490
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pai...	ORPHA:33402
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, Vill...	OMIM:557000
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, ...	ORPHA:319487
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig...	ORPHA:83313
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Elevated circulating alkalin...	OMIM:601847
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk...	OMIM:618213
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Hepatic failure, Giant cell hepatitis, Intrahepatic cholestasis, Failure to thrive,...	OMIM:214950
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu...	OMIM:617718
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou...	OMIM:620133
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancyto...	ORPHA:228426
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Hepatitis, Cholestasis, Jaundice, Cirrhosis, Perinuclear antineutrophil antibody...	ORPHA:60
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Myasthenia Gravis	Rheumatoid arthritis, Glycosuria, Hepatitis, Systemic lupus erythematosus, Anti-acetylcholine rec...	ORPHA:589
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	ORPHA:186
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Ebola Hemorrhagic Fever	Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leuk...	ORPHA:319218
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic sy...	OMIM:608709
Hepatoportal Sclerosis	Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi...	ORPHA:64743
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Chilblains, Thromboc...	OMIM:610329
Sepsis In Premature Infants	Vomiting, Diarrhea, Increased circulating interleukin 6 concentration, Decreased liver function, ...	ORPHA:90051
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Decreased acid sphingomyelinase activity, Thr...	OMIM:607616
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hy...	ORPHA:75234
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Trichohepatoenteric Syndrome 1	Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Villous atrophy, Small for gestational age, Abnor...	OMIM:222470
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Esophagitis, Eosinophilic, 2	Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia	OMIM:610247
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation	ORPHA:79405
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia	OMIM:602079
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit...	OMIM:615207
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Eczematoid dermat...	ORPHA:83471
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis	OMIM:620425
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Galactose Epimerase Deficiency	Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay	ORPHA:79238
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co...	OMIM:235555
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas, Arthritis	ORPHA:1195
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Adult-Onset Still Disease	Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, A...	ORPHA:829
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Wolman Disease	Reduced lysosomal acid lipase activity, Vomiting, Failure to thrive, Acute hepatic failure, Splen...	OMIM:620151
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight...	ORPHA:171
Follicular Lymphoma	Lymphoma, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphadenopathy	ORPHA:545
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma	OMIM:615593
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Oral leukoplakia...	OMIM:127550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Nephronophthisis	Anemia, Renal insufficiency	ORPHA:655
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Diarrhea, Vomiting, Failure t...	OMIM:212065
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Neoplasm of ...	ORPHA:543
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-...	ORPHA:443811
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Microangiopathic hemolytic anemia, Unconjugated hyperbilirubinemia, Abdominal pain, Rec...	ORPHA:90038
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Vomiting, Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine ...	OMIM:616809
Wolman Disease	Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Hepatomegaly, Anemia, ...	ORPHA:75233
Radiation Proctitis	Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ...	ORPHA:70475
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Abdominal pain, Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Juvenile Arthritis	Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Galactosemia Iii	Vomiting, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, J...	OMIM:230350
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Systemic Lupus Erythematosus	Discoid lupus rash, Antineutrophil antibody positivity, Anti-La/SS-B antibody positivity, Leukope...	ORPHA:536
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count, Autoimmunity	OMIM:131430
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,...	ORPHA:69126
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte...	OMIM:600802
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Skin rash,...	OMIM:612714
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Vomiting, Diarrhea, Failure to thrive, Villous atrophy, High palate	OMIM:601110
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Deep derm...	ORPHA:49041
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Hematur...	ORPHA:93552
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Eczematoid dermatitis, Thrombocytopenia	OMIM:614493
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int...	ORPHA:411696
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Coproporphyria, Hereditary	Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri...	OMIM:121300
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Anemia of inadequat...	ORPHA:67044
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Vomiting, Diarrhea, Failure to thrive, Decreased cir...	ORPHA:71212
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Verrucae, Increased...	OMIM:301082
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly...	ORPHA:47612
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Drug-Induced Lupus Erythematosus	Malar rash, Hematuria, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, An...	ORPHA:231111
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr...	OMIM:620532
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb...	OMIM:616576
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Hematuria, Proteinuria, Antiphosp...	ORPHA:90060
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in...	ORPHA:231154
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Enterocolitis, Failure to thrive, Decreased pineal volume	OMIM:301108
Autoinflammation With Arthritis And Dyskeratosis	Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Increased circ...	OMIM:617388
Malaria	Anemia, Acute kidney injury, Thrombocytopenia	ORPHA:673
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ...	OMIM:301000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c...	OMIM:620210
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Malabsorption, Hyperlipidemi...	OMIM:214900
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Reduced natural killer cell count, Abnormal circulating interleukin concentratio...	ORPHA:158057
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinem...	OMIM:211600
Sweet Syndrome	Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci...	ORPHA:3243
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Obesity, Diarrhea, Malabsorption	OMIM:600955
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h...	ORPHA:1830
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti...	OMIM:613960
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat...	OMIM:617780
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome...	ORPHA:98849
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody positivity, ...	OMIM:620321
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglob...	ORPHA:3162
Cystic Echinococcosis	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Elevated...	ORPHA:400
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in...	ORPHA:3260
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:54057
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosple...	OMIM:618278
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Zygomycosis	Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis...	ORPHA:73263
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g...	ORPHA:263665
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:858
Legionnaires Disease	Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, Splenomegaly,...	ORPHA:549
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi...	OMIM:615387
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,...	ORPHA:182050
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Short stature, Jaundice	ORPHA:172
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem...	ORPHA:83469
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Cytopl...	ORPHA:93126
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Decreased circulating IgA level...	OMIM:613385
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic failure, Cholestasis, Hepatic s...	OMIM:256810
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Immunodeficiency 32B	Pneumonia, Impaired oxidative burst, Splenomegaly, Sinusitis, Eosinophilia, Hepatomegaly, Monocyt...	OMIM:226990
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Elevated circulating as...	OMIM:170100
Babesiosis	Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J...	ORPHA:108
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Mpi-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Fai...	ORPHA:79319
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ...	OMIM:300755
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea, Abdominal distention	ORPHA:2290
Granulomatous Slack Skin	Hodgkin lymphoma, Lymphoma, Abnormal lymph node morphology	ORPHA:33111
Igg4-Related Submandibular Gland Disease	Abnormal salivary gland morphology, Abnormal pancreas morphology, Increased circulating IgE level...	ORPHA:449432
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat...	ORPHA:91138
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Failure to thrive, Chroni...	OMIM:615607
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:613489
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ...	OMIM:609981
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Elevated circulating acylcarnitine concentration, Vomiting, Decreased circula...	ORPHA:26791
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA...	ORPHA:1855
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Familial Mediterranean Fever	Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease...	OMIM:249100
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Chronic oral candidiasis	OMIM:616740
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Cold Agglutinin Disease	Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Glycogen Storage Disease Vi	Failure to thrive in infancy, Postnatal growth retardation, Hepatomegaly, Increased hepatic glyco...	OMIM:232700
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:620514
Omenn Syndrome	Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Hepatomega...	OMIM:603554
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Splenomegaly, Hyperlipidemia, Portal hypertensi...	ORPHA:1414
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Vomiting, Increased circulating fe...	OMIM:618892
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Pfapa Syndrome	Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden...	ORPHA:42642
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Forsythe-Wakeling Syndrome	Nephrotic syndrome, Thrombocytopenia	OMIM:613606
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Classic Mycosis Fungoides	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He...	ORPHA:2584
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, T lymphocytop...	OMIM:618806
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:616730
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating lactate dehydrogenase concentration, Cervical lymphadenopathy, E...	OMIM:614034
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:391
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Melioidosis	Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit...	ORPHA:31202
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Gastrointestin...	OMIM:617341
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Decreased response to growth hormone stimulation test, Ground-glass opacification, C...	OMIM:610978
Congenital Enterovirus Infection	Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology...	ORPHA:292
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Transaldolase Deficiency	Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Abnormality of the kidney, Anemia	ORPHA:101028
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,...	OMIM:615934
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Giant cell hepatitis, Aminoaciduria, Nephrocalcinosis, Elevated gamma-glutamyltransf...	OMIM:208085
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L...	ORPHA:289390
Immunodeficiency 23	Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Rheumatoid factor po...	OMIM:615816
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu...	ORPHA:210136
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa...	OMIM:301220
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Hypereosinophilia, Leukocytosis, Pleural effusion, Parenchymal consolidation, Abnorm...	ORPHA:2902
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop...	ORPHA:79140
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Diarrhea, Elevated circulatin...	OMIM:602347
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto...	OMIM:598500
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis	OMIM:618398
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Preeclampsia	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:275555
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Feeding difficulties in infancy, ...	OMIM:231530
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh...	OMIM:601457
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopath...	ORPHA:100083
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of...	OMIM:616622
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:2123
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ...	ORPHA:183675
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Vomiting, Diarrhea, Hepatitis, Elevated circulating hepatic...	ORPHA:454836
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia	ORPHA:375
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Osteomyelitis, Renal insuffi...	ORPHA:36234
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic...	ORPHA:169090
Bronchopulmonary Dysplasia	Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis	ORPHA:70589
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Diarrhea, Pituitary adenoma, Hepatitis, Celiac disease, Failure to thrive, Nau...	ORPHA:199299
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Neonatal Severe Primary Hyperparathyroidism	Short stature, Hepatomegaly, Splenomegaly	ORPHA:417
Aggressive Systemic Mastocytosis	Elevated total serum tryptase, Decreased liver function, Hepatosplenomegaly, Pancytopenia, Hypers...	ORPHA:98850
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo...	OMIM:307200
Whim Syndrome 1	Decreased circulating IgG level, Verrucae, Neutropenia, Decreased circulating antibody level	OMIM:193670
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Recessive Dystrophic Epidermolysis Bullosa Inversa	Anemia, Gastrointestinal inflammation, Esophageal stricture	ORPHA:79409
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Glomerulonephritis, Hepatomegaly, Tubulointersti...	ORPHA:470
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Abno...	ORPHA:440713
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy,...	ORPHA:1572
Alopecia Totalis	Inflammation of the large intestine	ORPHA:700
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:614727
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P...	OMIM:612925
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia, Reduced 3-phosphoglycerate dehydrogenase activity	OMIM:601815
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c...	OMIM:206100
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Rhabdoid Tumor	Renal neoplasm, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neu...	ORPHA:289916
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte...	OMIM:611182
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Polycystic ovari...	ORPHA:79259
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosine ...	OMIM:613179
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Leukocytosis, Sple...	ORPHA:457077
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hepatic failure, Splenomegaly, Pyloric stenosis	ORPHA:664
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Hyperkalemia, Intestinal perforation, Abnormal circulating chemokine co...	ORPHA:544482
Sandhoff Disease	Hepatomegaly, Splenomegaly, Failure to thrive	ORPHA:796
Lichen Planopilaris	Abnormal intestine morphology, Hepatitis	ORPHA:525
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Jaundice, Hemolytic anemia	ORPHA:33574
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612924
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz...	OMIM:243700
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Hematuria, Knee osteoarthritis,...	ORPHA:2035
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Malabsorption, Intestinal ...	ORPHA:2930
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy...	OMIM:612926
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis	ORPHA:922
Alg6-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Abnormality of the liver, Abnorma...	ORPHA:79320
Simple Cryoglobulinemia	Nephritis, Rheumatoid factor positive, Viral hepatitis, Renal insufficiency, Mesangial hypercellu...	ORPHA:91139
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc...	OMIM:269200
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Jejunoileal ulceration, Rectal abscess, Intestinal malrotation, Ps...	ORPHA:436252
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Iron deficiency...	ORPHA:309031
Colonic Atresia	Peptic ulcer, Abdominal situs inversus, Colonic atresia, Duodenal stenosis, Abnormal mesentery mo...	ORPHA:1198
Meconium Aspiration Syndrome	Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothorax, Abnormal pulmon...	ORPHA:70588
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Weig...	OMIM:615846
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr...	OMIM:615237
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel...	OMIM:181000
Isovaleric Acidemia	Hyperglycinuria, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia, Elevate...	OMIM:243500
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Decreased liv...	OMIM:608104
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal leukocyte...	ORPHA:169105
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Renal insufficiency, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia,...	ORPHA:27
Mycosis Fungoides	Neoplasm of the skin, Lymphadenopathy, Lymphoma	OMIM:254400
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Skin rash, My...	OMIM:617591
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia	ORPHA:67048
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly	ORPHA:77260
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Omenn Syndrome	Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Hepatomegaly...	ORPHA:39041
Infantile Sialic Acid Storage Disease	Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Hig...	OMIM:269920
Leigh Syndrome, Nuclear	Failure to thrive, Hepatocellular necrosis	OMIM:256000
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs...	OMIM:619374
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia, Neonatal death	OMIM:257100
Coach Syndrome 3	Nephronophthisis, Portal fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int...	OMIM:619113
Acute Liver Failure	Gastrointestinal hemorrhage, Vomiting, Diarrhea, Hepatitis, Elevated circulating hepatic transami...	ORPHA:90062
Bleeding Disorder, Platelet-Type, 21	Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:617443
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Bilateral cryptorchidism, Death in infancy, Neonatal death, Unilateral cryptorchidism	OMIM:300219
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Anemia, Congenital Dyserythropoietic, Type Iv	Hypospadias, Increased RBC distribution width, Increased circulating lactate dehydrogenase concen...	OMIM:613673
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG...	ORPHA:29073
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Hemangioma, Increased circulating IgG level	ORPHA:284227
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure, Myeloid leukemia	ORPHA:331
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test...	ORPHA:54251
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Hepatomegaly, Glomerulonephritis, ...	OMIM:614376
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ...	ORPHA:275
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Decreased liver function, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Pro...	OMIM:238970
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diarrhea, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Apl...	OMIM:102700
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Fibroma, Decreased circulating antibody l...	OMIM:619750
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp...	OMIM:617099
Letterer-Siwe Disease	Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma...	OMIM:246400
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha...	OMIM:147060
Chronic Granulomatous Disease	Eczematoid dermatitis, Liver abscess, Malabsorption, Otitis media, Splenomegaly, Hepatomegaly, Tr...	ORPHA:379
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia, Hepatomegaly	OMIM:231000
Sitosterolemia 1	Stomatocytosis, Giant platelets, Increased circulating lactate dehydrogenase concentration, Impai...	OMIM:210250
Bile Acid Malabsorption, Primary, 1	Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption	OMIM:613291
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abnormal circul...	ORPHA:103910
Formiminoglutamic Aciduria	Anemia, Abnormal concentration of acylcarnitine in the urine, Megaloblastic anemia, Abnormal circ...	ORPHA:51208
Glycogen Storage Disease Ic	Inflammation of the large intestine, Cyclic neutropenia, Gout, Chronic pancreatitis, Hyperuricemi...	OMIM:232240
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Myeloma, Multiple	Paraproteinemia, Multiple myeloma	OMIM:254500
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Giant cell hepatitis, Nephrocalcinosis, Aminoaciduria, Elevated circulating hepatic ...	OMIM:613404
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos...	ORPHA:77297
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Catastrophic Antiphospholipid Syndrome	Anticardiolipin IgG antibody positivity, Microangiopathic hemolytic anemia, Systemic lupus erythe...	ORPHA:464343
Niemann-Pick Disease, Type A	Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspa...	OMIM:257200
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Reti...	OMIM:266200
Zollinger-Ellison Syndrome	Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ...	ORPHA:913
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ...	OMIM:619708
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Castleman Disease	Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Generalized lymphad...	ORPHA:160
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Elevated total serum tryptase, Malnutrition, Abn...	ORPHA:79456
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Slc35A1-Cdg	Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Reduced natural killer cell act...	OMIM:603553
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Medullary Thyroid Carcinoma	Pheochromocytoma, Neoplasm of the skeletal system, Medullary thyroid carcinoma, Abnormal liver pa...	ORPHA:1332
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Juvenile rheumat...	ORPHA:85414
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Increased circulating lactate dehydrogena...	ORPHA:91547
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia...	ORPHA:707
Immune Thrombocytopenia	Hematuria, Thrombocytopenia, Anti-platelet antigen antibody positivity	ORPHA:3002
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a...	ORPHA:906
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Glycogen Storage Disease Ixb	Diarrhea, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced ...	OMIM:261750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin...	OMIM:175500
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic ...	OMIM:231680
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Vomiting, Elevated circulating hepatic transaminase concen...	OMIM:614921
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Immunodeficiency 22	Autoimmunity, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia, Chr...	OMIM:615758
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega...	OMIM:605309
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Nephropathy, Focal segmental glomerulosclerosis, Chronic kidney disease, Gout, Renal cyst, Neutro...	OMIM:617056
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Proteinuria, Schistocytosis, Thrombocytopenia...	OMIM:274150
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration...	ORPHA:209902
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Lesch-Nyhan Syndrome	Anemia, Hematuria, Gout, Renal insufficiency	ORPHA:510
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the skeletal system, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squamo...	ORPHA:424019
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Cirrhosis, H...	ORPHA:264580
American Trypanosomiasis	Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Aganglionic megacolon, Hepatomegaly, ...	ORPHA:3386
Chylomicron Retention Disease	Diarrhea, Vomiting, Failure to thrive, Elevated circulating hepatic transaminase concentration, H...	ORPHA:71
Congenital Rubella Syndrome	Skin rash, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Polycythemia, Failure to thrive, Ascites, Hyperbilirub...	OMIM:606812
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia	OMIM:619693
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Sidero...	OMIM:617021
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Combined Immunodeficiency Due To Dock8 Deficiency	Verrucae, Increased circulating IgE level, Squamous cell carcinoma of the vulva, Squamous cell ca...	ORPHA:217390
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Congenital thrombocytopenia, Anemia	OMIM:618886
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Increased ci...	OMIM:260920
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections	ORPHA:3348
Rh Deficiency Syndrome	Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Re...	ORPHA:71275
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Nephroblastoma	Neoplasm, Nephroblastoma, Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:654
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Acquired Hypertrichosis Lanuginosa	Neoplasm of the respiratory system, Neoplasm, Lymphadenopathy, Ovarian neoplasm, Neoplasm of the ...	ORPHA:2221
Atelis Syndrome 1	Eczematoid dermatitis, Leukopenia, Glue ear, Thrombocytopenia, Anemia, Bronchiectasis	OMIM:620184
Sapho Syndrome	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Chron...	ORPHA:793
Pachydermoperiostosis	Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Osteomyelitis, Malabsorption, S...	ORPHA:2796
Farber Lipogranulomatosis	Failure to thrive, Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Arthriti...	OMIM:228000
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Elevated...	OMIM:615688
Overlap Myositis	Rheumatoid arthritis, Elevated circulating hepatic transaminase concentration, Systemic lupus ery...	ORPHA:206572
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Recurrent pneumonia, Splenomegaly, High palate	OMIM:615637
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hermansky-Pudlak Syndrome 1	Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia	OMIM:203300
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hepatitis	ORPHA:199296
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration...	ORPHA:90041
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:616589
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anemia, Abnormality of neutrophils, Chro...	ORPHA:33355
Rift Valley Fever	Melena, Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious...	ORPHA:319251
Recurrent Respiratory Papillomatosis	Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel...	ORPHA:60032
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed...	ORPHA:71272
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Constipa...	ORPHA:99745
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic tran...	OMIM:619525
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem...	ORPHA:251004
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Elevated circulating alkaline phosphatase concentrati...	ORPHA:480520
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Rheumatoid factor positi...	ORPHA:48435
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, K...	OMIM:240300
Mevalonic Aciduria	Diarrhea, Vomiting, Fluctuating splenomegaly, Failure to thrive, Elevated circulating hepatic tra...	OMIM:610377
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Anti-centromere antibody positivity, Osteomyelitis, ...	ORPHA:90291
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Amyloidosis, Hereditary Systemic 2	Cholestasis, Splenomegaly, Skin rash, Hepatomegaly	OMIM:105200
Stuve-Wiedemann Syndrome 2	Eczematoid dermatitis, Thrombocytopenia	OMIM:619751
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Hyperglycinemia	OMIM:619063
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating prolactin concentration, Pituita...	OMIM:131100
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Short stature, Hepatomegaly, Splenomegaly	ORPHA:2204
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased liver functi...	ORPHA:231222
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Elevated circulating hepatic tr...	ORPHA:340
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy	ORPHA:353298
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Primary Ciliary Dyskinesia	Polysplenia, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascu...	ORPHA:244
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ...	ORPHA:2908
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Noonan Syndrome 12	Atopic dermatitis, Lymphopenia, Thrombocytopenia	OMIM:618624
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Mitchell-Riley Syndrome	Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I...	OMIM:615710
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Dark urine, Hemolytic anemia	OMIM:301015
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Ascites, Jaundice, Cirrhosis, Abdominal distention, In...	OMIM:215600
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
B4Galt1-Cdg	Inflammatory abnormality of the skin, Diarrhea, Elevated circulating hepatic transaminase concent...	ORPHA:79332
Specific Granule Deficiency 2	Recurrent pneumonia, Recurrent otitis media, Absent neutrophil specific granules, Thrombocytopeni...	OMIM:617475
Hemochromatosis, Type 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Arthritis, Neutr...	OMIM:604250
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod...	OMIM:233450
Whim Syndrome	Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop...	ORPHA:51636
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Ground-gla...	OMIM:620233
Stormorken Syndrome	Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Hematuria, Thromb...	OMIM:185070
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Carcinoid tumor, Chronic noninfectious lymphadenopathy	ORPHA:100084
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating...	ORPHA:263501
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Mccune-Albright Syndrome	Bone marrow hypocellularity, Gastroesophageal reflux, Hepatitis, Increased circulating prolactin ...	ORPHA:562
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Intestinal obstructi...	ORPHA:32960
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neutropenia, Schistocytosis, Anemia...	OMIM:301110
Alg1-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Abnormality of the gastroi...	ORPHA:79327
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Spherocytosis, Splenomegaly	ORPHA:66518
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Increased circulat...	OMIM:616395
Thymic Neuroendocrine Tumor	Pituitary adenoma, Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Increased circulati...	ORPHA:97289
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Ascites...	OMIM:306400
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Increased circulating lactate dehydrogena...	ORPHA:514
Oculoskeletodental Syndrome	Protein-losing enteropathy, Splenomegaly, Cryptorchidism, Hypocalcemia, Hepatomegaly, Macroglossi...	OMIM:618440
Cinca Syndrome	Abnormality of neutrophils, Nausea and vomiting, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia...	ORPHA:1451
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Renal insufficiency	ORPHA:28
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ...	OMIM:614742
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Ascites	ORPHA:2414
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Abnormality of thrombocytes	ORPHA:3204
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Vomiting, Diarrhea, Gastroesophageal reflux, Villous atrophy, H...	ORPHA:79328
Reactive Arthritis	Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust...	ORPHA:29207
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Kawasaki Disease	Hypoalbuminemia, Strawberry tongue, Diarrhea, Hepatitis, Conjunctivitis, Cervical lymphadenopathy...	ORPHA:2331
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia	OMIM:613987
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:613327
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula, Hypoproteinemia	OMIM:221400
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Eczematoid dermatitis, Pancytopenia, ...	OMIM:606054
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level, Alveolar cell carcinoma	OMIM:178500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hashimoto thyroiditis, Leukocytosis, Thrombocytopenia	ORPHA:83601
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia...	ORPHA:309108
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level	ORPHA:90280
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Polyuria, ...	OMIM:613845
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Gastrocutaneous Syndrome	Hiatus hernia, Peptic ulcer	OMIM:137270
Anaplastic Thyroid Carcinoma	Goiter, Neoplasm of the skeletal system, Lymphadenopathy, Nodular goiter, Anaplastic thyroid carc...	ORPHA:142
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:520
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2668
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Enlarged platelet dense granules, Re...	OMIM:608233
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Autoimmunity, Episcleritis, S...	ORPHA:525731
Familial Pancreatic Carcinoma	Peritoneal abscess, Colon cancer, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, H...	ORPHA:1333
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Peptic ulcer, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism	OMIM:145981
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le...	ORPHA:809
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Recurrent bronchitis, Asplenia, Bronchiectasis	OMIM:244400
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Aicardi-Goutieres Syndrome 5	Chilblains, Thrombocytopenia	OMIM:612952
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r...	ORPHA:79127
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia	OMIM:620365
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma...	OMIM:603585
Kaposi Sarcoma	Neoplasm of the skin, Abnormality of the spleen, Abnormality of the liver, Hemangioma, Generalize...	ORPHA:33276
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Short stature	OMIM:612526
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr...	OMIM:258900
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:50918
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Feeding difficulties in infancy, Cirrhosis, P...	ORPHA:355
Hereditary Folate Malabsorption	Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto...	ORPHA:90045
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Uveitis, Malabsorption, Splenomegaly, Infectious encephali...	ORPHA:3452
Glycogen Storage Disease Ixc	Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepato...	OMIM:613027
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity, ...	OMIM:617303
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the eye...	ORPHA:33577
Pelger-Huet Anomaly	Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Hyposegmentation of neutrophil nu...	OMIM:169400
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Failure to thrive, Impaired T cell function, Decreased testicular size, Splenomegaly, L...	OMIM:201100
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Ab...	ORPHA:79240
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Skin rash, Abscess, Splenomegaly, Pustule, Hepatomeg...	OMIM:612852
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, ...	OMIM:235255
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes...	OMIM:208540
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorr...	OMIM:276700
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent respiratory infections, Eosinophilia, Scoliosis, Atelectasis	ORPHA:2314
Hurler-Scheie Syndrome	Hepatomegaly, Rhinitis, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat...	OMIM:618372
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Thyroid Lymphoma	Lymphadenopathy, Lymphoma, Goiter	ORPHA:97285
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Thrombocytopenia, Neutropenia, Anemia	OMIM:614520
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	B-cell lymphoma, Burkitt lymphoma, Osteochondroma, Generalized lymphadenopathy	OMIM:620232
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Wolfram Syndrome 2	Peptic ulcer, Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Spl...	OMIM:611881
Multiple Endocrine Neoplasia Type 4	Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Elevated ci...	ORPHA:276152
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Hyperbili...	OMIM:301068
Familial Mediterranean Fever	Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Ery...	ORPHA:342
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic...	OMIM:251290
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Spastic Paraplegia 84, Autosomal Recessive	Crohn's disease	OMIM:619621
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Cocaine Intoxication	Vomiting, Increased circulating lactate dehydrogenase concentration, Gastrointestinal infarctions...	ORPHA:90068
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Increased circulating ferritin concentration, Portal hypertensio...	ORPHA:465508
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pulmonary infiltrates, Pn...	OMIM:612387
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Feeding difficulties in infa...	OMIM:619046
Igg4-Related Pachymeningitis	Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating complement concen...	ORPHA:449427
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Osteomyelitis, Pancytopenia, Splenomeg...	OMIM:259700
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Hepatomegaly, Pancreatitis, T...	OMIM:251000
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Biliary tract abnormality, Neoplasm of the liver, Cir...	ORPHA:90003
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Polycythemia Vera	Early satiety, Gastrointestinal hemorrhage, Acute leukemia, Polycythemia, Leukocytosis, Splenomeg...	ORPHA:729
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Vascular Hyalinosis	Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption	OMIM:277175
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center, Angiosarcoma	ORPHA:90186
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy	ORPHA:343
Mucopolysaccharidosis Type 7	Ascites, Splenomegaly, Hepatitis	ORPHA:584
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Increa...	ORPHA:232
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hyposerinemia, Gastroesophageal reflux, Esophagitis, Feeding difficulties	ORPHA:79350
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenome...	ORPHA:1655
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126840
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired...	ORPHA:811
Igg4-Related Ophthalmic Disease	Retroperitoneal fibrosis, Lymphoma, Increased circulating IgE level, Increased circulating IgG4 l...	ORPHA:449563
Carney Triad	Adrenocortical adenoma, Ascites, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma,...	ORPHA:139411
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Increased HDL cholesterol concentration, Osteomyelitis, Obes...	ORPHA:70591
Roifman Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy	OMIM:616651
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:611126
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Decreased methionine synthase activity, Thrombocytopenia,...	OMIM:614857
Aicardi-Goutieres Syndrome 1	Elevated circulating hepatic transaminase concentration, Chilblains, Splenomegaly, Antiphospholip...	OMIM:225750
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Increased circulating IgG4 level, Abnormality of the submandi...	ORPHA:79078
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Acute hepatic...	OMIM:618641
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphoma, Lymphopenia, Decreas...	OMIM:208900
Gastrocutaneous Syndrome	Hiatus hernia, Peptic ulcer	ORPHA:2069
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy...	OMIM:254900
Farber Disease	Recurrent upper respiratory tract infections, Atelectasis, Hepatosplenomegaly, Nodular pattern on...	ORPHA:333
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Lig4 Syndrome	Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly	ORPHA:99812
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Hepatomegaly, Abdominal pai...	ORPHA:575
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ...	ORPHA:2538
Leptospirosis	Acute kidney injury, Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infection...	ORPHA:509
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prolonged neon...	ORPHA:499009
Nephronophthisis 11	Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kid...	OMIM:613550
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Reticulocytopenia, D...	ORPHA:300298
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Gaucher Disease, Type Ii	Gastroesophageal reflux, Failure to thrive, Splenomegaly, Hepatomegaly, Protuberant abdomen, Thro...	OMIM:230900
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Decreased methionine synthase activity,...	OMIM:277380
Visceral Myopathy 1	Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad...	OMIM:155310
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St...	ORPHA:567546
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased liver function, Abnormal lymph...	ORPHA:85450
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Peptic ulcer, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparath...	OMIM:600740
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Ele...	OMIM:251100
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abnormality of the liver, Abscess, Eosinophilia, Peritoniti...	ORPHA:228123
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Ot...	OMIM:612541
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphyse...	OMIM:613177
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Persistence of hemoglo...	OMIM:260400
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Lymphoma, Splenomegaly, Hepatomegaly,...	ORPHA:33226
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme...	OMIM:263200
Wolfram Syndrome 1	Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Thro...	OMIM:222300
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Gastrointestinal hemorrhage, Intestinal bleeding...	ORPHA:79076
Lujo Hemorrhagic Fever	Abdominal cramps, Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, In...	ORPHA:319213
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Cog8-Cdg	Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Failure to t...	ORPHA:95428
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126850
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Protruding tongue, Splenomegaly, Decreased beta-galact...	OMIM:230600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, ...	OMIM:235400
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper ac...	OMIM:614946
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Esophageal varix	OMIM:616028
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:244242
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Splenomegaly...	ORPHA:2905
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Neuraminidase Deficiency	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Short stature, Vacuolated lymphocytes, Bone-ma...	OMIM:256550
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Failure to thrive, Polysplenia, Exocrine p...	OMIM:619418
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Failure to thrive, Increased circulating IgE level, Psoriasiform dermatitis, Mal...	OMIM:615508
Holocarboxylase Synthetase Deficiency	Perioral eczema, Organic aciduria, Eczematoid dermatitis, Keratoconjunctivitis, Thrombocytopenia	ORPHA:79242
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Hep...	OMIM:251110
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Reticulocytopenia, B...	ORPHA:508542
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal...	OMIM:618882
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t...	ORPHA:79408
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly	ORPHA:3035
Zika Virus Disease	Myelitis, Skin rash, Infectious encephalitis, Arthritis, Thrombocytopenia, Conjunctivitis, Maculo...	ORPHA:448237
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ...	OMIM:242900
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification...	OMIM:607625
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor...	ORPHA:98870
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Urethra...	OMIM:613989
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Sengers Syndrome	3-Methylglutaconic aciduria, Thrombocytopenia	OMIM:212350
Lysinuric Protein Intolerance	Vomiting, Diarrhea, Hemophagocytosis, Failure to thrive, Malnutrition, Increased circulating ferr...	OMIM:222700
Stt3B-Cdg	Micropenis, Thrombocytopenia	ORPHA:370924
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca	OMIM:270150
Parathyroid Carcinoma	Peptic ulcer, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, ...	ORPHA:143
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer	ORPHA:3217
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep...	ORPHA:728
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Conjunctivitis, Ascites, Nausea and vomiting, Episcleritis, Skin rash, Splenomegaly, He...	ORPHA:36412
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia, Myelodysplasia	OMIM:617827
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Biliary cirrhosis, Lymphoma, Leukopenia,...	ORPHA:2298
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:256040
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly	OMIM:615630
Hereditary Hyperekplexia	Hiatus hernia, Esophagitis, Gastroesophageal reflux	ORPHA:3197
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum...	ORPHA:538
Acquired Purpura Fulminans	Hepatic failure, Skin rash, Thrombocytopenia	ORPHA:49566
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Increas...	ORPHA:167
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Congenital Disorder Of Glycosylation, Type Ix	Micropenis, Thrombocytopenia	OMIM:615597
Bloom Syndrome	Neoplasm of the skin, Decreased circulating IgG level, Recurrent tonsillitis, Lymphoma, Malignant...	ORPHA:125
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn...	OMIM:619991
Chronic Mucocutaneous Candidiasis	Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Cheilitis	ORPHA:1334
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Scrub Typhus	Nausea and vomiting, Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocardit...	ORPHA:83317
Hyperlipoproteinemia, Type I	Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ...	OMIM:238600
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Hepatosplen...	OMIM:309900
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Acute kidney injury, Increased circulating lactate dehydrogenase concentr...	ORPHA:447
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Leukopenia, Vesicouretera...	OMIM:603467
Neuroblastoma	Elevated urinary homovanillic acid, Increased circulating lactate dehydrogenase concentration, El...	ORPHA:635
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decrease...	OMIM:203800
Mogs-Cdg	Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Decreased c...	ORPHA:79330
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Abnormal renal morp...	OMIM:227650
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Anemia, Reticulocyt...	OMIM:600901
Mirage Syndrome	Hypospadias, Microphallus, Aspiration pneumonia, Recurrent urinary tract infections, Lymphopenia,...	OMIM:617053
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective pro...	OMIM:612132
Blue Rubber Bleb Nevus	Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Congenital kyphoscoliosis, Atelectasis, Kyphoscoliosis, Beaking of vertebral bodie...	ORPHA:536467
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con...	ORPHA:288
Crimean-Congo Hemorrhagic Fever	Parotitis, Ascites, Increased circulating IgG level, Leukopenia, Pancytopenia, Leukocytosis, Sple...	ORPHA:99827
Plasminogen Deficiency, Type I	Nephritis, Periodontitis, Decreased level of plasminogen, Conjunctivitis, Duodenal ulcer	OMIM:217090
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Synovitis, Knee osteoarthritis, Antinuclear antibody posi...	ORPHA:85408
Acute Disseminated Encephalomyelitis	Myelitis, Herpes simplex encephalitis, Optic neuritis, Anti-myelin oligodendrocyte glycoprotein a...	ORPHA:83597
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic anemia, Neutro...	OMIM:612562
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Anti-platelet antigen antibody positivity, Thrombocytopenia, Increased mea...	OMIM:620475
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Dec...	OMIM:612301
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Igg4-Related Thyroid Disease	Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadeniti...	ORPHA:64744
Interstitial Lung And Liver Disease	Aminoaciduria, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Chole...	OMIM:615486
Pseudo-Torch Syndrome 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal renal corticomedu...	OMIM:617397
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,...	ORPHA:699
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia...	OMIM:275350
Dengue Fever	Hepatomegaly, Leukopenia, Skin rash, Thrombocytopenia	ORPHA:99828
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Hepatomegaly, Feeding difficulties in infancy, Constipation, Hyp...	OMIM:239200
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Hyposerinemia, Vomiting, Gastroesophageal reflux, Failure to thrive, Esophagitis,...	ORPHA:79351
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic ar...	ORPHA:449280
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Poikiloderma With Neutropenia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ...	OMIM:604173
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp...	OMIM:200995
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac...	OMIM:601399
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hyperuricemia, Polycystic ovaries, Hepatic steatosis, Cirrhosis, Pancreatitis, Hype...	ORPHA:79083
Juvenile Polyposis Syndrome	Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Abdomi...	ORPHA:2929
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature, Growth delay	OMIM:618541
Biotinidase Deficiency	Vomiting, Diarrhea, Skin rash, Splenomegaly, Hyperammonemia, Feeding difficulties in infancy, Seb...	OMIM:253260
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Urethr...	OMIM:613990
Mucopolysaccharidosis, Type Iiib	Diarrhea, Splenomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Cardiomegaly, Hepa...	OMIM:252920
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Diarrhea, Dysphagia, Splenomegaly	OMIM:252930
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Eczematoid derma...	OMIM:617052
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:99901
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Hypercalcemia, Nausea a...	ORPHA:99880
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Cholecystitis, Macrocytic anemia, Splenomeg...	OMIM:615512
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Bone marrow hypocellularity, Renal agenesis, Horseshoe kidney, Panc...	OMIM:227645
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Squamous cell carcinoma of the skin, Decreased testicular size, ...	OMIM:620040
Short-Rib Thoracic Dysplasia 12	Atelectasis, Splenomegaly, Neonatal death, Hypoplastic nipples, Pulmonary hypoplasia	OMIM:269860
Hoyeraal-Hreidarsson Syndrome	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Failure to thrive, Decreased liver function, Elevated circulating aspart...	OMIM:608779
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Red urine, Hepatomegaly, Jaundice, Pink urine, Thrombocytopenia, Re...	OMIM:263700
Mucopolysaccharidosis Type 6	Failure to thrive, Splenomegaly, Sinusitis, Macroglossia, Chronic otitis media	ORPHA:583
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Multiple Endocrine Neoplasia Type 1	Diarrhea, Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null ce...	ORPHA:652
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Chronic sinusitis, Thrombocytopenia, Micropenis, Acute lym...	OMIM:606593
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating hepatic transaminase concentration, Leukopenia, Vesicoureteral reflux, Hydro...	OMIM:301056
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Nausea and vomiting, Episodic abdominal pa...	ORPHA:405
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Hydrocele testis, Feeding difficulties	OMIM:618154
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Skin rash, Reduced holocarboxyl...	OMIM:253270
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Recurrent lower respiratory tract infections, Scoliosis, Hyperlordosis, Atelectasis	ORPHA:258
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Oral-pharyngeal dysphagia,...	ORPHA:95455
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Failure to thrive, Leukocytosis, Splenomegaly, Hypocalcemia, Elevated circula...	ORPHA:289157
Esophageal Atresia	Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Small for gesta...	ORPHA:1199
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp...	OMIM:259720
Bardet-Biedl Syndrome	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	ORPHA:110
Occipital Horn Syndrome	High, narrow palate, Gastroesophageal reflux, Hepatitis, Cholestasis, Gastroparesis, Esophagitis,...	ORPHA:198
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Hypomagnesemia, As...	OMIM:618183
Copper Deficiency, Familial Benign	Anemia, Seborrheic dermatitis	OMIM:121270
Alg8-Cdg	Anemia, Elevated circulating hepatic transaminase concentration, Thrombocytopenia	ORPHA:79325
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Acute hepati...	ORPHA:36426
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Congenital thrombocytopenia, Intermittent ...	OMIM:313900
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Vomiting, Failure to thrive, Malnutrition, Pyoderma, Constipation, Gastrointestinal in...	ORPHA:79404
Turner Syndrome Due To Structural X Chromosome Anomalies	High, narrow palate, Hepatic fibrosis, Inflammation of the large intestine, Cholestatic liver dis...	ORPHA:99413
Mosaic Monosomy X	High, narrow palate, Hepatic fibrosis, Inflammation of the large intestine, Cholestatic liver dis...	ORPHA:99228
Monosomy X	High, narrow palate, Hepatic fibrosis, Inflammation of the large intestine, Cholestatic liver dis...	ORPHA:99226
Turner Syndrome	High, narrow palate, Hepatic fibrosis, Inflammation of the large intestine, Cholestatic liver dis...	ORPHA:881
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Decre...	OMIM:277400
Tick-Borne Encephalitis	Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase...	ORPHA:297
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, T lymphocytopenia, Decreased circulating IgA level, Increased ...	OMIM:242860
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto...	ORPHA:31150
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic...	ORPHA:284
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Systemic lupus erythematosus, Hyperspl...	ORPHA:77293
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Frontometaphyseal Dysplasia 2	Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, High palat...	OMIM:617137
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Periodontitis, Abnormality of neutrophils, Oral leu...	ORPHA:1775
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Decreased circulating IgG level, Decreased...	OMIM:615577
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Bone marrow hypocellularity, Annular pancreas, Renal agenesis, Hors...	OMIM:227646
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Acute hepati...	ORPHA:537
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, ...	OMIM:608013
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Thrombocytopenia	OMIM:224230
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Horseshoe kidney, Abnormal platelet morphology, Thromb...	ORPHA:46059
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Neuroendocrine neoplasm, Ascites, Chronic noninfectious lymphadenopathy, ...	ORPHA:100086
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi...	OMIM:619743
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Renal hypoplasia, Elevated circulat...	OMIM:620005
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten...	ORPHA:124
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia...	OMIM:618282
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Hype...	ORPHA:565612
Malt Lymphoma	Anemia, B-cell lymphoma, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Elevated...	OMIM:615356
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Thrombocytopenia	OMIM:619980
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Maternal Uniparental Disomy Of Chromosome 6	Eczematoid dermatitis, Thrombocytopenia	ORPHA:96181
Hennekam Syndrome	Erysipelas, Ascites, Lymphopenia, Malabsorption, Splenomegaly, Hypocalcemia, Lymphangioma, Lympha...	ORPHA:2136
Snakebite Envenomation	Acute kidney injury, Thrombocytopenia	ORPHA:449285
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi...	OMIM:615067
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Renal insufficiency, Hydronephrosis, Thrombocytopenia, Anemia, Hypospadias, Hemo...	OMIM:611209
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, O...	ORPHA:31205
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Constipation, Hepatomegaly, Abdominal pain	ORPHA:163746
Primary Hepatic Neuroendocrine Carcinoma	Neuroendocrine neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermitt...	ORPHA:100085
Scheie Syndrome	Hepatomegaly, Rhinitis, Splenomegaly	ORPHA:93474
Adenocarcinoma Of The Anal Canal	Neoplasm of the skeletal system, Neoplasm of the liver, Neoplasm of the rectum, Anal canal adenoc...	ORPHA:424016
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Autoimmune hemol...	OMIM:251260
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal circulating enzyme concentration or activity, Gastrostomy t...	ORPHA:512
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Sarcoidosis	Abnormal lymph node morphology, Erythema nodosum, Hepatomegaly, Tubulointerstitial nephritis, Ren...	ORPHA:797
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Lymphopenia, Leukopenia, Decreased proportion ...	OMIM:242840
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Cholelithiasis, Normochromic anemia	OMIM:618775
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Distal re...	ORPHA:2785
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:77261
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Atelectasis, Splenic cyst, Cryptorchidism, Pulmonary artery atresia, Pulmonary hypoplasia	OMIM:620371
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Pneumocystosis	Abnormal neutrophil count, Neoplasm, Increased circulating antibody level	ORPHA:723
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ...	OMIM:617941
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Increa...	ORPHA:79277
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Hyperparathyroidism, Atelectasis, Cryptorchidism, Death in infancy, Thrombocytopen...	ORPHA:534
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Thrombocytopenia...	OMIM:616271
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Behçet Disease	Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Endocarditis, Gastrointestinal hemorr...	ORPHA:117
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:221139
Subcorneal Pustular Dermatosis	Multiple myeloma, Increased circulating antibody level	ORPHA:48377
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Conjunctivitis, Heparan sulfate excretion in urine, Hepatosplenomega...	ORPHA:505248
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoi...	ORPHA:100080
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Gastroparesis, Obesity, Splen...	OMIM:616368
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Renal hypoplasia, Recurrent otitis media, Lymphopenia, Pancytopenia, L...	OMIM:620654
Adams-Oliver Syndrome	Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Thrombocytopenia	ORPHA:974
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Macrov...	OMIM:613070
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Protein-losing enteropathy, Pericardial lymphangiectasia, Erysipelas, Intestinal...	OMIM:235510
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Periodic Fever, Familial, Autosomal Dominant	Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis	OMIM:142680
Recon Progeroid Syndrome	Anemia, Keratoconjunctivitis sicca, Thrombocytopenia	OMIM:620370
Necrotizing Enterocolitis	Peritonitis, Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	High, narrow palate, Vomiting, Gastroesophageal reflux, Failure to thrive, Decreased response to ...	ORPHA:96182
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hyperlordosis, Scoliosis, Respiratory tract infection, Atelectasis	ORPHA:365
22Q11.2 Deletion Syndrome	Cholelithiasis, Atelectasis, Abnormal lung lobation, Cryptorchidism, Splenomegaly, Hypoplasia of ...	ORPHA:567
Digeorge Syndrome	Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Atelectasis, Splenomegaly, Ovarian c...	OMIM:188400
Cogan Syndrome	Keratitis, Episcleritis, Leukocytosis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt...	ORPHA:1467
Alg3-Cdg	Neural tube defect, Pulmonary hypoplasia	ORPHA:79321
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Capil...	ORPHA:508533
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis	OMIM:259730
Glycogen Storage Disease Ii	Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydrogenase concen...	OMIM:232300
Bloom Syndrome	Decreased circulating IgG level, Lymphoma, Decreased circulating IgA level, Cryptorchidism, Hepat...	OMIM:210900
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy, Pulmonary capillary hemangiomatosis	ORPHA:199241
Hypoplasminogenemia	Periodontitis, Abnormality of the ovary, Decreased level of plasminogen, Duodenal ulcer, Cervicitis	ORPHA:722
Dermatosparaxis Ehlers-Danlos Syndrome	Hiatus hernia, Esophagitis, Gastroesophageal reflux	ORPHA:1901
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:420741
Neuroleptic Malignant Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:94093
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Cryptorchidism	ORPHA:3409
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Uveitis, Elevated circulating hepatic transaminase concent...	ORPHA:99826
Bernard-Soulier Syndrome	Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Partially duplicated kidney, Macroscopi...	ORPHA:274
Sacral Agenesis With Vertebral Anomalies	Abnormal vertebral morphology, Vertebral clefting, Neonatal death	OMIM:615709
Noonan Syndrome 4	Hydronephrosis, Ureteral duplication, Thrombocytopenia	OMIM:610733
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Fanconi Anemia, Complementation Group B	Micropenis, Aplastic anemia, Renal agenesis, Thrombocytopenia	OMIM:300514
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Gastroesophageal reflux, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, High ...	OMIM:617913
Fetal And Neonatal Alloimmune Thrombocytopenia	Hematuria, Neonatal alloimmune thrombocytopenia	ORPHA:853
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Seborrheic dermatiti...	OMIM:301072
Wolfram Syndrome	Gastrointestinal hemorrhage, Abnormal mesentery morphology, Malabsorption, Feeding difficulties i...	ORPHA:3463
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Renal insufficiency, Glomerulopathy, Megaloblastic anemia, Thr...	ORPHA:79282
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoi...	ORPHA:100082
Arteriosclerosis, Severe Juvenile	Anemia, Gastric ulcer	OMIM:208060
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Chronic otitis media, Thrombocytopenia	ORPHA:261250
Blau Syndrome	Posterior uveitis, Xerostomia, Keratitis, Abnormality of the liver, Skin rash, Splenomegaly, Syno...	ORPHA:90340
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce...	OMIM:105650
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Hypospadias, Increased mean platelet...	OMIM:616737
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Horseshoe kidney, Pancytopenia, Leukopenia, Phimosis, Acute myeloid ...	OMIM:305000
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly, Skin rash	ORPHA:53715
Pitt-Hopkins Syndrome	Gastroesophageal reflux, Failure to thrive, Supernumerary nipple, Esophagitis, Cryptorchidism, Hi...	ORPHA:2896
H Syndrome	Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis,...	ORPHA:168569
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Thrombocytopenia	OMIM:620072
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Renal hypoplasia/aplasia, Abnormality of the lymphat...	ORPHA:870
Lymphatic Malformation 6	Gastroesophageal reflux, Intestinal lymphangiectasia, Ascites, Splenomegaly, Hydrocele testis	OMIM:616843
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:607143
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Recurrent otitis media, Thrombocytopenia	ORPHA:261323
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Axial malrotation of the kidney, Thrombocytopenia, Abnormality of the kidney	ORPHA:3320
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Chron...	ORPHA:97287
Mowat-Wilson Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Hydrocele testis, Recurrent otiti...	ORPHA:2152
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Erythroid hyperplasia, Abnormal circulating enzyme concentration or acti...	ORPHA:95159
Nijmegen Breakage Syndrome	Recurrent pneumonia, Acute leukemia, Autoimmune hemolytic anemia, Thrombocytopenia, Hemolytic ane...	ORPHA:647
Neuroendocrine Tumor Of Stomach	Chronic noninfectious lymphadenopathy, Zollinger-Ellison syndrome, Atypical pulmonary carcinoid t...	ORPHA:100075
Neuroendocrine Neoplasm Of Appendix	Adenocarcinoma of the colon, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone e...	ORPHA:100079
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hypop...	ORPHA:79329
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia	OMIM:607944
Alström Syndrome	Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste...	ORPHA:64
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s...	OMIM:602668
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, He...	ORPHA:51
Menke-Hennekam Syndrome 2	Duodenal ulcer, Chronic constipation	OMIM:618333
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Leukocytosis, Vesicouretera...	OMIM:274000
Yellow Fever	Acute kidney injury, Anuria, Pancreatic hyperplasia, Elevated circulating aspartate aminotransfer...	ORPHA:99829
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Micropenis, Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Secondary Intestinal Lymphangiectasia	Lymphoma, Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, B-cell ...	ORPHA:90363
Cornelia De Lange Syndrome 1	Pneumonia, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflu...	OMIM:122470
Tarp Syndrome	Failure to thrive, Extramedullary hematopoiesis, Cryptorchidism, Abnormal duodenum morphology, Gl...	ORPHA:2886
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic steatosis, Polycys...	OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic steatosis, Polycys...	OMIM:269700
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Cryptorchidism, Elevated circulating alanine aminotrans...	OMIM:243800
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Dubowitz Syndrome	Eczematoid dermatitis, Hydronephrosis, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acut...	ORPHA:235
Chand Syndrome	Atelectasis	ORPHA:1401
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Thrombocytopenia	ORPHA:572798
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hydronephrosis, Micropenis, Thrombocytopenia, Anemia, Hypospadias	ORPHA:163979
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:612199
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne...	ORPHA:99889
Williams Syndrome	Nausea and vomiting, Cryptorchidism, Polycystic ovaries, Abdominal pain, Rectal prolapse, Chronic...	ORPHA:904
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormal renal cortex morphology, Abnormality of the liver, Thrombocytopenia, Abnormality of the ...	ORPHA:464321
Al Amyloidosis	Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level, Hepatomegaly...	ORPHA:85443
Ileal Neuroendocrine Tumor	Zollinger-Ellison syndrome, Iron deficiency anemia, Lymphadenopathy, Small intestine carcinoid, E...	ORPHA:100078
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati...	OMIM:265380
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Impa...	ORPHA:3132
Spondyloocular Syndrome	Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight	OMIM:605822
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Leukopenia, A...	ORPHA:84
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib...	OMIM:619534
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Abnormality of the lymphatic system, Hydronephrosis, Thrombocytopenia,...	ORPHA:487796
Lassa Fever	Jaundice, Increased circulating IgM level	ORPHA:99824
Trichothiodystrophy 1, Photosensitive	Basal cell carcinoma, Decreased circulating IgG level, Squamous cell carcinoma	OMIM:601675
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Lymphoma, Decreased circulating IgA level, Cryp...	OMIM:223370
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Neuroma, Cervical lymphadenopathy, Pheochromocytoma, Multiple mucosal...	ORPHA:653
Bcard Syndrome	Thrombocytopenia	OMIM:612394
Atelis Syndrome 2	Anemia, Thrombocytopenia	OMIM:620185
Malakoplakia	Neoplasm of the colon, Follicular hyperplasia, Orchitis, Neoplasm of the rectum, Prostate neoplasm	ORPHA:556
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin...	ORPHA:91500
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Deeah Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Thrombocytopenia, Micropenis, Decreased hemoglob...	OMIM:619004
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Thrombocytopenia	OMIM:620423
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Scleromyxedema	Paraproteinemia, Multiple myeloma	ORPHA:167635
Ogden Syndrome	Polycythemia, Eczematoid dermatitis, Recurrent otitis media, Microvesicular hepatic steatosis, Gl...	OMIM:300855
Simpson-Golabi-Behmel Syndrome	Polysplenia, Supernumerary nipple, Increased circulating IgE level, Neoplasm, Cryptorchidism, Nep...	ORPHA:373
Viss Syndrome	Increased circulating IgE level, Exostosis of the external auditory canal, Decreased circulating ...	OMIM:619472
Fibular Hemimelia	Renal dysplasia, Thrombocytopenia	ORPHA:93323
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer, Arthritis	OMIM:161700
Jacobsen Syndrome	Bone marrow hypocellularity, Multicystic kidney dysplasia, Annular pancreas, Eczematoid dermatiti...	ORPHA:2308
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level, Neutrophilia	ORPHA:79139
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hepatic failure, Decreased liver function, Thrombocytopenia	ORPHA:466650
Jacobsen Syndrome	Annular pancreas, Hypospadias, Thrombocytopenia	OMIM:147791
Autosomal Recessive Malignant Osteopetrosis	Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:667
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Roberts Syndrome	Long penis, Polycystic kidney dysplasia, Thrombocytopenia	ORPHA:3103
Fraser Syndrome 1	Abnormal small intestine morphology, Cryptorchidism, Abnormality of the anus, Abnormal thymus mor...	OMIM:219000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Coffin-Siris Syndrome 1	Intestinal malrotation, Cryptorchidism, Feeding difficulties in infancy, High palate, Duodenal ul...	OMIM:135900
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Osteogenesis Imperfecta	Osteoarthritis, Hypercalciuria, Thrombocytopenia, Nephrolithiasis	ORPHA:666
Trichinellosis	Increased circulating IgE level	ORPHA:863
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Parathyroid hypoplasia	ORPHA:2237
African Trypanosomiasis	Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Abnormal prolactin level, Hepatomegaly, Jaundice	ORPHA:3385
Schinzel-Giedion Syndrome	Pulmonary hypoplasia, Recurrent pneumonia, Neural tube defect, Umbilical hernia	ORPHA:798
Noonan Syndrome 1	Synovitis, Hypospadias, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
Alobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Neural tube defect, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Aspiration pneumonia	ORPHA:93924
Semilobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Aspiration pneumonia	ORPHA:220386
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency, Absent gallbladder	ORPHA:500150

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 Rc3h1

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 Rc3h1.

No publications found that use IMPC mice or data for Rc3h1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Rc3h1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Rc3h1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Rc3h1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Rc3h1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Rc3h1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Rc3h1^{tm2a(EUCOMM)Hmgu}	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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