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Gene: Rc3h1 MGI:2685397

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo... OMIM:614420
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Elevated circulating C-reactive prot... OMIM:616050
Immune Thrombocytopenia
Platelet antibody positive, Thrombocytopenia OMIM:188030
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi... OMIM:300635
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Lymphoproliferative disorder, Decreased CD4:CD8 rat... OMIM:615897
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... OMIM:613779
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Recurrent otitis media, Decreased prop... OMIM:615615
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Abnormal natura... OMIM:613101
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas... OMIM:615767
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Decreased circulating antibod... OMIM:618261
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthri... OMIM:619510
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... OMIM:619281
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... OMIM:615513
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Microcytic anemia, Iron deficiency anemia, Protein-losing ent... ORPHA:398063
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci... OMIM:618108
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, B-cell lym... OMIM:619924
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro... ORPHA:567544
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Hyperlipidemia, Vomiting, Protein-losing enteropathy,... OMIM:615863
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... OMIM:614700
Squamous Cell Carcinoma Of The Esophagus
Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal small intestinal villus morphology, Hypoalbuminemia, Hypocalcemia, ... ORPHA:90362
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi... OMIM:614470
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... OMIM:614602
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Chro... OMIM:616433
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Hepatiti... OMIM:304790
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphoma, Hepatosplenomegaly, Decreased proportion of class-switched memo... OMIM:619126
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proporti... OMIM:606367
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br... OMIM:617638
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Mantle Cell Lymphoma
Splenomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder OMIM:242880
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos... ORPHA:103907
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun... ORPHA:98813
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Autoimmunity, Elevated circulating aspartate amino... ORPHA:158061
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive... OMIM:619381
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Liver kidney microsome type 1 antibody positivity... ORPHA:2137
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Increased circulatin... OMIM:209950
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... OMIM:616100
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Pseudomyxoma Peritonei
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Platelet antibody positive, Increased B cell ... OMIM:603909
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Lymphopenia, Pneumonia, Anorexia, Eosinophilia, Diarrhea, Recurrent pne... ORPHA:169160
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Abdominal pain, Malabsor... ORPHA:100025
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... OMIM:153600
Complement Component 4B Deficiency
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... OMIM:614379
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrh... OMIM:269840
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus OMIM:614380
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden... OMIM:240500
5-Oxoprolinase Deficiency
Abdominal pain, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase level, Vomiting OMIM:260005
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Netherton Syndrome
Villous atrophy, Failure to thrive, Recurrent skin infections, Eczema, Allergic rhinitis, Increas... OMIM:256500
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... OMIM:607765
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iro... ORPHA:37042
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Villous atrophy, Osteomy... OMIM:614162
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Protein-losing enteropathy,... OMIM:602579
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... OMIM:236000
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Lymphadeni... OMIM:618935
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Lymphoproliferative disorder, A... ORPHA:276
Atypical Hemolytic Uremic Syndrome
Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:2134
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Proteinuria, Thrombocytopenia OMIM:189800
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Dietary Iron Overload Disease
Viral hepatitis, Hepatic steatosis, Hepatomegaly, Increased circulating ferritin concentration, P... ORPHA:139507
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... OMIM:246700
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... OMIM:613812
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... OMIM:619644
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Malar rash, Systemic lupus erythema... OMIM:301080
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pai... ORPHA:67
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au... ORPHA:99931
X-Linked Agammaglobulinemia
Sinusitis, Glossoptosis, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis media, Recurre... ORPHA:47
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Necrotizing enterocolitis, Hepatomegaly, Elevated circulating creatine kinase ... OMIM:201475
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Anemia ORPHA:169079
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Elevated circulating C-re... OMIM:619573
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Myelodysplasia, Autoimmune thrombocytopenia, Impaired Ig class switc... OMIM:608184
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Abnormality of the ton... ORPHA:229717
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatit... ORPHA:391487
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Lymphadenopathy ORPHA:99976
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive ORPHA:172
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... OMIM:615947
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy ORPHA:86893
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... OMIM:618048
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Elevated cir... OMIM:614576
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir... OMIM:251880
Syndromic Diarrhea
Lymphopenia, Villous atrophy, Hepatomegaly, Gastritis, Hepatoblastoma, Increased mean platelet vo... ORPHA:84064
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated pro... ORPHA:3261
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:42642
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Increased circulating ferritin con... OMIM:618963
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Pyloric steno... ORPHA:381
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Goiter, Breast carcinoma, Abnor... ORPHA:97290
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Failure to thrive, Sinusitis, Decreased propor... ORPHA:83471
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Abdominal pain, Malab... ORPHA:2070
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula... OMIM:616414
Carcinoid Syndrome
Nausea and vomiting, Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Lack o... ORPHA:100093
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Stomatitis, Autoimmunity, Autoimmune thr... OMIM:613011
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... OMIM:615895
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... ORPHA:75564
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le... ORPHA:37748
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Q Fever
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... ORPHA:781
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... ORPHA:536
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... OMIM:557000
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increas... OMIM:616005
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Portal vein t... ORPHA:33402
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... OMIM:617718
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... ORPHA:589
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Vomiting, Hepati... OMIM:614480
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci... OMIM:214950
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Fulminant hepatitis, Jaundice... OMIM:618549
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... ORPHA:562639
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Hepatoportal Sclerosis
Elevated hepatic transaminase, Anticardiolipin IgG antibody positivity, Portal hypertension, Hype... ORPHA:64743
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Cirrhosis,... OMIM:613490
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Intrahepatic cholestasis, In... OMIM:601847
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Hepatic ste... OMIM:608709
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili... ORPHA:139402
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... ORPHA:829
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Eleva... ORPHA:90051
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn... ORPHA:275555
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Autoimmunity, Cholangitis, Portal hypertension, Hypersplenis... ORPHA:228426
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Glomerulonephritis, Anti-acetylch... ORPHA:99867
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Decreased acid sphingomyeli... OMIM:607616
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227990
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia OMIM:602079
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Elevate... ORPHA:131
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Elevated circulating C-re... ORPHA:324964
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay ORPHA:79238
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Follicular thyroid carcinoma, A... ORPHA:319487
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lymphopenia, Autoimmune hemolytic ane... ORPHA:331206
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the ovary, Abnormal lymph ... ORPHA:543
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Diarrhea, Jaundice, Esopha... ORPHA:75234
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Intrahepa... OMIM:235555
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy ORPHA:545
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Failure to thrive, Small for gestational age, Increased mean plate... OMIM:222470
Juvenile Arthritis
Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody... ORPHA:93126
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute colitis, Hyponatremia, ... ORPHA:90038
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain OMIM:118830
Immunodeficiency 56
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Panhypogam... OMIM:615207
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... OMIM:127550
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227982
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia... ORPHA:171
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, C... ORPHA:443811
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pericarditis, Failure to thrive, Fe... OMIM:212065
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Vomiting, Hypergalac... OMIM:230350
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Abdominal distention, Spleno... ORPHA:75233
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Autoimmu... ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... OMIM:618986
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia OMIM:614493
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac... ORPHA:398124
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, Intrahepatic ... OMIM:602347
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi... ORPHA:49041
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Lupus anticoagulant, Nephritis, Lymphadenopathy, Nephrotic syndrome, Microa... ORPHA:93552
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... OMIM:301082
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo... ORPHA:67044
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, C... ORPHA:186
Drug-Induced Lupus Erythematosus
Pericarditis, Antinuclear antibody positivity, Autoimmune antibody positivity, Anemia, Hematuria,... ORPHA:231111
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Abnormal circulating acylcarnitine concentration, Elevated hepatic transam... ORPHA:71212
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M... OMIM:618278
Malaria
Anemia, Acute kidney injury, Thrombocytopenia ORPHA:673
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... ORPHA:3392
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Thyrocerebrorenal Syndrome
Renal insufficiency, Nephritis, Thrombocytopenia ORPHA:3327
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Recurrent skin infections, Splenomegaly, Cleft palate, Decreased circu... OMIM:620210
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... ORPHA:3260
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Autoi... OMIM:617780
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Schimke Immuno-Osseous Dysplasia
Proteinuria, Autoimmunity, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocytop... ORPHA:1830
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... OMIM:620321
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L... ORPHA:3162
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuri... ORPHA:54057
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... OMIM:256810
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi... OMIM:613960
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... ORPHA:26791
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy... ORPHA:88
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Eosinophili... ORPHA:400
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu... OMIM:611762
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, ... ORPHA:53035
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ... ORPHA:182050
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bro... OMIM:242700
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Squamous cell carcinoma, Increased circulating IgG... OMIM:243700
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Granulomatous Slack Skin
Lymphoma, Hodgkin lymphoma, Abnormal lymph node morphology ORPHA:33111
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... ORPHA:91138
Brucellosis
Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Leukopenia, Abnormality of the li... ORPHA:1304
Legionnaires Disease
Nausea and vomiting, Hyponatremia, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea,... ORPHA:549
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... ORPHA:77297
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmunity, Splenomegaly, ... OMIM:615387
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic ... ORPHA:108
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Conjunctivitis, Chronic oral candidiasis, Anemia OMIM:616740
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Tyrosinemia Type 1
Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Autoimmunity, Pneumonia, Autoimmune thrombo... ORPHA:1855
Bone Marrow Failure Syndrome 4
Eczema, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:618116
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Short stature, Postnatal growth retardation, Splenomegaly, Lymph... OMIM:609981
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... OMIM:601457
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti... ORPHA:90060
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Protei... OMIM:614034
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Glycogen Storage Disease Vi
Postnatal growth retardation, Hepatomegaly, Increased hepatic glycogen content, Failure to thrive... OMIM:232700
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Junctional Epidermolysis Bullosa Inversa
Anemia, Gastrointestinal inflammation ORPHA:79405
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... OMIM:232220
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:2584
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Verrucae, Decreased circulating antibody level OMIM:193670
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Gastrostomy tube f... OMIM:613385
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Cholestasis, Ane... ORPHA:292
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... OMIM:598500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Abnormality of the kidney, Impaired ADP-induced platelet aggregation,... OMIM:155100
Prolidase Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Hyperimidodi... OMIM:170100
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic o... ORPHA:169090
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:567548
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, F... OMIM:613489
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia ORPHA:2123
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Increased ... OMIM:615934
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Adrenocor... ORPHA:100083
Melioidosis
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Transaldolase Deficiency
Abnormality of the kidney, Hepatosplenomegaly, Anemia, Cirrhosis, Thrombocytopenia ORPHA:101028
Rhabdoid Tumor
Renal neoplasm, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocytopenia ORPHA:69077
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Abscess, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis,... ORPHA:36234
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile py... ORPHA:449395
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic necrosis, Decreased 3-hydroxy... OMIM:231530
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Immunodeficiency 23
Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eosinophi... OMIM:615816
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh... ORPHA:2930
Late-Onset Junctional Epidermolysis Bullosa
Anemia, Gastrointestinal inflammation ORPHA:79406
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Hepatic fibrosi... OMIM:617341
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Increased circulating IgE level, Br... ORPHA:1163
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pa... ORPHA:1414
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity ORPHA:391
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Short stature ORPHA:417
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ... ORPHA:440713
Lysinuric Protein Intolerance
Leukopenia, Tubulointerstitial nephritis, Renal fibrosis, Decreased glomerular filtration rate, H... ORPHA:470
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hypoparathyroidism, Eosi... ORPHA:199299
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk... ORPHA:98850
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia ORPHA:375
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Abnormality... ORPHA:2552
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... ORPHA:1572
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ... ORPHA:289916
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Phosphoglycerate Dehydrogenase Deficiency
Reduced 3-phosphoglycerate dehydrogenase activity, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Asbestos Intoxication
Ground-glass opacification, Atelectasis, Pleural thickening, Mediastinal lymphadenopathy, Abnorma... ORPHA:2302
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hemolytic-uremic syn... OMIM:614727
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Abd... ORPHA:454836
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612924
Self-Improving Dystrophic Epidermolysis Bullosa
Anemia, Gastrointestinal inflammation ORPHA:79411
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hepatic failure, Hyperammonemia ORPHA:664
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He... ORPHA:210136
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Rheumatoid factor positi... ORPHA:91139
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612926
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev... OMIM:611182
Sandhoff Disease
Splenomegaly, Hepatomegaly, Failure to thrive ORPHA:796
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Hepa... ORPHA:79259
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Lichen Planopilaris
Abnormal intestine morphology, Hepatitis ORPHA:525
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... OMIM:610333
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria ORPHA:33574
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Chronic hepatit... ORPHA:231226
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Ground-g... OMIM:610978
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Abdominal distentio... ORPHA:436252
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidias... ORPHA:275
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia ORPHA:67048
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Anemia, Leukopenia, Pancreatitis, Thrombocy... ORPHA:27
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lympha... OMIM:617591
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Alg6-Cdg
Abnormal circulating enzyme concentration or activity, Jaundice, Decreased LDL cholesterol concen... ORPHA:79320
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Pig... ORPHA:232
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Abdominal distention, Diarrhea, Thrombocytopenia, Elevated circu... OMIM:608104
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Small for gestational age, Atretic ... ORPHA:30391
Mycosis Fungoides
Lymphoma, Neoplasm of the skin, Lymphadenopathy OMIM:254400
Omenn Syndrome
Hepatomegaly, Autoimmunity, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Lym... ORPHA:39041
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Malabsorption, Pylori... ORPHA:379
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... OMIM:300048
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormality ... ORPHA:2035
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... OMIM:617443
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Leigh Syndrome
Failure to thrive, Hepatocellular necrosis OMIM:256000
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... OMIM:615846
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Atelectasis, Hypersensitivity pneumonitis, Leukocyto... ORPHA:2902
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Anorex... OMIM:181000
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... OMIM:619113
Formiminoglutamic Aciduria
Abnormal circulating enzyme concentration or activity, Abnormal concentration of acylcarnitine in... ORPHA:51208
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Good Syndrome
Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe... ORPHA:169105
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase... OMIM:224120
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Diarrhea, Jaundice, Hepati... ORPHA:90062
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuo... OMIM:269920
Letterer-Siwe Disease
Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto... OMIM:246400
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Colonic Atresia
Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s... ORPHA:1198
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration ORPHA:70589
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia OMIM:231000
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Hemangioma, Ascites, Polycythemia ORPHA:284227
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Dysphagia ORPHA:77260
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... OMIM:614376
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Hypocholesterolemia, Acanthocytosis, Increas... ORPHA:71
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Aspiration pneumonia, Tra... ORPHA:70588
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Vomiting, Elevated circulating glutaric acid concentration, Hepatic perip... OMIM:231680
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglob... ORPHA:90041
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Incr... OMIM:210250
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... OMIM:307200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,... OMIM:102700
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Protein avoidance, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acu... OMIM:238970
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Fib... OMIM:619750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Malabsorption, Hypomagnesemia, Diarrhea, Cachexia, Xerostomia, Hamartom... OMIM:175500
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc... OMIM:613404
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... ORPHA:85414
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Abnormality of the kidney, Anticardiolipin IgG antibody pos... ORPHA:464343
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Myeloma, Multiple
Paraproteinemia, Multiple myeloma OMIM:254500
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Neonatal death OMIM:300219
Slc35A1-Cdg
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog... ORPHA:1332
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:913
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Anemia, Gastrointestinal inflammation ORPHA:79409
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... OMIM:257200
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Inflamm... OMIM:232240
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Anemia, Panniculitis, Chronic oral candidiasis, Decreased pr... OMIM:615758
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis OMIM:619693
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Microangiopath... OMIM:274150
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neutropenia, Nephro... OMIM:617056
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout, Anemia ORPHA:510
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:3202
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... ORPHA:2796
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In... OMIM:613839
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Hematuri... ORPHA:91547
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Vomitin... OMIM:277900
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hepatosplenomeg... OMIM:603553
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia ORPHA:75563
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... ORPHA:160
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo... OMIM:610199
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content OMIM:261750
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:614921
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Isovaleric Acidemia
Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... ORPHA:35858
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Increased mean corpuscular... OMIM:617021
Roifman Syndrome
Eosinophilia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Decrease... ORPHA:353298
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... OMIM:240300
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Pseudo-Torch Syndrome 3
Proteinuria, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocytopenia, Anemia OMIM:618886
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Intrahepatic... OMIM:606812
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se... OMIM:602390
Overlap Myositis
Elevated hepatic transaminase, Autoimmunity, Abnormality of the kidney, Antinuclear antibody posi... ORPHA:206572
Nephroblastoma
Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Neoplasm, Nephroblastoma ORPHA:654
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphad... OMIM:260920
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory ... ORPHA:2221
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Positive direct antiglobulin ... ORPHA:71275
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Vomiting, Hepatic fibr... ORPHA:264580
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Intermediate Osteopetrosis
Osteomyelitis, Hepatosplenomegaly, Anemia, Elevated circulating alkaline phosphatase concentratio... ORPHA:210110
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Failure to thrive, Decreased acid cera... OMIM:228000
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcin... ORPHA:217390
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Leukopenia, Chronic otitis media, Aplasia/Hypoplasia of th... ORPHA:33355
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertrigly... OMIM:267700
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... ORPHA:251004
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... ORPHA:209902
Atelis Syndrome 1
Eczema, Bronchiectasis, Anemia, Leukopenia, Thrombocytopenia OMIM:620184
Plague
Glossitis, Chapped lip, Hepatomegaly, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymp... ORPHA:707
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Recurrent pneumonia, High palate, Hepatomegaly OMIM:615637
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... OMIM:153670
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... OMIM:259710
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A... OMIM:607115
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Stuve-Wiedemann Syndrome 2
Eczema, Thrombocytopenia OMIM:619751
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Peptic ulcer, Hypercalcemia, Elevated circulating growth hormone c... OMIM:131100
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema ORPHA:70587
Amyloidosis, Familial Visceral
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly OMIM:105200
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Hepa... ORPHA:319251
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Short stature ORPHA:2204
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Noonan Syndrome 12
Lymphopenia, Atopic dermatitis, Thrombocytopenia OMIM:618624
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Anuria, Proteinuria, Pneumonia, Glomerulonephritis, Leukocytosis, ... ORPHA:340
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Con... ORPHA:99745
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Diarrh... OMIM:619849
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Eleva... OMIM:610377
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Recurrent otitis m... OMIM:617475
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Increased circulating lactate dehydrogenase con... OMIM:185070
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension OMIM:616589
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Hyponatremia, Anorexia, Abdomi... ORPHA:3452
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S... ORPHA:32960
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... ORPHA:158048
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Pa... ORPHA:424019
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Elevated circu... ORPHA:263501
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:100084
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Decreased s... ORPHA:541423
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Abnormality of the ki... ORPHA:90291
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis OMIM:606996
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... OMIM:615710
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... OMIM:606003
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Hemolytic Anemia, Congenital, X-Linked
Dark urine, Hemolytic anemia, Jaundice OMIM:301015
Hemochromatosis, Type 3
Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short stature ORPHA:66518
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Hypoalbuminemia, Protein-losing ente... ORPHA:79327
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Increased circulating IgA level, Bilateral cryptorchidism, Pylori... OMIM:616395
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu... ORPHA:79332
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... ORPHA:514
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Anemia ORPHA:28
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... ORPHA:29207
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Abnormality of thrombocytes, Anemia ORPHA:3204
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Elevated hepatic transaminase, Erythema no... OMIM:613471
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn... OMIM:214500
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, A... OMIM:606054
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Anemia, Gastrointestinal inflammation ORPHA:79410
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive pr... ORPHA:1451
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Anemia, Leu... ORPHA:77259
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen... OMIM:613845
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis... ORPHA:2331
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit... OMIM:251000
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne... OMIM:300908
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Alg9-Cdg
Hepatomegaly, Villous atrophy, Hepatic cysts, Diarrhea, Periportal fibrosis, Hypoplasia of the ov... ORPHA:79328
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Aicardi-Goutieres Syndrome 5
Chilblains, Thrombocytopenia OMIM:612952
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Increase... OMIM:235200
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Macroglossi... OMIM:618440
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Autoimmunity, Keratitis, Splenomegaly,... ORPHA:525731
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Aminoaciduria, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Glycogen Storage Disease Ixc
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ... OMIM:613027
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:613327
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Anemia ORPHA:2668
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis OMIM:145981
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... OMIM:603585
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Micronodular cirrhosis, Bi... OMIM:215600
Orotic Aciduria
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Antinuclear ... ORPHA:50918
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia... ORPHA:520
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... OMIM:301050
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa... ORPHA:809
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphoproliferative disorder, Abnormality of the spleen, Neoplasm by... ORPHA:33276
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi... OMIM:614742
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Leukopenia, Nephr... OMIM:617303
Hereditary Folate Malabsorption
Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Megaloblastic anemia, Cheilitis, ... ORPHA:90045
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:256100
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... OMIM:169400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt... ORPHA:811
Interstitial Lung Disease 2
Alveolar cell carcinoma, Increased circulating antibody level, Cirrhosis OMIM:178500
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Ascites, Gastroesophageal reflux, Hepatomegaly ORPHA:2414
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph... OMIM:259700
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Malignant neoplasm of the... ORPHA:142
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia OMIM:614520
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Tyrosinemia, Type I
Acute hepatic failure, Gastrointestinal hemorrhage, Hepatomegaly, Hypertyrosinemia, Failure to th... OMIM:276700
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Low choleste... OMIM:257220
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Atelectasis, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasi... OMIM:620233
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Elevated circulating C-reactive pr... OMIM:612852
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly OMIM:620296
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Osteochondroma, Generalized lymphadenopathy, B-cell lymphoma, Burkitt lymphoma OMIM:620232
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... ORPHA:33577
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscul... OMIM:185000
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Abdominal distention, Splenomegaly, Pancreatic lymphangie... OMIM:235255
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... OMIM:618372
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pu... OMIM:610921
Cocaine Intoxication
Glomerulonephritis, Elevated circulating creatine kinase concentration, Abdominal pain, Intestina... ORPHA:90068
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Decreased met... OMIM:251110
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Decreas... OMIM:203800
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatiti... ORPHA:449427
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration ... OMIM:615508
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Feeding difficulties in infancy, Splenomegaly, Hyper... OMIM:619046
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Thyroid Lymphoma
Goiter, Lymphoma, Lymphadenopathy ORPHA:97285
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Sp... OMIM:225750
Hurler-Scheie Syndrome
Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:276152
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Low alkaline phosp... OMIM:201100
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... OMIM:301068
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Abdo... ORPHA:342
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Orthostatic Hypotension 2
Anemia, Decreased glomerular filtration rate OMIM:618182
Meige Disease
Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy ORPHA:343
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Eosinophilia, Recurrent respiratory infections, Scoliosis ORPHA:2314
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas... OMIM:251290
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Abdominal pain, Cardiomegaly, Splenomegaly... ORPHA:465508
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased methionine synthase activity, Methylmalonic aciduria, Normochromic anemia, Neutropenia,... OMIM:614857
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abdominal pain, High, narrow palate, Re... ORPHA:79076
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Hyposerinemia, Esophagitis, Feeding difficulties ORPHA:79350
Carney Triad
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Pheo... ORPHA:139411
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... OMIM:611881
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Orchitis, ... ORPHA:449563
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hepatitis ORPHA:584
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f... OMIM:611126
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... ORPHA:79078
Glycogen Storage Disease Ixa1
Growth delay, Hepatomegaly, Splenomegaly OMIM:306000
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126840
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin rash, Megaloblastic anem... OMIM:277380
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th... ORPHA:70591
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leu... OMIM:208900
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Anemia, Congenital Dyserythropoietic, Type Iiia
Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi... OMIM:105600
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Protein avoidance, Hepatitis, Hyp... ORPHA:415
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hydronephrosis, Thro... OMIM:222300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphang... ORPHA:1655
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Anorexia, Malabsorption, Abnormalit... ORPHA:33226
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... OMIM:254900
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... ORPHA:231214
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess... OMIM:612541
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Abetalipoproteinemia
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis OMIM:200100
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosi... OMIM:230600
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Uveitis, Arthritis, Conjunct... ORPHA:575
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Lymp... ORPHA:509
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphoma, Acute leukemia, Lymphadenopathy ORPHA:99812
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Ab... ORPHA:85450
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Persistence of... OMIM:260400
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... OMIM:600740
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... OMIM:614946
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni... OMIM:251100
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... ORPHA:2538
Farber Disease
Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytopenia, Recurrent upper respiratory tra... ORPHA:333
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolytic an... OMIM:235400
Gaucher Disease, Type Ii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Feeding difficulties, Gastroesophageal reflux, Prot... OMIM:230900
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... ORPHA:464329
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia ORPHA:83601
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hyperlipidemia, Episodic abdominal pain, Hepatosplenomegaly, Lact... OMIM:238600
Cog8-Cdg
Elevated hepatic transaminase, Failure to thrive, Protein-losing enteropathy ORPHA:95428
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... ORPHA:228123
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic... OMIM:603903
Holocarboxylase Synthetase Deficiency
Eczema, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia, Perioral eczema ORPHA:79242
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Diamond-Blackfan Anemia 7
Macrocytic anemia, Patent ductus arteriosus, Cleft palate, Increased mean corpuscular volume, Eso... OMIM:612562
Neuraminidase Deficiency
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... OMIM:256550
Zika Virus Disease
Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Conjunctivitis, Infectious encep... ORPHA:448237
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... OMIM:216360
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypo... OMIM:613989
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm... ORPHA:729
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Abnormal T cell m... OMIM:242900
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... ORPHA:355
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Stt3B-Cdg
Micropenis, Thrombocytopenia ORPHA:370924
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... ORPHA:319213
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Lymp... ORPHA:167
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... ORPHA:508542
Relapsing Polychondritis
Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna... ORPHA:728
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, P... OMIM:613177
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Sengers Syndrome
3-Methylglutaconic aciduria, Thrombocytopenia OMIM:212350
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Intestinal malrotation ORPHA:3035
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Protein avoidance, Pancreatitis, Diarrhea, Malnutrition, Thrombocyto... OMIM:222700
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... ORPHA:64744
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Thrombocytopenia OMIM:615597
Immunodeficiency 55
Absent natural killer cells, Myelodysplasia, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Acquired Purpura Fulminans
Hepatic failure, Skin rash, Thrombocytopenia ORPHA:49566
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Right ventricular hypertrophy OMIM:616028
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... OMIM:607625
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... ORPHA:98870
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Hypercalcemia, Testicular neoplasm,... ORPHA:143
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly,... OMIM:619418
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Decreased circulating complement factor B concentration, Increased circulating ... ORPHA:2298
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Ground-glass opacification, Desquamative interstitial pneumonitis, Intraalveola... OMIM:265120
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... ORPHA:447
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Abnormal renal morpho... OMIM:227650
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Ho... OMIM:600901
Fanconi Anemia, Complementation Group F
Pneumonia, Renal hypoplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Microphallus, Vesic... OMIM:603467
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Vomiting, Protein-losing entero... OMIM:619991
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix,... OMIM:263200
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Chronic Mucocutaneous Candidiasis
Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria ORPHA:1334
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Senior-Loken Syndrome 1
Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen... OMIM:266900
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Lym... ORPHA:85408
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia OMIM:112200
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Anemia, Leukopenia, Microphallus, Aspiration pne... OMIM:617053
Dengue Fever
Leukopenia, Skin rash, Thrombocytopenia, Hepatomegaly ORPHA:99828
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Megaloblastic anemia, H... OMIM:277400
Acute Disseminated Encephalomyelitis
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Herpes simplex enc... ORPHA:83597
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Parotitis, Orchitis, Splenomegaly, ... ORPHA:99827
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Feeding difficulties in infancy, Splenomegaly, Primary h... OMIM:239200
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Diarrhe... ORPHA:36412
Plasminogen Deficiency, Type I
Duodenal ulcer, Decreased level of plasminogen, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Abnormal renal corticomedullary differentiation, Thr... OMIM:617397
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... ORPHA:79408
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased c... ORPHA:79330
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra... ORPHA:125
Scrub Typhus
Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Myocarditis, Splenomegaly, Lymp... ORPHA:83317
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypoglycinemia, Megaloblastic anemia, Feeding difficulties, Hyposerinemia, Gastroesophageal reflu... ORPHA:79351
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, ... OMIM:612132
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Intrauterine growth retardation OMIM:618541
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis OMIM:612387
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent pneumonia,... OMIM:604173
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop... OMIM:617052
Poems Syndrome
Lymphoproliferative disorder, Lymphadenopathy, Increased circulating antibody level, Thrombocytos... ORPHA:2905
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Macroglossia, Chronic otitis media, Failure to thrive ORPHA:583
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Endocarditis, Septic art... ORPHA:449280
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Biotinidase Deficiency
Hepatomegaly, Recurrent skin infections, Skin rash, Seborrheic dermatitis, Feeding difficulties i... OMIM:253260
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Decreased iduronate sulfatase level, Intestinal pseudo-obstruction, Splenomegaly, D... OMIM:309900
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Congenital kyphoscoliosis, Repeated pneumothoraces, Ovoid vertebral bodies, Kyphoscoliosis, Atele... ORPHA:536467
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Vomiting, Hepatic fibrosis, Hypoalbuminemi... ORPHA:14
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret... OMIM:227645
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Increased circulatin... ORPHA:99901
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Esophageal stricture, Malnutrition, Abnormal blood ion conc... ORPHA:79404
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia ORPHA:3322
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,... ORPHA:95455
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Hypercalcemia, Testicular neoplasm,... ORPHA:99880
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H... ORPHA:79083
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Pulmonary infiltrates, Lymphadenopat... ORPHA:538
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... OMIM:615512
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Diarrhea, Dysphagia OMIM:252930
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Patent ductus arteriosus, Clef... OMIM:617137
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Atopic dermatitis, Thrombocytopenia ORPHA:3240
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the s... OMIM:620040
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Acute lymphoblastic leukemia, Micropenis, Chronic sinusiti... OMIM:606593
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Hypospadias, Leukopeni... OMIM:301056
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:608779
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... OMIM:259720
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:300842
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Atelectasis, Hypoplastic nipples, Pulmonary hypoplasia, Neonatal death OMIM:269860
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Copper Deficiency, Familial Benign
Anemia, Seborrheic dermatitis OMIM:121270
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy, Feeding difficulties OMIM:618154
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Alg8-Cdg
Elevated hepatic transaminase, Thrombocytopenia, Anemia ORPHA:79325
Thrombocytopenia 1
Eczema, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Esophageal Atresia
Barrett esophagus, Small for gestational age, Intestinal malrotation, Failure to thrive in infanc... ORPHA:1199
Behçet Disease
Myositis, Anorexia, Infectious encephalitis, Acne, Abdominal pain, Retrobulbar optic neuritis, Ly... ORPHA:117
Occipital Horn Syndrome
Gastroparesis, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Gastroesopha... ORPHA:198
Hennekam Syndrome
Malabsorption, Pyloric stenosis, Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating ... ORPHA:2136
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Cholelithiasis... OMIM:263700
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Renal hypophosphatemia, Peptic ulcer, Hypercalcemia, Hypermagnesemia, Episod... ORPHA:405
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ann... OMIM:227646
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Urethral stenosis, Leukopenia, Bone marrow hyp... OMIM:613990
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hem... OMIM:618183
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Caffey Disease
Increased circulating antibody level ORPHA:1310
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Holocarboxylase Synthetase Deficiency
Skin rash, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric ... OMIM:253270
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of neutrophils, Malabsor... ORPHA:1775
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... ORPHA:36426
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Failure to thrive in infancy, Celiac disease, High, narrow palate,... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Celiac disease, High, narrow palate,... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Failure to thrive in infancy, Celiac disease, High, narrow palate,... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Failure to thrive in infancy, Celiac disease, High, narrow palate,... ORPHA:881
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Organic aciduria, Proxi... OMIM:619743
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Recurrent lower respiratory tract infections, Scoliosis, Hyperlordosis ORPHA:258
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Decreased body weight, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Fe... OMIM:618268
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Erythroid hypoplasia,... ORPHA:124
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... ORPHA:46059
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased response to growth ho... OMIM:615577
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... ORPHA:284
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Asci... OMIM:608013
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Maternal Uniparental Disomy Of Chromosome 6
Eczema, Thrombocytopenia ORPHA:96181
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Malt Lymphoma
Mediastinal lymphadenopathy, B-cell lymphoma, Anemia, Lymphadenopathy ORPHA:52417
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Snakebite Envenomation
Acute kidney injury, Thrombocytopenia ORPHA:449285
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, R... OMIM:620005
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Systemic lupus erythemato... ORPHA:77293
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... ORPHA:537
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... ORPHA:565612
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Enlarged tonsi... ORPHA:2785
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Recurrent pneumonia, ... OMIM:251260
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Anemia, Hydronephro... OMIM:611209
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Adenocarcinoma Of The Anal Canal
Anal canal adenocarcinoma, Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung... ORPHA:424016
Primary Hyperoxaluria Type 1
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... ORPHA:93598
Necrotizing Enterocolitis
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia ORPHA:391673
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Thrombocytopenia OMIM:618775
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon ORPHA:163746
Vici Syndrome
Lymphopenia, Decreased circulating IgG2 level, Decreased proportion of CD4-positive helper T cell... OMIM:242840
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Thrombocytopenia ORPHA:77261
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... OMIM:617941
Sarcoidosis
Increased T cell count, Uveitis, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemo... ORPHA:797
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal... ORPHA:79277
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Hepatic steatosis, Thr... OMIM:616271
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Chops Syndrome
Gastroparesis, High, narrow palate, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Obesi... OMIM:616368
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Bowel incontinence, Abnormal stomach morph... ORPHA:512
Scheie Syndrome
Splenomegaly, Rhinitis, Hepatomegaly ORPHA:93474
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Multiple myeloma ORPHA:48377
Pneumocystosis
Neoplasm, Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Nephroti... ORPHA:505248
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Adams-Oliver Syndrome
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Thrombocytopenia ORPHA:974
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Hyperparathyroidism, Death in infancy, Atelectasis, Cryptorchid... ORPHA:534
Recon Progeroid Syndrome
Thrombocytopenia, Keratoconjunctivitis sicca, Anemia OMIM:620370
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre... OMIM:613070
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse, Pulmonar... OMIM:235510
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, Retroperitonea... OMIM:602782
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,... ORPHA:90003
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... ORPHA:96182
Cogan Syndrome
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... ORPHA:1467
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Abnormal mesentery m... ORPHA:3463
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoi... ORPHA:100080
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var... ORPHA:2072
Alg3-Cdg
Neural tube defect, Pulmonary hypoplasia ORPHA:79321
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Periodontitis, Abnormality of the ovary ORPHA:722
Bloom Syndrome
Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Decreased circulating... OMIM:210900
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Atelectasis, Cryptorchidism, Splenomegaly, Abnormal lung lobation, Hypoplasia... ORPHA:567
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Protein... ORPHA:94093
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis, Scoliosis, Hyperlordosis ORPHA:365
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Generalized lymphadenopathy, De... ORPHA:420741
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis, Thrombocytopenia OMIM:610733
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ... OMIM:301072
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthem... ORPHA:99826
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level ORPHA:3409
Localized Scleroderma
Fasciitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagitis, Hashimoto thyroiditis ORPHA:90289
Fanconi Anemia, Complementation Group B
Micropenis, Renal agenesis, Aplastic anemia, Thrombocytopenia OMIM:300514
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ... ORPHA:79282
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Digeorge Syndrome
Parathyroid agenesis, Atelectasis, Thrombocytopenia, Recurrent pneumonia, Splenomegaly, Parathyro... OMIM:188400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Feeding difficulties, Hypokalemia, Gastroesophageal reflu... OMIM:617913
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Neonatal alloimmune thrombocytopenia ORPHA:853
Bernard-Soulier Syndrome
Partially duplicated kidney, Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrom... ORPHA:274
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Anemia OMIM:208060
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Pulmonary capillary hemangiomatosis, Lymphadenopathy ORPHA:199241
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Hydronephrosis, Thrombocy... OMIM:616737
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Gastric ulcer, Decreased circulating antibody level OMIM:604928
Mowat-Wilson Syndrome
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... ORPHA:2152
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... ORPHA:2896
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Thrombocytopenia, Anemia ORPHA:261323
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... ORPHA:90340
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Urethral stenosis, Horseshoe kidney,... OMIM:305000
Thrombocytopenia-Absent Radius Syndrome
Axial malrotation of the kidney, Abnormality of the kidney, Thrombocytopenia, Horseshoe kidney ORPHA:3320
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
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
Familial Tumoral Calcinosis
Splenomegaly, Skin rash, Hepatomegaly ORPHA:53715
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Intestinal lymphangiectasia, Ascites OMIM:616843
Congenital Disorder Of Glycosylation, Type Ig
Cryptorchidism, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circu... OMIM:607143
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent pneumonia, Acute leukemia, Pollakisuria,... ORPHA:647
H Syndrome
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Decreased testicular size, Enlarged kidne... ORPHA:168569
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulating enzyme concentration ... ORPHA:95159
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Autoimmunity, Chilblains, Neonatal alloimmune thrombocyt... ORPHA:51
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, L... OMIM:274000
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... OMIM:105650
9Q33.3Q34.11 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Constipation, Esophagitis, Dysphagia ORPHA:495818
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc... ORPHA:99829
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Alström Syndrome
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Elevated gamma-glu... ORPHA:64
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Ovarian ... ORPHA:100079
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Cornelia De Lange Syndrome 1
Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... OMIM:122470
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Micropenis, Thrombocytopenia, Hepatomegaly OMIM:619005
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Glossoptosis, Abno... ORPHA:2886
Dubowitz Syndrome
Hypospadias, Eczema, Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Hydronephr... ORPHA:235
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, B-cell lymphoma, Chylous ascites, Lymphoma, Decreased circulati... ORPHA:90363
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Elevated g... OMIM:243800
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:612199
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal circulating enzyme concentration or activity, Thrombocytopenia ORPHA:572798
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Anemia, Micropenis, Hydronephrosis, Thrombocytopenia ORPHA:163979
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficiency anemia, Atypical pulmonary c... ORPHA:100075
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... OMIM:608594
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Asplenia, Esophageal atresia, Patent ductus arteriosus, Pulmonary lymphan... OMIM:265380
Williams Syndrome
Elevated circulating creatine kinase concentration, Cardiomegaly, Rectal prolapse, Gastroesophage... ORPHA:904
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Arterial Tortuosity Syndrome
Hiatus hernia, Pyloric stenosis, Myocarditis, Gastroesophageal reflux, Esophagitis, Median cleft ... ORPHA:3342
Chand Syndrome
Atelectasis ORPHA:1401
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal renal cortex morphology, Abnormality of the liver, Abnormality of the kidney, Thrombocyt... ORPHA:464321
Al Amyloidosis
Hepatomegaly, Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level... ORPHA:85443
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo... ORPHA:84
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Abnormality of the lympha... ORPHA:487796
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Decreased circulating IgG level, Squamous cell carcinoma OMIM:601675
Say-Barber-Miller Syndrome
Cryptorchidism, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased... ORPHA:3132
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Neoplasm of the ske... ORPHA:653
Lassa Fever
Increased circulating IgM level, Jaundice ORPHA:99824
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
Dubowitz Syndrome
Aplastic anemia, Cryptorchidism, Lymphoma, Acute lymphoblastic leukemia, Neuroblastoma, Decreased... OMIM:223370
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Gastroesophageal ... OMIM:619534
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Malabsorption, Splenomegaly, Macroglossia, Arthritis, Chronic otiti... ORPHA:93
Cherubism
Submandibular lymph node enlargement OMIM:118400
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Small intestine carcinoid, Extrahepatic cholestasis, Lymphadenopathy ORPHA:100078
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Micropenis, Thrombocytopenia, Exocrine pancreat... OMIM:619004
Ogden Syndrome
Global glomerulosclerosis, Eczema, Microvesicular hepatic steatosis, Jaundice, Iron deficiency an... OMIM:300855
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Nephroblastoma, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circu... ORPHA:373
Scleromyxedema
Paraproteinemia, Multiple myeloma ORPHA:167635
Fibular Hemimelia
Renal dysplasia, Thrombocytopenia ORPHA:93323
Jacobsen Syndrome
Multicystic kidney dysplasia, Eczema, Bone marrow hypocellularity, Annular pancreas, Hydronephros... ORPHA:2308
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Viss Syndrome
Exostosis of the external auditory canal, Increased circulating IgE level, Hypereosinophilia, Dec... OMIM:619472
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Exercise-Induced Malignant Hyperthermia
Oliguria, Decreased liver function, Hepatic failure, Acute kidney injury, Thrombocytopenia ORPHA:466650
Jacobsen Syndrome
Annular pancreas, Hypospadias, Thrombocytopenia OMIM:147791
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Malakoplakia
Orchitis, Prostate neoplasm, Follicular hyperplasia ORPHA:556
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
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
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Roberts Syndrome
Long penis, Polycystic kidney dysplasia, Thrombocytopenia ORPHA:3103
Coffin-Siris Syndrome 1
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchidism, Patent d... OMIM:135900
Fraser Syndrome 1
Abnormal small intestine morphology, Cryptorchidism, Cleft palate, Abnormal thymus morphology, Ab... OMIM:219000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Osteogenesis Imperfecta
Hypercalciuria, Osteoarthritis, Nephrolithiasis, Thrombocytopenia 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
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level ORPHA:3385
Cysticercosis
Increased circulating antibody level ORPHA:1560
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Synovitis OMIM:163950
Schinzel-Giedion Syndrome
Umbilical hernia, Recurrent pneumonia, Pulmonary hypoplasia, Neural tube defect ORPHA:798
Alobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Neural tube defect, Hydrocephalus, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Neural tube defect, Hydrocephalus, Aspiration pneumonia ORPHA:220386
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency 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
Rc3h1tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rc3h1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rc3h1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rc3h1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rc3h1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Rc3h1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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