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Gene: Il2ra MGI:96549

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Gene Summary

Name:
interleukin 2 receptor, alpha chain
Synonyms:
Il2r,  Ly-43,  IL-2R alpha chain,  CD25

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating aspartate transaminase level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.71×10-06
prolonged PR interval Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.61×10-06
enlarged lymph nodes Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased vertical activity Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.22×10-05
abnormal contextual conditioning behavior Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.52×10-05
decreased circulating alkaline phosphatase level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.14×10-15
increased large unstained cell number Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.00×10-09
decreased circulating HDL cholesterol level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.27×10-08
decreased bone mineral density Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.62×10-06
abnormal locomotor behavior Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 9.36×10-05
decreased circulating serum albumin level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.86×10-39
decreased hematocrit Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased exploration in new environment Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 7.57×10-07
decreased mean corpuscular volume Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.10×10-05
decreased circulating calcium level Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 7.24×10-05
decreased mean corpuscular hemoglobin Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased circulating total protein level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.77×10-16
improved glucose tolerance Il2ratm1b(EUCOMM)Wtsi HOM Early adult 6.26×10-10
abnormal duodenum morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal spleen morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal freezing behavior Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.97×10-09
decreased heart weight Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.07×10-06
decreased circulating cholesterol level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.46×10-06
decreased erythrocyte cell number Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin concentration Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased body length Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.57×10-07
decreased circulating glucose level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.69×10-08
abnormal cholesterol homeostasis Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.40×10-06
abnormal vertebrae morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.14×10-08
abnormal colon morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased locomotor activity Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 3.39×10-09
decreased lymphocyte cell number Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.32×10-07
decreased blood urea nitrogen level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.33×10-05
decreased hemoglobin content Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating phosphate level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.16×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

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Gross Pathology and Tissue Collection

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3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Il2ra mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Il2ra by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... OMIM:606367
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Enthesitis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Weight loss, ... ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase... ORPHA:85410

The table below shows human diseases predicted to be associated to Il2ra by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Immunodeficiency 27A
Pneumonia, Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegaly, Leukocytosis, ... OMIM:209950
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi... OMIM:618495
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased c... OMIM:607271
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... ORPHA:169154
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail... OMIM:615767
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa... OMIM:308230
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Recu... OMIM:613101
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... OMIM:300400
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distent... OMIM:616868
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... OMIM:617006
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato... ORPHA:98813
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Failure to thrive in infancy, Leukocytosis, Chronic diarrhea, Panniculitis, Skin rash, ... OMIM:617099
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I... OMIM:619773
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive helper T ce... OMIM:618969
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Neutro... OMIM:618048
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Impaired T... OMIM:240500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Diarrhea, Inflammatory abnormality of the skin, Absence of lymph... ORPHA:277
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia,... OMIM:607594
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Hypoalbuminemia, Jejunitis, Microcytic anemia, Hyp... ORPHA:398063
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Immunodeficiency 48
Pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell co... OMIM:269840
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Oral ulcer, Crohn's disease, Perianal abscess, Enterocoliti... OMIM:613148
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis OMIM:613860
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cel... OMIM:613501
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Pancytopenia, Villous a... OMIM:616050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... OMIM:616100
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Aphthous ulcer, Int... OMIM:266600
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l... ORPHA:100024
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Malabsorption, Skin ra... ORPHA:33355
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ... ORPHA:436159
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti... OMIM:613502
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... OMIM:620449
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... OMIM:606367
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate keratit... OMIM:617388
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... OMIM:619164
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai... OMIM:615592
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Failure to thrive, Eczematoid dermatitis, Increased circulating IgE level, Decreased F... OMIM:304790
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Boutonneuse Fever
Diarrhea, Cervical lymphadenopathy, Leukopenia, Skin rash, Maculopapular exanthema, Nausea, Abdom... ORPHA:83313
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Hyper-Igd Syndrome
Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Inc... OMIM:260920
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hypocalcemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, A... ORPHA:100025
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce... OMIM:617241
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestina... ORPHA:90362
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Panhypogammag... OMIM:602450
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperplasia, Sk... OMIM:615934
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Eczematoid dermatitis, Intestinal lymphangiectasia, Intermittent... OMIM:620632
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh... OMIM:601457
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... OMIM:312863
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Increased circ... OMIM:620565
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Entero... OMIM:612567
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 46
Failure to thrive, Chronic diarrhea, Neutropenia, Chronic oral candidiasis, Anemia, Conjunctiviti... OMIM:616740
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemopha... OMIM:308240
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin... ORPHA:397596
Citrullinemia Type Ii
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Delirium, Restlessness, Mania, Hypopro... ORPHA:247585
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Intestina... OMIM:226300
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... OMIM:616433
Mhc Class Ii Deficiency 1
Cutaneous anergy, Failure to thrive, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia,... OMIM:209920
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hypocalcemia, Cognitive impairment, Hepatomegaly, Jaundice, Reduced bo... ORPHA:172
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal g... ORPHA:2494
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ... OMIM:301000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... OMIM:618213
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Angiostrongyliasis
Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, Nausea, Abdominal pain,... ORPHA:74
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Ventricular septal defect, Arrhythmia, Atrial septal... ORPHA:26793
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte... OMIM:600802
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea... OMIM:615190
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... OMIM:619868
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Hepatic... OMIM:615895
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Parotitis, Hepatitis, Respiratory tract infecti... ORPHA:31202
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 32B
Pneumonia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomeg... OMIM:226990
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Wolman Disease
Hepatic failure, Malnutrition, Ascites, Nausea and vomiting, Splenomegaly, Hepatomegaly, Cachexia... ORPHA:75233
Immunodeficiency 22
Decreased circulating IgG level, Diarrhea, Failure to thrive, Protracted diarrhea, Ascites, Decre... OMIM:615758
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Dengue Fever
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Leukopenia, Lethargy, Thrombocytopenia, Cere... ORPHA:99828
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Splenomegaly, Increased circulating IgA lev... ORPHA:29073
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase... ORPHA:37748
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport... ORPHA:64743
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Mantle Cell Lymphoma
Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia ORPHA:52416
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Failure to thrive, Lymphopenia, Increased circulating IgA level, Abdominal a... OMIM:616395
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Hyperchole... OMIM:612526
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia OMIM:207731
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Osteomyelitis, Recurrent infection of the gastrointestinal... OMIM:608184
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp... OMIM:618963
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Falls, Hypocalcemia, Elevated circulating creatine kinase concentratio... OMIM:615883
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... OMIM:619381
Porphyria, Acute Hepatic
Abdominal colic, Vomiting, Hemolytic anemia, Failure to thrive OMIM:612740
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... OMIM:614878
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Reduced natural killer cell activity, ... ORPHA:540
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Ataxia, Ja... ORPHA:167
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Hypocalcemic tetany, Confusion, Hypocalcemia, Irritability, Prolon... ORPHA:36913
Linear Iga Dermatosis
Inflammation of the large intestine, Oral ulcer ORPHA:46488
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,... OMIM:620603
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytope... ORPHA:572
Atypical Hemolytic Uremic Syndrome
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... ORPHA:2134
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Eosinophilic Gastroenteritis
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Leukocytosis, Anemia, Abnormality of t... ORPHA:2070
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, D... ORPHA:1572
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, ... OMIM:618805
Idiopathic Achalasia
Gastroesophageal reflux, Bronchitis, Malnutrition, Recurrent aspiration pneumonia, Dysphagia ORPHA:930
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Viral hepatitis, Ascites, Splen... ORPHA:2137
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... OMIM:612782
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Desmoplastic Small Round Cell Tumor
Ascites, Ileus, Nausea and vomiting, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnorm... ORPHA:83469
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Apl... OMIM:102700
Johanson-Blizzard Syndrome
Anteriorly placed anus, Exocrine pancreatic insufficiency, Dextrocardia, Abnormal cardiac septum ... ORPHA:2315
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Joint hypermobility, H... OMIM:619013
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... ORPHA:3319
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Ecz... OMIM:242700
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, B lymphocy... OMIM:614069
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Malabsorption, Stomach cancer, Splenomegal... ORPHA:2930
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Failure to thrive... ORPHA:83471
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, H... ORPHA:94089
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain, Diarrhea, Chronic diarrhea OMIM:614102
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ... OMIM:604416
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Aspiration pneumonia, Gastrostomy tube feeding in infancy, Nasogastric tube feeding... ORPHA:141152
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Mental deterioration, Limb ataxia, Gait ataxia, Elevated circulating creatine ki... OMIM:208920
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Chroni... OMIM:615607
Heinz Body Anemias
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia OMIM:140700
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti... ORPHA:26790
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... ORPHA:158061
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Malabsorption, Recurrent infection of the gastrointestinal tract OMIM:137100
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c... OMIM:620210
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia, Ventricular ... OMIM:235255
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Aggressive Systemic Mastocytosis
Diarrhea, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Weight loss, Neutropenia, Anorexia, Le... ORPHA:98850
Gitelman Syndrome
Type II diabetes mellitus, Ventricular fibrillation, Prolonged PR interval, Polydipsia, Glucose i... ORPHA:358
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Cardiomyopathy, Osteomalacia, Diffi... ORPHA:289157
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Arrhythmia, Delirium, Tachycardia, Hyperkalemia, Dysphagia, Hypocalcemia, Brad... ORPHA:94093
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Depression, Hypocholesterolemia, Abnormal erythrocyte morphology, Acant... ORPHA:96180
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Immunodeficiency 23
Allergic rhinitis, Failure to thrive, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, I... OMIM:615816
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Protein-losing enteropathy, Cholestasis, Elevated circulating creatinine concent... OMIM:608104
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pathologic fracture, Osteomyelitis, Pancytopenia, Spleno... OMIM:259700
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA... OMIM:275350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Good Syndrome
Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyt... ORPHA:169105
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Congenital hypothyroidism ORPHA:88643
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic anemia, Anterior uveitis OMIM:616744
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Tachycardia, Fat malabsorption, Hypoproteinemia OMIM:221400
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Abnormality of the liver, Decreased LDL cholesterol ... ORPHA:79320
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Paraproteinemia,... ORPHA:91139
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos... ORPHA:77297
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosple... OMIM:618278
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Hereditary Folate Malabsorption
Cheilitis, Diarrhea, Gastroesophageal reflux, Failure to thrive, Pancytopenia, Nausea and vomitin... ORPHA:90045
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ... OMIM:242860
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ... ORPHA:275
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Difficulty walking, Exocrine pancr... ORPHA:1667
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... OMIM:613021
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo... OMIM:613662
X-Linked Agammaglobulinemia
Hepatitis, Osteomyelitis, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the t... ORPHA:47
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impaired... OMIM:613179
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Babesiosis
Hepatic failure, Leukopenia, Nausea and vomiting, Splenomegaly, Thrombocytopenia, Anorexia, Hepat... ORPHA:108
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Depression, Rickets, Thrombocytosis, Hypocalcemia, Macrocytic anemia, I... OMIM:212750
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia OMIM:193670
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Abnormal leukocyte morphology, Generalized... ORPHA:53
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Reni Syndrome
Hypoalbuminemia, Ataxia, Mental deterioration, Hypoglycemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Aids Wasting Syndrome
Malnutrition, Malabsorption, Cachexia, Weight loss, Anorexia ORPHA:90081
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Villous atrophy, Splenomegaly, Hepatomegaly, Short neck, At... OMIM:608776
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity OMIM:612631
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Congenital Enterovirus Infection
Hypoalbuminemia, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis, A... ORPHA:292
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Abnormal circ... ORPHA:79124
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Hypoca... ORPHA:1655
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Hypomagnesemia,... OMIM:175500
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Tempi Syndrome
Ascites, Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... OMIM:620532
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... OMIM:619752
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... OMIM:300310
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Ataxia, Hepat... ORPHA:14
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Increased ci... ORPHA:319218
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Gastrointestinal dysmotility, Cirrhosis, Sma... ORPHA:298
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Wiskott-Aldrich Syndrome 2
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... OMIM:614493
Autoinflammatory Disease, Systemic, With Vasculitis
Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Abdomina... OMIM:620376
Rhabdoid Tumor
Irritability, Hypertension, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Internal he... ORPHA:69077
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Limitation of joint mobility, Cardiomyopathy, Abnorm... ORPHA:79327
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Inflammatory Pseudotumor Of The Liver
Vomiting, Biliary tract abnormality, Increased hepatitis B virus antibody level, Nausea, Neoplasm... ORPHA:90003
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Bone marrow hypocellularity, Congestive heart failure, Inability to walk, Hypert... OMIM:617303
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Anorexia, Tachycardia, Jaundice, Shock, Eleva... ORPHA:99826
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Spastic Paraplegia And Evans Syndrome
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia OMIM:601608
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Failure to thrive, Abnormal lymphocyte morphology, Malabsorption, Otitis med... ORPHA:229717
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Cutaneous abscess, Failure to thrive, Ecz... OMIM:618131
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis OMIM:211400
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Heme Oxygenase 1 Deficiency
Nephritis, Cervical lymphadenopathy, Hepatomegaly, Coombs-positive hemolytic anemia, Lymphadenopa... OMIM:614034
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... OMIM:615122
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the gastroint... ORPHA:99867
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, My... OMIM:617591
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Harderoporphyria
Increased fecal harderoporphyrin, Vomiting, Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonge... OMIM:618892
Thrombocytopenia 1
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased... OMIM:313900
Gaisböck Syndrome
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... ORPHA:90041
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Asc... ORPHA:186
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal... OMIM:150550
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... OMIM:618523
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Short neck, Cognitive impairment, Osteoporosis OMIM:612462
Igg4-Related Submandibular Gland Disease
Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of ... ORPHA:449432
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Respiratory tr... OMIM:619445
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Hypoproteinemia, Pyloric stenosis OMIM:256300
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... OMIM:614576
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo... ORPHA:79493
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Immunodeficiency 7
Diarrhea, Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune ... OMIM:615387
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Immunodeficiency 65, Susceptibility To Viral Infections
Gingivitis, Stomatitis, Bronchiectasis, Recurrent gastroenteritis OMIM:618648
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Increased circulating creatine kinase MM iso... OMIM:613752
Al Amyloidosis
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... ORPHA:85443
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent... OMIM:615617
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Accumulation of lipid droplets in smal... OMIM:246700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Recurrent skin infections, Decreased circulat... OMIM:617744
Autosomal Agammaglobulinemia
Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, Skin rash, ... ORPHA:33110
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Aicardi-Goutieres Syndrome 7
Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Weig... OMIM:615846
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Gastroesophageal reflux, Decreased cir... ORPHA:89842
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Diarrhea 13
Hypoalbuminemia, Hepatic steatosis, Recurrent hypoglycemia OMIM:620357
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hepatomegaly, Hypoplastic... ORPHA:699
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Leukocytosi... OMIM:259720
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany, Short neck, Subcutaneous ossification, Cognitive impairme... OMIM:103580
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Iron deficiency anemia ORPHA:89937
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Conf... ORPHA:466650
Papa Syndrome
Crohn's disease, Increased inflammatory response, Increased circulating antibody level, Myositis,... ORPHA:69126
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an... OMIM:619313
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... ORPHA:217390
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Hepatosplenomegaly, Pericardial effusion, ... OMIM:619487
Blue Diaper Syndrome
Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia ORPHA:94086
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Congestive heart failure, Abnormal pericardium morphology, Leukocytosis, Intesti... ORPHA:67
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Decreased lymphocyte proliferation i... OMIM:614162
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos... ORPHA:2688
Mevalonic Aciduria
Diarrhea, Vomiting, Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Mo... OMIM:610377
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Cardiomyopathy, Hypocholesterolemia, Villo... OMIM:212065
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Leukocytosis, Anemia... ORPHA:86839
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hypotension, Septic arthritis, Hepatitis, Shock, Elevated circulating creatinine... ORPHA:36234
Hypobetalipoproteinemia, Familial, 1
Ataxia, Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Decreased LDL cholesterol conc... OMIM:615558
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation ORPHA:314652
Gastroesophageal Reflux
Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm OMIM:109350
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Restlessness, Increased fecal coproporphyrin 3, Abnormal f... ORPHA:100924
Coproporphyria, Hereditary
Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... OMIM:121300
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ... ORPHA:2686
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Mitral regurgitation, Short neck, Atrial septal defect, Tachycardia, Inabilit... ORPHA:505248
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ve... OMIM:601005
Steinert Myotonic Dystrophy
Mental deterioration, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia,... ORPHA:273
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Intestinal per... ORPHA:810
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont... OMIM:310300
Cleft Velum
Nasal regurgitation, Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Aspiration pneumoni... ORPHA:99772
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Vomiting, Diarrhea, Failure to thrive, Cachexia, Weight loss, Feeding difficulties OMIM:612075
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia OMIM:616941
Hemorrhagic Fever-Renal Syndrome
Hyperphosphatemia, Tachycardia, Hyperkalemia, Shock, Elevated circulating creatinine concentratio... ORPHA:340
Insulin-Resistance Syndrome Type B
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Biliary cirrhosis,... ORPHA:2298
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Abnormal salivary gland morphology, Increased circulating IgG4 level, Abnormality of ... ORPHA:79078
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Hepatomegaly, ... OMIM:618440
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas... OMIM:618116
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Macronodular cirrhosis, Decreased circulating IgA level, Small for gestational age, Abnormal T ce... OMIM:215250
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Mental deterioration, Platyspondyly, Craniofacial osteosclerosis, Incre... OMIM:618476
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal form of the vertebral bodies, Cardiomyopathy, Sacral dimple, ... ORPHA:175
Solitary Rectal Ulcer Syndrome
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Chronic constipation, Decreased body weigh... ORPHA:209964
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Hyperphosphatemia, Hypocalcemia OMIM:618618
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut... OMIM:618282
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ... ORPHA:90280
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Anorexia, Decreased mean corpuscular volu... OMIM:611590
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Ascites, Ly... ORPHA:93552
Galactose Epimerase Deficiency
Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding difficulties ORPHA:79238
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Folate Malabsorption, Hereditary
Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, F... OMIM:229050
Insulin Autoimmune Syndrome
Weight loss, Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Difficulty walking, Hypocalcemia, Arrhythmia, Hyperkalemia, Highly elevated cr... ORPHA:99845
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid... ORPHA:64744
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Hypocholesterolemia, Splenomegaly, Hepat... OMIM:607765
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Prolidase Deficiency
Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Increased circulatin... OMIM:170100
Generalized Pustular Psoriasis
Hypoalbuminemia, Congestive heart failure, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia,... ORPHA:247353
Congenital Toxoplasmosis
Diarrhea, Ascites, Failure to thrive in infancy, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thr... ORPHA:858
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure ORPHA:46532
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Pseudohypoparathyroidism Type 1A
Depression, Hyperphosphatemia, Ectopic ossification, Hypocalcemic tetany, Confusion, Reduced bone... ORPHA:79443
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr... OMIM:256040
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l... OMIM:616069
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Osteomalacia, Recurr... ORPHA:93160
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti... OMIM:601495
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Pfapa Syndrome
Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden... ORPHA:42642
Syndromic Diarrhea
Hepatic fibrosis, Intractable diarrhea, Small for gestational age, Panhypogammaglobulinemia, Lymp... ORPHA:84064
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Wei... ORPHA:3226
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Wei... ORPHA:54251
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Anem... OMIM:127000
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Jaundice, Atr... OMIM:619573
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Malabsorption, Splenomegaly, Infectious encephali... ORPHA:3452
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Xq28 (MECP2) duplication
Gastroesophageal reflux, Failure to thrive, Decreased circulating IgA level, Feeding difficulties... DECIPHER:45
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Protein-losing enteropathy, Hepatic fibrosis, Villous atrophy, Hepatomegaly, Cir... OMIM:602579
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyp... ORPHA:247598
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... OMIM:145600
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Ectopic ossification, Hypocalcemic tetany, Confusion, Hypocalcemia... ORPHA:79444
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Right ven... ORPHA:90363
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity OMIM:618660
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Anorexia, Hep... ORPHA:391
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Spinal rigidity, Left anterior fascicular block, Dilated cardiomyopathy, Elbow flexion contractur... OMIM:181350
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Sepsis In Premature Infants
Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnormality of the... ORPHA:90051
Galactosemia I
Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Reduced erythrocyte galactose-1-... OMIM:230400
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu... OMIM:300972
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps,... OMIM:174900
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Mental deterioration, Gait ataxia, Thrombocytopenia, Unsteady gait, Dysphagia, N... OMIM:254900
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,... ORPHA:98848
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym... OMIM:617780
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirubinemia, High pa... OMIM:613658
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Dilated cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Abnormal c... ORPHA:367
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hypophosphatasia
Irritability, Anemia, Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:436
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Lactose int... ORPHA:411696
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome... ORPHA:98849
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Hypotension, Hepatitis, Hypoglycemia, Macrocytic ane... ORPHA:199299
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:86893
Shwachman-Diamond Syndrome
Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo... ORPHA:811
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati... OMIM:615952
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Difficulty walking, Hypocalcemia, Sparse bone trabecula... OMIM:264700
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Juvenile Polyposis Syndrome
Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Juvenile colonic... ORPHA:2929
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh... OMIM:251880
Radiation Proctitis
Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa... OMIM:619858
Alg12-Cdg
Hypoalbuminemia, Gastroesophageal reflux, Recurrent hypoglycemia, Intestinal malrotation, Hypocho... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Flexion contracture, Jaundice, Hypoproteinemia OMIM:608093
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
2P21 Microdeletion Syndrome
Hypocalcemia, Hypoglycemia ORPHA:163693
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Neonatal Lupus Erythematosus
Hepatic failure, Aplastic anemia, Pancytopenia, Abnormality of the liver, Malar rash, Splenomegal... ORPHA:398124
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Elevated plasma pyrophosphate, Increased susceptibili... OMIM:241500
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Acute colitis, Leukocytosis, Reticulocytos... ORPHA:90038
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Mpi-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatic fibrosis, Porta... ORPHA:79319
Immunoneurologic Disorder, X-Linked
Small for gestational age, Decreased circulating IgG2 level OMIM:300076
Secondary Short Bowel Syndrome
Diarrhea, Central hypothyroidism, Volvulus, Vomiting, Malnutrition, Villous atrophy, Abnormal sma... ORPHA:95427
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Atrioventricular block, Dilated cardiomyopathy, Kyphosis, Tip-toe gait, Elbow fl... ORPHA:98855
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Hyper... OMIM:212138
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Blepharitis, R... OMIM:617718
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Trichohepatoenteric Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Cognitive impairment, Hepatomegaly, Jaundice, ... OMIM:222470
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Inc... OMIM:256500
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Intestinal obstruction, Spinal canal sten... ORPHA:2323
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Feeding difficulties in infancy... OMIM:618752
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Failure to thrive, Bloody diarrhea, Increased circulating IgE level, Villous atrophy... OMIM:614328
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Gastrointestinal inflammation, Oral mucosal blisters ORPHA:79405
Thrombotic Thrombocytopenic Purpura
Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Abdominal pain ORPHA:54057
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Potocki-Lupski Syndrome
Gastroesophageal reflux, Oral-pharyngeal dysphagia, Hypocholesterolemia, Patent foramen ovale, Hy... OMIM:610883
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholest... ORPHA:64753
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide... ORPHA:70593
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Difficulty walking, Hypocalcemia, Sparse bone trabecula... OMIM:600081
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Trichohepatoenteric Syndrome 2
Diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Cirrhosis, Chronic hepat... OMIM:614602
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha... ORPHA:3162
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Failure to thrive, Feeding difficulties, Weight loss... OMIM:620045
Avian Influenza
Hypoalbuminemia, Hepatitis, Congestive heart failure, Lymphopenia, Leukopenia, Elevated circulati... ORPHA:454836
Hemochromatosis, Type 3
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:604250
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Hyp... ORPHA:2169
Wolman Disease
Vomiting, Failure to thrive, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly OMIM:620151
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface... ORPHA:562639
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Short neck, Spinal rigidity, Tip-toe gait, Hypertrophic ... ORPHA:98863
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Kyphosis, Increased bone mineral density, Hyperuricemia, Hydroxypr... OMIM:239000
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In... ORPHA:93941
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal liver failure in infancy,... ORPHA:275761
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic tetany, Cortical thickening of long bone diaphyses, Decreased sku... ORPHA:93325
Galloway-Mowat Syndrome 6
Hypoalbuminemia, High palate, Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Spinal rigidity, Tip-toe gait, Hypertrophic cardiomyopat... ORPHA:261
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Cognitive impairment, Ataxia, Elevated circulating alpha-f... OMIM:616267
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Spinal rigidity, Tip-toe gait, Hypertrophic cardiomyopat... ORPHA:98853
Wilson Disease
Hypouricemia, Osteomalacia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaund... OMIM:277900
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Decreased liver function, Ascites, Hepatic steatosis, Decreased proportio... OMIM:301045
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly OMIM:619175
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Poor s... ORPHA:2198
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Decreased circulating IgA level... OMIM:613385
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Steatorrhea, Fat malabsorption, Increased... ORPHA:71
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S... ORPHA:47612
Congenital Myopathy 24
Cardiomyopathy, Abnormal circulating creatine kinase concentration, First degree atrioventricular... OMIM:617336
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... ORPHA:48435
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Emphysema, Anorexia, Pleural effus... OMIM:181000
Cholera
Hypovolemic shock, Hypotension, Hypoglycemia, Hypocalcemia, Irritability, Hypokalemia, Hyponatrem... ORPHA:173
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Hypertension, Myocardial infarction ORPHA:54370
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Hyp... ORPHA:746
Colchicine Poisoning
Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Leukocytosis, Hypocalce... ORPHA:31824
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Trimethylaminuria
Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia OMIM:602079
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal ... OMIM:618852
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Hemolytic anemia, S... ORPHA:809
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He... OMIM:278000
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder, Gastroesophageal reflux OMIM:615401
Autosomal Dominant Hypocalcemia
Hypotension, Depression, Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Hypocalcemi... ORPHA:428
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce... ORPHA:331235
Rift Valley Fever
Melena, Hepatitis, Skin rash, Infectious encephalitis, Jaundice, Hematemesis, Thrombocytopenia, A... ORPHA:319251
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Gastroesophageal reflux, Failure to thrive, Oral leukoplakia, De... OMIM:620040
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly, Ataxia, Stea... OMIM:266510
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Gastroesophageal reflux, Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia... ORPHA:542306
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Sickle Cell Anemia
Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Ja... ORPHA:232
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... OMIM:619446
Microlissencephaly
Pneumonia ORPHA:1083
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre... ORPHA:86816
Diffuse Neonatal Hemangiomatosis
Anemia, Hepatomegaly, Hypercalcemia, Thrombocytopenia ORPHA:2123
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit... OMIM:615207
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ... ORPHA:2902
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Ataxia-Telangiectasia
Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia... OMIM:208900
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Thrombocytopenia, Arthritis, Hemolytic anemia... OMIM:152700
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a... ORPHA:906
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Septic arthritis, Brain abscess, Gastrointestinal infarctions, Hemolytic ane... ORPHA:544482
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo... OMIM:307200
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Celi... ORPHA:171
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Feeding difficulties in infancy, Polyhydramnios, Hig... ORPHA:596
Cog7-Cdg
Diarrhea, Failure to thrive, Hepatosplenomegaly, Hepatomegaly, Jaundice, Small for gestational ag... ORPHA:79333
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Gastroesophageal reflux, Inability to walk, Splenomegaly, Hypocalcemia, Hypokalemia, ... OMIM:617913
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Anorexia, Splenomegaly, Hyperammonemia, Hepatomegaly, Lethargy, Pancreatitis, Neu... ORPHA:79312
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypersplenism, H... ORPHA:231226
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Impaired T cell function, Splenomegaly, Hepatomegaly, Poor appetite OMIM:201100
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Short neck, Hypocalcemia ORPHA:1438
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormal circulating protein concentra... ORPHA:103910
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Palpitations, R... ORPHA:324575
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Tetralogy of Fa... ORPHA:3426
Gracile Bone Dysplasia
Ankyloglossia, Hypocalcemia, Decreased skull ossification, Asplenia, Hypoplastic spleen OMIM:602361
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... OMIM:615577
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti... OMIM:603041
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat... ORPHA:88618
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, ... ORPHA:75234
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Scoliosis, Congestive heart failure, Elevated cir... OMIM:611705
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos... OMIM:258900
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Skin rash, Oral ulcer, Kerat... OMIM:617321
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Protein-losing enteropathy, Joint contracture of the hand, Coronal craniosynosto... OMIM:235510
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Omenn Syndrome
Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatom... ORPHA:39041
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529799
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Recurrent pancreatitis, Splenomegaly OMIM:118830
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Polyhydramnios, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficu... OMIM:616809
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia, Bone cyst ORPHA:2668
Rabies
Diarrhea, Nausea and vomiting, Anorexia ORPHA:770
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antib... ORPHA:400
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypersplenism, H... ORPHA:231214
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Failure to thrive, Nausea, Constipa... ORPHA:35122
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased circulating iron concentration, Increased mean corpuscular volume, Increased to... ORPHA:98870
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia, High pa... OMIM:616730
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hypersplenism, Hepatosplenomegaly, ... ORPHA:77259
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... OMIM:618999
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Calvarial osteosclerosis, Cortic... ORPHA:93324
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Diarrhea, Gastrointestinal hemorrhage... ORPHA:33226
Alexander Disease Type I
Cachexia, Vomiting, Dysphagia, Failure to thrive ORPHA:363717
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... ORPHA:829
Kawasaki Disease
Hypoalbuminemia, Vasculitis, Strawberry tongue, Hepatitis, Double outlet right ventricle with sub... ORPHA:2331
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Achalasia, Familial Esophageal
Rheumatoid arthritis, Xerostomia, Achalasia, Keratoconjunctivitis sicca OMIM:200400
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Weight loss, Anorexia, Hepatomegaly, En... ORPHA:781
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties... ORPHA:3260
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Spinal canal stenosis, Calvarial hyperostosis, Epiphyseal stippling, Narrow ve... OMIM:101800
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Vomiting, Failure to thrive, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... ORPHA:449427
Bloom Syndrome
Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-positive T cells, Acut... ORPHA:125
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Diarrhea, Hemolytic anemia OMIM:615399
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Pneumocystosis
Interstitial pneumonitis, Increased circulating antibody level, Weight loss, Acute infectious pne... ORPHA:723
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Hypophosphatemia, Osteoarthr... OMIM:307800
Legionnaires Disease
Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, Splenomegaly,... ORPHA:549
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abnormality of the spleen, Abnorma... ORPHA:79456
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Malnutrition, Polyhydramnios, Recurrent aspiration pneumonia, Intermitte... OMIM:619971
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Hepatic steatosis, Lymphocytosis ORPHA:79087
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Gastric varix, Panacinar emphysema, Bronchiectasis, Hepatocellular carcinoma OMIM:613490
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Hyperlordosis, Scoliosis, Thoracic kyphosis ORPHA:557003
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Follicular hyperplasia, Intestina... ORPHA:160
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Oncogenic Osteomalacia
Abnormal vertebral morphology, Pathologic fracture, Hypocalcemia, Increased susceptibility to fra... ORPHA:352540
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Diarrhea, Inflammatory abnormality of the skin, Hepatitis, Eczematoid derma... ORPHA:391487
Fibronectin Glomerulopathy
Hypoalbuminemia, Hypertension, Cerebral hemorrhage ORPHA:84090
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n... OMIM:611762
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Galactosemia Iii
Vomiting, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypophosphatemia, ... ORPHA:667
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement factor B concentration, Diarrhea, Microangiopathic hemolytic ane... OMIM:235400
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Pneumonia, Periodontitis, Bronchiolitis OMIM:266265
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hyperphosphatemia, Polydipsia, Metacarpal periosteal thickening, Calvarial osteoscler... OMIM:617994
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Hypercalcemia, Polyphagia, Episodic hemolytic anemia, Incr... ORPHA:251004
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Eczematoid dermatitis, Hemolytic anemia, Hepatic failure OMIM:177000
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Tracheomalacia, Persiste... OMIM:612561
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatin... ORPHA:2785
Mogs-Cdg
Decreased circulating IgG level, Nasogastric tube feeding, Decreased circulating IgA level, Hepat... ORPHA:79330
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... OMIM:620152
Cystinosis
Type I diabetes mellitus, Polydipsia, Rickets, Portal hypertension, Hypokalemia, Hypophosphatemia... ORPHA:213
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak... OMIM:619767
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Confusion, Hypocalcemia, Gastritis, Prolonged QT in... ORPHA:31826
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia, Chron... ORPHA:169090
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Celiac disease, Eczematoid dermatitis, Thyroiditis OMIM:618985
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Anal atresia, Hypoproteinemia, Congestive heart failure OMIM:260450
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly ORPHA:75563
Myeloma, Multiple
Paraproteinemia OMIM:254500
Down Syndrome
Atlantoaxial dislocation, Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leuk... ORPHA:870
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia, Butterfly vertebrae, Hypocalcemia, Patent foramen ovale, Lethargy OMIM:607143
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega... OMIM:605309
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Decreased liver function, Hepatic steatosis, Cardiomegaly, Cachexia, Hepatome... ORPHA:42
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Immunodeficiency 59 And Hypoglycemia
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Malabsorptio... OMIM:233600
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Caffey Disease
Feeding difficulties in infancy, Increased circulating antibody level ORPHA:1310
Addison Disease
Normocytic anemia, Thymoma, Type I diabetes mellitus, Hypotension, Hypoglycemia, Thiamine-respons... ORPHA:85138
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Nau... ORPHA:388
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Supraventricular tachycardia, High-... ORPHA:423
Linear Verrucous Nevus Syndrome
Scoliosis, Mental deterioration, Hypophosphatemia, Reduced bone mineral density ORPHA:2611
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Bone marrow hypocellularity, Enterocolitis, Failure to thrive OMIM:301108
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Alveolar Echinococcosis
Biliary cirrhosis, Vomiting, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp... ORPHA:284
Christianson Syndrome
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia ORPHA:85278
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Failure to thrive, Splenomegaly, Macrocytic anemia, Cholecysti... OMIM:615512
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Crimean-Congo Hemorrhagic Fever
Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Anorexia, Neutr... ORPHA:99827
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Seborrh... OMIM:619693
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperli... ORPHA:369
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf... OMIM:606528
Coccidioidomycosis
Pneumonia, Folliculitis, Granuloma, Abnormality of the spleen, Abnormality of the liver, Morbilli... ORPHA:228123
Adult-Onset Nemaline Myopathy
Paraproteinemia, High palate, Neuromuscular dysphagia, Feeding difficulties ORPHA:171442
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Glycogen Storage Disease Ii
Sinus tachycardia, Difficulty walking, Splenomegaly, Elevated circulating creatine kinase concent... OMIM:232300
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the spleen, Abnormali... ORPHA:543
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Squalene Synthase Deficiency
Elbow flexion contracture, Hypocholesterolemia, Knee flexion contracture, Irritability, Bicuspid ... OMIM:618156
Laryngeal Neuroendocrine Tumor
Weight loss, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Follicular Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... ORPHA:545
Lead Poisoning
Abnormality of humoral immunity, Vomiting, Abdominal distention, Imbalanced hemoglobin synthesis,... ORPHA:330015
Kaposi Sarcoma
Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenop... ORPHA:33276
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Recurrent otitis media, Chronic bronchitis, Recurre... OMIM:615482
Graft Versus Host Disease
Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Inflammator... ORPHA:39812
Hyperparathyroidism, Neonatal Severe
Polydipsia, Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia, Recu... OMIM:239200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Splenomega... OMIM:612714
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Oral ulcer, Arth... OMIM:620321
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh... OMIM:601847
Igg4-Related Ophthalmic Disease
Thyroiditis, Keratitis, Palpebral edema, Sialadenitis, Orchitis, Prostatitis, Abnormality of the ... ORPHA:449563
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Failure to thrive, Decreased circulating IgA level, Ileus, Splenomegaly, Hep... OMIM:613327
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Osteopenia, Rickets, Glycosuria, Abnormal hepatic glycogen storage, I... ORPHA:2088
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... ORPHA:221139
Tick-Borne Encephalitis
Myelitis, Vomiting, Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Nausea... ORPHA:297
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphade... ORPHA:31150
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Feeding difficulties OMIM:615085
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Scedosporiosis
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusiti... ORPHA:449280
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca OMIM:270150
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Hypohidrosis, Colitis, Chronic diarrhea, Bronchiectasis OMIM:301220
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ... OMIM:614379
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatr... OMIM:618183
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Niemann-Pick Disease, Type A
Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, He... OMIM:257200
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock, Confusion, Leukopenia, Leukocytosis, Lethargy, Addictive alcohol use, Neutrop... ORPHA:36238
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Constipation, Feeding difficulties OMIM:616801
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume... OMIM:620044
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Neutropenia, Abdominal pain, End... ORPHA:73263
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Ventricular septal defect, Atrial septal de... ORPHA:163979
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Failure to thrive, Malabsorption, Neonatal cholestatic liver disease... ORPHA:79301
Mccune-Albright Syndrome
Bone marrow hypocellularity, Gastroesophageal reflux, Aneurysmal bone cyst, Increased circulating... ORPHA:562
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, Hypercalcemia OMIM:211900
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsorption, Skin ... ORPHA:793
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Hennekam Syndrome
Camptodactyly of finger, Lymphopenia, Splenomegaly, Hypocalcemia, Lymphadenopathy, Pulmonary lymp... ORPHA:2136
Systemic Lupus Erythematosus
Discoid lupus rash, Cheilitis, Leukopenia, Malar rash, Decreased circulating complement C4 concen... ORPHA:536
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Acute hepatic failure, He... OMIM:619644
Orofaciodigital Syndrome Viii
Median cleft upper lip, Recurrent aspiration pneumonia, High palate, Cleft palate OMIM:300484
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly ORPHA:1133
22Q11.2 Deletion Syndrome
Ventricular septal defect, Short neck, Atrial septal defect, Anal atresia, Gastrointestinal hemor... ORPHA:567
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia, Irritability, Microvesicular hepatic steatosis, Hepatomegaly... OMIM:613070
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto... ORPHA:35858
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Hypomethioninemia, Lethargy, Spastic ataxia, Megaloblastic ane... OMIM:277410
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Diarrhea, Periodontitis, Recurrent aphthous stomatitis, Recurrent infection of the gas... ORPHA:486
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Failure to thrive, Splenomegaly, Hepatomegal... OMIM:235555
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ... ORPHA:183675
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Hypoglycemia, Hyperammonemia, Hepati... OMIM:617093
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level OMIM:178500
Zika Virus Disease
Myelitis, Vomiting, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Throm... ORPHA:448237
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperalaninemia, Progressive neurolog... OMIM:618329
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Propionic Acidemia
Hypoglycemia, Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Lethar... OMIM:606054
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Abnormality of the vertebral column OMIM:191420
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... ORPHA:85450
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Peritonitis, Hyper... ORPHA:567548
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Feeding difficulties, Large for gestational age, Thrombocytopenia OMIM:616638
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Conjunctivitis, Ascites, Reduced circulating complement concentration, Nausea and vomit... ORPHA:36412
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ... ORPHA:1876
Moynahan Syndrome
Cachexia ORPHA:2574
Fibrous Dysplasia Of Bone
Rickets, Increased circulating cortisol level, Osteomalacia, Difficulty walking, Cortical irregul... ORPHA:249
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Glycogen Storage Disease Ixb
Hepatomegaly, Diarrhea, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch... OMIM:620211
Lassa Fever
Diarrhea, Nausea and vomiting, Abdominal pain, Conjunctivitis, Jaundice, Increased circulating Ig... ORPHA:99824
Fabry Disease
Mitral regurgitation, Arrhythmia, Achalasia, Cognitive impairment, Anorexia, Depression, Hypertro... ORPHA:324
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... OMIM:179800
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Neutropenia, Schistoc... OMIM:301110
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Difficulty walking, Sparse bone trabeculae, Irritabilit... OMIM:277440
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomega... OMIM:613489
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
American Trypanosomiasis
Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Aganglionic megacolon, Achalasia, Lym... ORPHA:3386
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Decreased circulating ... ORPHA:420741
Infantile Myofibromatosis
Limitation of joint mobility, Neoplasm of the pancreas, Intestinal obstruction, Bone cyst, Abnorm... ORPHA:2591
Paroxysmal Cold Hemoglobinuria
Diarrhea, Coombs-positive hemolytic anemia, Nausea and vomiting, Autoimmune hemolytic anemia ORPHA:90035
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Acute hepatic failure, Malabs... ORPHA:131
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Abno... ORPHA:29207
Neuroendocrine Tumor Of Stomach
Hepatic failure, Lack of bowel sounds, Melena, Protracted diarrhea, Nausea and vomiting, Chronic ... ORPHA:100075
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Lymphopenia, Type II diabetes mellitus, Gait disturbance, Telan... ORPHA:100
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia, ... OMIM:613839
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis, ... OMIM:232800
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Abdominal pain, Colitis, Pu... OMIM:203300
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Secundum atrial septal defect, Tetralogy of Fallot... OMIM:612562
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur... ORPHA:157215
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephalitis, Constipa... ORPHA:99745
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating threonine concent... ORPHA:79096
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circula... OMIM:618838
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis wi... OMIM:211600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Chor... ORPHA:289916
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Minimal change glomerulonephritis, Abdominal distention, Abnormal pr... ORPHA:1830
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Hemolytic anemia OMIM:301015
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Exocr... ORPHA:1333
Acute Adrenal Insufficiency
Normocytic anemia, Hypotension, Hypoglycemia, Hyperuricemia, Hyponatremia, Hypovolemia, Decreased... ORPHA:95409
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia, Irritability, Loss of ambulation, Neutropenia, Progressive neurolog... OMIM:618253
Mirage Syndrome
Gastroesophageal reflux, Scoliosis, Hypoglycemia, Radial club hand, Lymphopenia, Leukopenia, Hypo... OMIM:617053
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Hemochromatosis, Type 1
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:235200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Hepatosplenomegaly, Pancytopenia, Ataxia, Elevated circulating C-reactive protein co... OMIM:615688
Erythermalgia, Primary
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Hyperhidrosis OMIM:133020
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect, Intestinal atresia, Anemia, Duode... ORPHA:3405
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycinemia, Hyperamylasemia, Hepatic steatosis, E... OMIM:619386
Dent Disease 2
Hypophosphatemia, Cognitive impairment, Elevated circulating creatine kinase concentration OMIM:300555
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Difficulty walking, Hypophosphatemic rickets, Sparse bo... OMIM:241530
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Sideroblastic anemia, Arrhythmia, Ataxia, De... OMIM:530000
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Acute hepatic failure, Interstitial pneumonitis, Skin rash, Infectious encephalitis, P... ORPHA:139402
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Broad-based gait, Persistence of hemoglobin F, Limb ataxia, Recurrent ha... OMIM:617101
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Hypoglycemia, Cardiomyopathy, Cholestasis, Splenomegaly, Hepat... ORPHA:264580
Classic Galactosemia
Mental deterioration, Depression, Hypoglycemia, Gait imbalance, Lethargy, Gait disturbance, Abnor... ORPHA:79239
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia, Neutropenia, Ataxia OMIM:616949
Relapsing Fever
Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,... ORPHA:91547
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Blau Syndrome
Posterior uveitis, Xerostomia, Keratitis, Skin rash, Joint swelling, Synovitis, Iridocyclitis, Er... ORPHA:90340
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Peritonitis, Irritability ORPHA:656
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricul... OMIM:619055
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... ORPHA:160148
Brunner Syndrome
Diarrhea OMIM:300615
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Honey... ORPHA:2032
Wilson Disease
Hepatitis, Failure to thrive, Acute hepatic failure, Acute hepatitis, Hepatic steatosis, Splenome... ORPHA:905
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Increased serum bile acid concentration, Cirrhosis, Decreased circulating cerulo... OMIM:242150
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Hepatomegaly, Vent... OMIM:270400
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume... OMIM:127550
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Lymphocytic interstitial pneumonia OMIM:245590
Renpenning Syndrome
High, narrow palate, Cachexia, Anal atresia, Cleft palate ORPHA:3242
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Intermittent diarrhea, Feeding difficulties OMIM:620270
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hepatic steatosis, Hip cont... OMIM:619503
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Weight loss, Kerato... ORPHA:309031
Benign Schwannoma
Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology ORPHA:252164
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Congestive heart failure, Cholestasis, Hyperbi... OMIM:617156
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Classic Mycosis Fungoides
Eczematoid dermatitis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Lymphadenopathy, ... ORPHA:2584
Glucagonoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Depression, Increased circulating cortisol... ORPHA:97280
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea, Failure to thrive OMIM:610370
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... OMIM:619849
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Inc... OMIM:617872
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatic failure, Hep... OMIM:613812
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Hemolytic anemia, Myositis, Hashimoto thyroiditis, Abnormal thym... ORPHA:589
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Abnormal T cell morphology, Autoimmune hemolytic anemia, Hyperactivity... ORPHA:760
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Difficulty walking, Congestive he... ORPHA:98909
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Leptospirosis
Hypotension, Hepatitis, Pulmonary hemorrhage, Hepatomegaly, Arrhythmia, Jaundice, First degree at... ORPHA:509
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia, Constipation, Nasogastric tube feeding in infancy, Feeding di... ORPHA:371364
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Diarrhea, Ascites, Malabsorption,... OMIM:602347
Mcdonough Syndrome
Cachexia ORPHA:2471
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypoglycemia, Hepatic steatosis, Hepatomegaly, Hypop... OMIM:605911
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis OMIM:617092
Cog4-Cdg
Failure to thrive in infancy, Hepatosplenomegaly, Recurrent infection of the gastrointestinal tra... ORPHA:263501
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Lymphopenia, Supravalvular aortic stenosis, Ventricu... OMIM:618624
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Absent uvula, Intestinal atresia, Re... OMIM:619708
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Bone Dysplasia, Lethal Holmgren Type
Diarrhea, Failure to thrive, Nausea and vomiting, Hepatomegaly, Weight loss, Anemia ORPHA:1842
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Abnormal mitral valve morphology, Loss of ambulation, Ataxia, Hepatome... ORPHA:581
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Nasogastric tube feeding in infancy, Dysphagia, Aspiration pneumonia ORPHA:90117
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H... OMIM:248250
Rat-Bite Fever
Diarrhea, Lymphadenitis, Vomiting, Septic arthritis, Parotitis, Morbilliform rash, Abdominal asep... ORPHA:31205
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Failure to thrive, Megaloblastic anemia, Neutropenia, Jaundice, Feeding diffi... OMIM:250940
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hemolytic anemia OMIM:609153
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to... ORPHA:309854
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells, Lymphocyti... ORPHA:133
Neuroendocrine Tumor Of The Rectum
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Hypoactive bowel sound... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Hypoactive bowel sound... ORPHA:100082
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 77
Gastroparesis, Bronchiectasis, Cutaneous abscess OMIM:619223
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Abnorm... ORPHA:1163
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for... OMIM:613217
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hem... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hem... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hem... OMIM:612926
Digeorge Syndrome
High, narrow palate, Bifid uvula, Cholelithiasis, Gastroesophageal reflux, Tetralogy of Fallot, S... OMIM:188400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Craniosynostosis, Smooth tongue, Hypoalbuminemia ORPHA:79396
Poems Syndrome
Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Weight ... ORPHA:2905
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Absent neut... OMIM:617475
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex... OMIM:620005
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Palpebral edema, Wide mouth, Feeding difficulties ORPHA:79350
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Gastroesophageal reflux, Periodontitis, Enlarged platelet dens... OMIM:608233
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Bradykinesia, Hyperglycinemia OMIM:619063
Diarrhea 9
Villous atrophy, Diarrhea, Failure to thrive OMIM:618168
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Failure to thrive, Oral leukoplak... OMIM:613989
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Congestive heart failure, Irrit... ORPHA:3077
Hyperlipoproteinemia, Type Id
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Glycogen Storage Disease Ixa1
Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Panc... OMIM:251110
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Failure to thrive OMIM:614265
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Hypoglycemia, Gait imbalance, Hyperammonemia, ... OMIM:618120
Dracunculiasis
Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Recurrent cutaneous abscess formation ORPHA:231
Acute Promyelocytic Leukemia
Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thro... ORPHA:520
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Abnormal small intestinal mucosa morphology, Nausea, Abdominal distentio... ORPHA:103907
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Lethargy, Cerebellar h... OMIM:251000
Familial Mediterranean Fever
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... OMIM:249100
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Gastrointestinal infarctions, Abnormal circulating cytokine co... ORPHA:464343
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate... ORPHA:97214
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Megaloblastic anemia, Thrombocytopenia, Anorexia ORPHA:49827
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, Iron deficien... OMIM:607906
Atelis Syndrome 1
Carious teeth, Eczematoid dermatitis, Long philtrum, Glue ear, Hypothyroidism, High palate, Bronc... OMIM:620184
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... OMIM:616834
Familial Isolated Hypoparathyroidism
Arrhythmia, Hypocalcemia ORPHA:2238
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S... ORPHA:91500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hem... OMIM:612925
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Caroli Disease
Cholestasis, Cirrhosis, Weight loss, Anorexia, Hepatomegaly, Abdominal pain, Jaundice, Esophageal... ORPHA:53035
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Infantile Sialic Acid Storage Disease
Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Hig... OMIM:269920
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Necrotizing Enterocolitis
Diarrhea, Abdominal distention, Vomiting, Small for gestational age, Hypoactive bowel sounds, Asc... ORPHA:391673
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:614017
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Somatostatinoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Increased circulating cortisol level, Hype... ORPHA:97283
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Feeding difficulties OMIM:610333
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr... OMIM:615518
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Dubowitz Syndrome
Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insufficiency, Hypocholesterolemia, Shor... OMIM:223370
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T... ORPHA:457077
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Glucose intolerance, Joint contracture of the 5th finger, Bradycardia, Tr... OMIM:614407
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, High palate, Recurrent aspiration pneumonia, Impa... ORPHA:98897
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Gait ataxia, Complete atrioventricular canal defect, Self-mutilation, Aggressive b... ORPHA:476126
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia, Cerebral edema OMIM:608033
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Hypothyroidism, Bronchiectasis, Goiter OMIM:617577
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Hellp Syndrome
Vomiting, Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Nausea, Thr... ORPHA:244242
Nijmegen Breakage Syndrome
Anal stenosis, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Recurrent infection of the ... OMIM:251260
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Broad-based gait, Increased HbA2 hemoglobin, Increased bone mineral den... OMIM:616943
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Short Stature, Microcephaly, And Endocrine Dysfunction
Insulin resistance, Broad-based gait, Dilated cardiomyopathy, Abnormal circulating lipid concentr... OMIM:616541
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp... ORPHA:2363
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Weight loss, Constipation ORPHA:85447
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, De... OMIM:618835
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hypercholesterolemia, Increased level of gala... ORPHA:79237
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Cachexia, Gastroesophageal reflux, High palate OMIM:618186
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circu... OMIM:618839
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased circul... ORPHA:470
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Bloom Syndrome
Decreased circulating IgG level, Bronchiectasis, Leukemia, Decreased circulating IgA level, Malar... OMIM:210900
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Large for gestational age, Lactose intolerance, Protuberant abdo... ORPHA:457485
Burning Mouth Syndrome
Abnormality of the gingiva, Strawberry tongue, Xerostomia, Smooth tongue ORPHA:353253
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ... ORPHA:124
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Ileus, Constipation ORPHA:52503
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Difficulty walking, Inability to walk, Hypertrophic cardiomyopathy, Transient ischemi... ORPHA:365
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M... ORPHA:2575
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Gastrointestinal infarctions, Abnormality of the li... ORPHA:91138
Neuroendocrine Tumor Of The Colon
Melena, Lack of bowel sounds, Protracted diarrhea, Hypoactive bowel sounds, Chronic noninfectious... ORPHA:100080
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat... OMIM:601775
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Combined Oxidative Phosphorylation Deficiency 51
Nasogastric tube feeding, Aspiration pneumonia OMIM:619057
Diffuse Alveolar Hemorrhage
Leukocytosis, Decreased circulating complement C4 concentration, Weight loss, Thrombocytopenia, A... ORPHA:90060
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia... OMIM:614868
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Rickets, Glycosuria, Hypoglycemia, Hypophosphatemia, Hepatomegaly, Diabetes mellitus OMIM:616026
Kikuchi-Fujimoto Disease
Vasculitis, Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Enlar... ORPHA:50918
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612650
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Feeding difficulties in infancy, Hepatomegaly, High palate, Decr... OMIM:606056
Nijmegen Breakage Syndrome
Acute leukemia, Anal stenosis, Recurrent pneumonia, Anorectal anomaly, Autoimmune hemolytic anemi... ORPHA:647
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstru... ORPHA:32960
Systemic Capillary Leak Syndrome
Diarrhea, Leukocytosis, Weight loss, Pancreatitis, Myocarditis, Abdominal pain, Pericarditis ORPHA:188
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
B4Galt1-Cdg
Diarrhea, Inflammatory abnormality of the skin, Splenomegaly, Hepatomegaly, Small for gestational... ORPHA:79332
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp... OMIM:612387
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hypermanganesemia With Dystonia 1
Polycythemia, Increased total iron binding capacity, Steppage gait, Hypermanganesemia, Cirrhosis,... OMIM:613280
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:609981
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Antisynthetase Syndrome
Xerostomia, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Abnormal pul... ORPHA:81
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Multiple muscular ventricular septal defects, Eosinophilic infilt... OMIM:615508
Malt Lymphoma
Posterior uveitis, Nausea and vomiting, Constipation, Weight loss, Lymphadenopathy, Anemia, Abdom... ORPHA:52417
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr... ORPHA:79329
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Neutropenia, ... ORPHA:79477
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy ORPHA:50251
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Conical tooth, Absent nipple, Xerostomia, Recurrent respiratory infections, Hypodontia, Hypoplast... OMIM:614941
Kasabach-Merritt Phenomenon
Abdominal distention, Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal ly... ORPHA:2330
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Dementia, Reduced left ventricular ejection fra... OMIM:613697
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Aplastic anemia, Ventricular septal defect, Short neck, Tracheoeso... OMIM:300514
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,... OMIM:302060
Hemochromatosis, Type 2B
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia OMIM:613313
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis, Abetalipoproteinemia, Ataxia OMIM:200100
Vipoma
Intrahepatic cholestasis, Increased circulating cortisol level, Abnormal gastrointestinal motilit... ORPHA:97282
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia... OMIM:260400
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Periostosis OMIM:614441
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Ventricular septal defect, Short neck, Atrial septal defect, Neutrop... OMIM:105650
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia ORPHA:884
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Carious teeth, Periodontitis, Conjunctivitis, Abnormal denta... ORPHA:2908
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Atrioventricular block, Carpal osteolysis, Abnormal form of... ORPHA:371428
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Cinca Syndrome
Leukocytosis, Splenomegaly, Nausea and vomiting, Hepatomegaly, Inflammatory abnormality of the ey... ORPHA:1451
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypouricemia, Intrahepatic cholestasis, Rickets, Glycosuria, Osteomal... OMIM:227810
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Failure to thrive, Chronic mucocutaneous candi... OMIM:242840
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Obesity, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Neurofibroma
Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Neoplasm of the trache... ORPHA:252183
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Juvenile Nephropathic Cystinosis
Hypouricemia, Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic... ORPHA:411634
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets, Hypertension, Glycosuria OMIM:618913
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Keratitis, Failure to thrive, Microcytic anemia, Recurrent otitis media, Leu... ORPHA:99843
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib... OMIM:619534
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Bifid uvula, Broad-based gait, Fixated interests, Emotional lability, Hy... OMIM:620330
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Peptic ulcer, Depression, Osteomalacia, Hypophosphatemia, Pancreatitis, Hypercal... OMIM:600740
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Tetralogy of Fallot, Emotional lability, Submucous cleft hard palat... OMIM:192430
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Failure to thrive, Ulcerative colit... ORPHA:79259
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Decreased response to growt... OMIM:129900
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypo... ORPHA:552
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... OMIM:300751
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia, Hepatomegaly OMIM:618810
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology, Anorexia ORPHA:2023
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly... ORPHA:33577
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis ORPHA:90368
8P11.2 Deletion Syndrome
Splenomegaly, Spherocytosis, High palate, Hemolytic anemia, Feeding difficulties ORPHA:251066
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Splenomegaly, Hypoglycemia, Pyloric stenosis ORPHA:664
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Thymic Neuroendocrine Tumor
Osteopenia, Increased circulating cortisol level, Neoplasm of the thymus, Hypercalcemia, Chronic ... ORPHA:97289
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Familial Mediterranean Fever
Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Ery... ORPHA:342
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res... OMIM:613808
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Conjunctivitis, Hepatic amyloidosis, Cervical ... OMIM:142680
Alg8-Cdg
Diarrhea, Vomiting, Failure to thrive, Ascites, Abnormality of the gastrointestinal tract, Thromb... ORPHA:79325
Acquired Hypertrichosis Lanuginosa
Weight loss, Lymphadenopathy, Macroglossia, Glossitis, Chronic diarrhea, Poor appetite ORPHA:2221
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Hiatus hernia, Ataxia, Camptodactyly, High palate OMIM:251300
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Hypophosphatemia, Motor stereotypy, Self-injurious behavior, Gastroesophageal reflu... ORPHA:534
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Anorexia, Nausea and vomiting, Abdominal pain, Cirrhos... ORPHA:65682
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Pathologic fracture, Hip contracture, Knee flexion contracture, Hypophosphatemia, Hyp... OMIM:156400
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Acute pancrea... ORPHA:178320
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... ORPHA:71272
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Glycosuria, Osteomalacia, Hypophosphatemia, Recurrent fractures OMIM:613388
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Decreased ... OMIM:615474
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Obesity, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest... ORPHA:92050
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis ORPHA:621
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr... OMIM:615237
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Portal hypertension, Splenomegaly, Iron defic... OMIM:616278
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Acute infectious pneumonia... ORPHA:707
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Immunodeficiency 55
Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutr... OMIM:617827
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Biconcave vertebral bodi... OMIM:219090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Difficulty walking, Palpitations, Sinus bradycardia, Loss o... OMIM:616812
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Chronic diarrhea, Cachexia, Steatorrhea, Duodenal ulcer ORPHA:3217
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Leukopenia, Atrial septal defect, Thrombocytopenia, Anemia, Duodenal... OMIM:603467
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Hiatus hernia, Camptodactyly, High palate, Hypertension OMIM:617729
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Lacrimal gland aplasia OMIM:180920
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Malabsorption, Agammaglobulinemia, Aganglionic megacolon, Anemia, Abnormality of the... ORPHA:935
Congenital Factor Xiii Deficiency
Gingival bleeding, Inflammation of the large intestine, Hepatic failure ORPHA:331
Cholestasis-Lymphedema Syndrome
Erysipelas, Malabsorption, Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomeg... OMIM:214900
Autoerythrocyte Sensitization Syndrome
Impaired platelet adhesion, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal erythrocyte... ORPHA:324636
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Diarrhea, Weight loss, Lymphadenopathy ORPHA:411703
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Lysinuric Protein Intolerance
Diarrhea, Vomiting, Hemophagocytosis, Failure to thrive, Malnutrition, Leukopenia, Splenomegaly, ... OMIM:222700
Central Diabetes Insipidus
Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia ORPHA:178029
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Bowel incontinence ORPHA:702
Systemic Lupus Erythematosus 17
Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy... OMIM:301080
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Third degree atrioventricular block, Ataxia ORPHA:480
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Polydipsia, Hyperaldost... ORPHA:369929
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Polydipsia, Glycosuria, Rickets, Hypomagnesemia, E... OMIM:219800
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Anorexia, Sideroblastic anemia, Pancytopenia, Villous atrophy, Hyperbil... OMIM:557000
Schimke Immunoosseous Dysplasia
Platyspondyly, Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transient ische... OMIM:242900
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Ventricular sept... ORPHA:261250
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-reactive ... ORPHA:1930
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly OMIM:231000
Kilquist Syndrome
Gastroesophageal reflux, Xerostomia, Intestinal malrotation, Chronic constipation, Midgut malrota... OMIM:619080
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Failure to thrive, Constipation ORPHA:309162
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Beta-Ketothiolase Deficiency
Ataxia, Hypotension, Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperur... ORPHA:134
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Abscess, Hepatomegaly, Neutrophilia, Elevat... OMIM:612852
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Silver-Russell Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Cachexia, Constipation, Feeding d... ORPHA:813
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal... OMIM:214500
Acquired Methemoglobinemia
Confusion, Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia ORPHA:464453
Neuroblastoma, Susceptibility To, 1
Diarrhea, Failure to thrive, Weight loss, Anemia, Abdominal pain, Abdominal mass OMIM:256700
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Ascites, Nausea and vomiting, Gastrointestinal stroma tumo... ORPHA:139411
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ... OMIM:619377
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis, Increased circulating antibody level ORPHA:48377
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Charge Syndrome
Lymphopenia, Ventricular septal defect, Overriding aorta, Atrial septal defect, Anal atresia, Dys... OMIM:214800
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Failure to thrive, Hilar lymph node enlargement, Cholestasis, ... OMIM:620233
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Failure to thrive, Splenomegaly, Macrocytic anemia OMIM:619046
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Decreased re... OMIM:604292
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Ascites, Skin rash, Abnormal gastric mucosa morphology, Infe... ORPHA:779
Hypophosphatemic Bone Disease
Hypophosphatemia, Rickets, Osteomalacia OMIM:146350
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Rh-Null, Regulator Type
Jaundice, Stomatocytosis, Hemolytic anemia OMIM:268150
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis ORPHA:86884
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... OMIM:606003
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Fanconi Renotubular Syndrome 1
Rickets, Glycosuria, Osteomalacia, Hypokalemia, Hypophosphatemia OMIM:134600
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra... OMIM:300554
Oslam Syndrome
Radioulnar synostosis, Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Xerostomia, Eczematoid dermatitis, Tooth agenesis, Breast aplasia, ... ORPHA:238468
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno... ORPHA:2072
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Feeding difficulties in infanc... ORPHA:1493
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Diarrhea, Cardiomegaly, Splenomegaly OMIM:252920
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... OMIM:617243
Infantile Krabbe Disease
Vomiting, Gastroesophageal reflux, Failure to thrive, Cachexia, Nasogastric tube feeding in infan... ORPHA:206436
Ileal Neuroendocrine Tumor
Hepatic failure, Intestinal fistula, Zollinger-Ellison syndrome, Small intestine carcinoid, Episo... ORPHA:100078
Camurati-Engelmann Disease
Slender build, Leukopenia, Splenomegaly, Hepatomegaly, Feeding difficulties in infancy, Cachexia,... ORPHA:1328
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Polycythemia Vera
Early satiety, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomeg... ORPHA:729
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Pediatric-Onset Graves Disease
Diarrhea, Keratitis, Failure to thrive, Nausea and vomiting, Splenomegaly, Episcleritis, Thromboc... ORPHA:525731
Orofaciodigital Syndrome Ix
Abnormality of the dentition, Recurrent aspiration pneumonia, Median cleft upper lip, High palate... OMIM:258865
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Ascites... OMIM:306400
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess OMIM:610910
Hypercalcemia, Infantile, 1
Lethargy, Hypercalcemia OMIM:143880
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Edema, Recurrent respiratory infections, Tented upper lip vermilion, Cryptorchidism, P... ORPHA:98905
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Sparse bone trabeculae, Hypop... OMIM:300009
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Dysphagia ORPHA:2590
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i... OMIM:613807
Congenital Contractural Arachnodactyly
Congenital contracture, Arthrogryposis multiplex congenita, Congenital kyphoscoliosis, Camptodact... ORPHA:115
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612287
Cartilage-Hair Hypoplasia
Anal stenosis, Hypoplasia of the odontoid process, Lymphopenia, Lumbar hyperlordosis, Limited elb... OMIM:250250
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Rett Syndrome
Cachexia, Gastroesophageal reflux, Constipation OMIM:312750
Pancreatoblastoma
Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Abdominal pain, Wei... ORPHA:677
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis ORPHA:2582
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Neutropenia, Pancreatic fi... OMIM:232220
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, In... OMIM:602080
Xfe Progeroid Syndrome
Hypoalbuminemia, Scoliosis, Hypertension OMIM:610965
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Failure to thrive, Reye syndrome-like episodes, Hepatomegaly, Nausea, Feeding... ORPHA:927
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eosinophilia, C... ORPHA:2314
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Mental deterioration, Hypomethioninemia, Neutropenia, Ataxia, Delirium, Jaundice, Methylmalonic a... ORPHA:79282
Kaufman Oculocerebrofacial Syndrome
Intestinal malrotation, Hypocholesterolemia, Ventricular septal defect, Atrial septal defect, Hig... OMIM:244450
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypomagnesemia, Hypocalcemic tetany, Hyperaldos... ORPHA:73224
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Immunodeficiency 12
Recurrent aphthous stomatitis, Skin rash, Recurrent lower respiratory tract infections, Cheilitis... OMIM:615468
Congenital-Onset Steinert Myotonic Dystrophy
Gastroesophageal reflux, Bundle branch block, Short attention span, First degree atrioventricular... ORPHA:589821
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis OMIM:266120
Netherton Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Malabsorption, Skin rash, Erythroderma, D... ORPHA:634
Medullary Thyroid Carcinoma
Diarrhea, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Dysphagia ORPHA:1332
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Diarrhea, Vomiting, Splenomegaly, Increased body weight, Hepatomegaly, Nausea, ... ORPHA:79240
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures OMIM:612286
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia OMIM:612300
Adiposis Dolorosa
Diarrhea, Xerostomia, Hypothyroidism, Constipation, Arthritis, Recurrent skin infections ORPHA:36397
Porphyria, Congenital Erythropoietic
Cholelithiasis, Conjunctivitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Increased fecal cop... OMIM:263700
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,... ORPHA:77261
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Yellow Nail Syndrome
Biliary tract neoplasm, Recurrent respiratory infections, Lymphedema, Sinusitis, Rhinitis, Pleuri... ORPHA:662
Postorgasmic Illness Syndrome
Xerostomia, Hyperhidrosis ORPHA:279947
Lcat Deficiency
Hemolytic anemia ORPHA:650
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia ORPHA:57
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Hepatomegaly, Abdominal pain, Juvenile rheum... ORPHA:85414
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Malabsorption, ... ORPHA:499009
Takayasu Arteritis
Gastrointestinal infarctions, Increased inflammatory response, Inflammatory abnormality of the ey... ORPHA:3287
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... OMIM:618372
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Short neck, High palate, Flexion contracture ORPHA:98791
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Farber Lipogranulomatosis
Failure to thrive, Splenomegaly, Lipogranulomatosis, Arthritis, Hepatomegaly OMIM:228000
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia OMIM:620443
Hereditary Fructose Intolerance
Hypermagnesemia, Reactive hypoglycemia, Hyperuricemia, Lethargy, Hypophosphatemia, Hepatomegaly, ... ORPHA:469
Feingold Syndrome
Annular pancreas, Abnormal form of the vertebral bodies, Abnormality of the spleen, Esophageal at... ORPHA:1305
Chronic Granulomatous Disease
Pyloric stenosis, Eczematoid dermatitis, Malabsorption, Splenomegaly, Otitis media, Inflammatory ... ORPHA:379
Sarcoidosis
Abnormal lymph node morphology, Weight loss, Erythema nodosum, Hepatomegaly, Tubulointerstitial n... ORPHA:797
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Chronic Hiccup
Weight loss, Malnutrition ORPHA:396
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisoc... ORPHA:79277
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... OMIM:300048
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive, Feeding difficulties ORPHA:217346
Williams Syndrome
Synostosis of joints, Type II diabetes mellitus, Mitral regurgitation, Overfriendliness, Ventricu... ORPHA:904
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Protruding t... OMIM:617062
Muckle-Wells Syndrome
Conjunctivitis, Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, Skin rash, Hepatomegal... ORPHA:575
Porphyria, Acute Intermittent
Diarrhea, Vomiting, Paralytic ileus, Nausea, Constipation, Reduced erythrocyte porphobilinogen de... OMIM:176000
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Lujo Hemorrhagic Fever
Mental deterioration, Hypotension, Shock, Lymphopenia, Leukopenia, Stiff neck, Leukocytosis, Conf... ORPHA:319213
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Erythematous oral mucosa, Furr... OMIM:158310
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Psoriasis 14, Pustular
Furrowed tongue, Leukocytosis, Oligoarthritis, Geographic tongue, Neutrophilia, Elevated circulat... OMIM:614204
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Meconium ileus, Exocrine pancreatic insufficiency, Ileus, Rectal p... OMIM:219700
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Colonic diverticula, Dilated cardiomyopathy, Hepatic fibrosis, Anterior... OMIM:243800
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Keratitis, Vomiting, Aspiration pneumonia, Nasogastric tube feeding, Abn... ORPHA:1018
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Rickets, Extramedullary hematopoiesis, Cholestasis, Hyperbilirubinemia, Hep... ORPHA:79303
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hepatic steatosis, Cardiom... OMIM:201475
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... ORPHA:230
Polyendocrine-Polyneuropathy Syndrome
Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia, Ataxia OMIM:616113
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Second degree atrioventricular block, Hypomagne... ORPHA:79102
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia ORPHA:94059
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Abdominal distention, Ascites, Anorexia, Chronic noninfectious lymphadenopathy, Hepatic... ORPHA:100085
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic... OMIM:617941
Yellow Fever
Diarrhea, Vomiting, Pancreatic hyperplasia, Leukocytosis, Skin rash, Nausea, Abdominal pain, Hema... ORPHA:99829
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Partial atrioventricular canal defect, I... OMIM:620423
Developmental And Epileptic Encephalopathy 50
Diarrhea, Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia OMIM:616457
Dpm1-Cdg
High, narrow palate, Hepatic fibrosis, Diarrhea, Failure to thrive, Hepatosplenomegaly, Hepatic s... ORPHA:79322
Cryptogenic Organizing Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Anorexia, Neutrophilia ORPHA:1302
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Diarrhea, Splenomegaly OMIM:252900
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Acute Radiation Syndrome
Diarrhea, Vomiting, Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, ... ORPHA:454831
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Hypoglycemia, Polysplenia, Exocrine pancreatic insuf... OMIM:619418
Amyotrophic Lateral Sclerosis
Tongue atrophy, Xerostomia, Nausea and vomiting, Cachexia, Dysphagia ORPHA:803
Roifman-Chitayat Syndrome
Pneumonia, Thin lower lip vermilion, Arthritis OMIM:613328
Systemic Sclerosis
Intestinal bleeding, Telangiectasia, Dysphagia, Abnormal large intestine morphology, Gastroesopha... ORPHA:90291
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Glycogen Storage Disease Ic
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Gout, Chronic ... OMIM:232240
Prune Belly Syndrome
Anal atresia, Oligohydramnios, Xerostomia, Cryptorchidism OMIM:100100
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Xerostomia, Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Arthritis... ORPHA:220393
Monosomy 13Q34
Insulin resistance, Hematochezia, Epistaxis, Hepatic steatosis, Common atrium, Hypercalcemia, Pul... ORPHA:96168
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Panniculitis OMIM:618398
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615444
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Pleural effusion, Maculopapular exanthema, Myosit... ORPHA:228119
Trichothiodystrophy 5, Nonphotosensitive
Chronic decreased circulating IgG1, Chronic diarrhea OMIM:300953
Cranioectodermal Dysplasia 1
High, narrow palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, He... OMIM:218330
Fanconi Anemia, Complementation Group W
Duodenal atresia, Polysplenia OMIM:617784
Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:1267
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Obesity ORPHA:3409
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Butterfly vertebrae, Submucous cleft hard palate, Attention d... OMIM:619227
Seckel Syndrome 10
Insulin resistance, Ventricular hypertrophy, Acute pancreatitis, Glycosuria, Congestive heart fai... OMIM:617253
Glycogen Storage Disease Ixc
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ... OMIM:613027
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia, Gastrostomy tube feeding in infancy ORPHA:300605
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
3-Hydroxy-3-Methylglutaric Aciduria
Diarrhea, Anorexia, Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Hepatomegaly, We... ORPHA:20
Complement Component 5 Deficiency
Intractable diarrhea, Reduced circulating CH50 activity, Decreased circulating complement C5 conc... OMIM:609536
Jacobsen Syndrome
Aortic valve stenosis, Bone marrow hypocellularity, Hypoplastic left heart, Annular pancreas, Abn... ORPHA:2308
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis ORPHA:70578
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties OMIM:613638
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Gastroesophageal reflux, Persistence of hemoglobin F, Ventricular septal defect, Hiatus hernia, A... OMIM:619769
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Shortened QT interval, Anorexia, Duodenal ulcer, Thymoma, G... ORPHA:652
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia, Vertebral segmentation defect ORPHA:3004
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Irritability, Kyphoscoliosis, Aggressive behavior, Hyperactivity, Scoliosis, Motor s... ORPHA:391307
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Elevated circulating creatine k... ORPHA:308552
Sneddon Syndrome
Mental deterioration, Lymphopenia, Ischemic stroke, Bicuspid aortic valve, Cerebral hemorrhage, H... OMIM:182410
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... OMIM:263400
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Vomiting, Pancreatitis OMIM:620137
Pierson Syndrome
Retinal hemorrhage, Hypoproteinemia, Hypertension OMIM:609049
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Increased circulating cortisol level, Protracted diarrhea, Bowel urge... ORPHA:97287
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hypertension, Hyperlipidemia, Pulmonary embolism ORPHA:567546
Esophageal Atresia
Abnormal vertebral morphology, Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal re... ORPHA:1199
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss, Bronchiectasis ORPHA:1164
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Gastroesophageal reflux, Failure to thrive, Constipation, Dysphagia, Feeding difficulties ORPHA:35708
Treacher Collins Syndrome 1
Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C... OMIM:154500
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Irritability, ... OMIM:300539
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ... ORPHA:35710
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Irritability, Joint hypermobility, Ventricular septal defect, Gastrointes... OMIM:617798
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Diarrhea, Dysphagia, Splenomegaly OMIM:252930
Malonyl-Coa Decarboxylase Deficiency
Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain OMIM:248360
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Nausea and vomiting, Keratoconjunctivitis, Weight loss, T... ORPHA:79242
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Conjunctivitis, Acute hepatic failure, Nausea and vomiting... ORPHA:36426
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Vomiting, Diarrhea, Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Dysphagia, Re... ORPHA:447
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Maculopapular Cutaneous Mastocytosis
Abdominal pain, Vomiting, Diarrhea, Nausea ORPHA:79457
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Infantile Nephropathic Cystinosis
Polydipsia, Glycosuria, Rickets, Hypokalemia, Hypophosphatemia, Cognitive impairment, Abnormal bl... ORPHA:411629
Neuroblastoma
Weight loss, Lymphadenopathy, Thrombocytopenia, Abdominal distention, Anemia, Chronic diarrhea, A... ORPHA:635
Craniofacioskeletal Syndrome
Absent gallbladder, Hypocalcemia, Ventricular septal defect, Atrial septal defect, Cleft palate OMIM:300712
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis OMIM:619183
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Gastroesophageal reflux, Depression, Volvulus, Joint stiffness, Abnormal... ORPHA:847
Iatrogenic Botulism
Constipation, Xerostomia, Dysphagia ORPHA:254509
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Biotinidase Deficiency
Vomiting, Diarrhea, Splenomegaly, Skin rash, Feeding difficulties in infancy, Seborrheic dermatit... OMIM:253260
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Failure to thrive, Constipation, Hemolytic anemia, Poor appetite ORPHA:18
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Idiopathic Aplastic Anemia
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ... ORPHA:137675
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Interstitial pneumonitis, Splenomegaly OMIM:620296
Infant Botulism
Xerostomia, Keratoconjunctivitis sicca, Constipation, Anorexia, Abdominal pain, Dysphagia, Chroni... ORPHA:178478
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Osteopenia, Gastroesophageal reflux, Restrictive cardiomyopathy, Abnormal he... ORPHA:369837
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Malabsorption, Intestinal obstruction, Keratoconjunctivitis sicc... OMIM:601675
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Prolonged n... OMIM:274150
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis OMIM:619468
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:265380
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... ORPHA:289176
Foodborne Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:228371
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorr... OMIM:276700
Japanese Encephalitis
Diarrhea, Vomiting, Anorexia, Increased circulating antibody level, Infectious encephalitis, Neut... ORPHA:79139
X-Linked Dystonia-Parkinsonism
Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia ORPHA:53351
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Hypocalcemia, Hypocalcemic seizures, Diabetes mellitus, Cleft palate ORPHA:2237
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... OMIM:261740
Enteric Anendocrinosis
Cholestatic liver disease, Vomiting, Diarrhea, Malabsorption, Portal hypertension ORPHA:83620
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Failure to thrive, Decreased carnitine level in liver, Microvesicular hepatic... OMIM:212140
Viss Syndrome
Increased circulating IgE level, Cleft soft palate, Chronic constipation, Abdominal distention, C... OMIM:619472
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Snakebite Envenomation
Neuromuscular dysphagia, Vomiting, Diarrhea, Pseudobulbar paralysis, Thrombocytopenia ORPHA:449285
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level OMIM:618165
Listeriosis
Diarrhea, Arteritis, Abscess, Pustule, Abdominal pain, Jaundice, Endocarditis, Osteomyelitis, Per... ORPHA:533
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Hypoglycemia, Oral-pharyngeal dysphagia, Torsad... OMIM:616878
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:3197
Scrub Typhus
Nausea and vomiting, Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Myocardit... ORPHA:83317
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody ... OMIM:248500
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Median cleft palate, Conotrun... ORPHA:40366
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Failure to thrive, Nasogastric tube feeding ORPHA:289504
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Type I diabetes mellitus, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia OMIM:620365
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hepatic steatosis, Hyp... OMIM:229600
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Decreased testicular size, Cryptorchidism ORPHA:1867
Lynch Syndrome
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Hepatocellular carcino... ORPHA:144
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Villous atrophy, Portal hypertension, Splenome... ORPHA:567983
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Polydipsia, Shortened QT interval, Pancreatic adenocarcinoma, Hypercalcemia, Hypoph... ORPHA:99880
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Increased circulating interfe... ORPHA:542323
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Feeding difficulties, Bloody diarrhea OMIM:615119
Juvenile Neuronal Ceroid Lipofuscinosis
Tube feeding, Dysphagia, Hyperhidrosis, Aspiration pneumonia ORPHA:79264
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Enthesitis, Hepatosplenomegaly, Knee osteoarthritis, Synovitis, Weight loss, ... ORPHA:85408
Grfoma
Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra... ORPHA:97261
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Ppoma
Diarrhea, Nausea and vomiting, Intestinal obstruction, Weight loss, Anorexia, Hepatomegaly, Intra... ORPHA:97278
Gaucher Disease
Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Osteomyelitis, Pancytopenia, Leuk... ORPHA:355
Parathyroid Carcinoma
Peptic ulcer, Polydipsia, Shortened QT interval, Pancreatic adenocarcinoma, Hypercalcemia, Hypoph... ORPHA:143
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Erythroid hyperplasia, Splenomegaly, Scleritis, Keratoconjunctivitis, In... ORPHA:95159
Huntington Disease-Like 2
Weight loss ORPHA:98934
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolac... OMIM:131100
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin... ORPHA:3132
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis OMIM:606763
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Failure to thrive, Ascites, High palate,... OMIM:606812
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Hepatosplen... OMIM:309900
Gaucher Disease, Type Ii
Gastroesophageal reflux, Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Protube... OMIM:230900
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Vomiting, Diarrhea, Failure to thrive, Villous atrophy, High palate OMIM:601110
Peritoneal Cystic Mesothelioma
Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain ORPHA:168816
Glucose/Galactose Malabsorption
Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea OMIM:606824
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Jaundice ORPHA:168577
Cocaine Intoxication
Diffuse alveolar hemorrhage, Vomiting, Gastrointestinal infarctions, Pulmonary edema, Nausea, Abd... ORPHA:90068
Combined Oxidative Phosphorylation Deficiency 25
Long philtrum, Aspiration pneumonia, Chronic constipation, Smooth philtrum, Feeding difficulties OMIM:616430
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia, Rickets OMIM:612089
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Hypophosphatemia, Tooth absces... ORPHA:89936
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... OMIM:301310
Alpha-Mannosidosis, Adult Form
Pneumonia, Macroglossia, Recurrent gastroenteritis ORPHA:309288
Opsismodysplasia
Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Short neck, Hypophosphatemia, S... OMIM:258480
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Imerslund-Grasbeck Syndrome 2
Anemia, Diarrhea, Megaloblastic anemia OMIM:618882
Pmm2-Cdg
Insulin resistance, Hypoalbuminemia, Osteopenia, Hepatic fibrosis, Platyspondyly, Hypertrophic ca... ORPHA:79318
Primary Ciliary Dyskinesia
Atelectasis, Intestinal malrotation, Recurrent otitis media, Pulmonary situs ambiguus, Respirator... ORPHA:244
Congenital Pulmonary Lymphangiectasia
Ascites, Hepatomegaly, Gastroesophageal reflux, Splenomegaly ORPHA:2414
Rapadilino Syndrome
High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate OMIM:266280
Malignant Peritoneal Mesothelioma
Ascites, Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain ORPHA:168811
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Xerostomia, Widely spaced teeth, Enamel hypoplasia, Feeding difficulties OMIM:620193
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Ankle flexion contracture, Gastroesophageal reflux, ... ORPHA:464311
Scleromyxedema
Gastroesophageal reflux, Paraproteinemia, Abnormality of the gastrointestinal tract, Dysphagia, H... ORPHA:167635
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Gastroesophageal reflux, Dental crowding, Downturned corners of mouth, Vomit... ORPHA:96182
Fabry Disease
Diarrhea, Vomiting, Tenesmus, Nausea, Left ventricular hypertrophy, Anemia, Abdominal pain OMIM:301500
Carcinoid Syndrome
Lack of bowel sounds, Protracted diarrhea, Hepatic necrosis, Nausea and vomiting, Chronic noninfe... ORPHA:100093
Dent Disease
Renal hypophosphatemia, Delayed epiphyseal ossification, Rickets, Glycosuria, Osteomalacia, Spars... ORPHA:1652
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, K... OMIM:240300
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Tented upper lip vermilion, Feeding difficulties in in... ORPHA:314655
Spondyloenchondrodysplasia With Immune Dysregulation
Platyspondyly, Rheumatoid arthritis, Lymphopenia, Sclerosis of skull base, Lumbar hyperlordosis, ... OMIM:607944
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Ectodermal Dysplasia And Immunodeficiency 2
Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective pro... OMIM:612132
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Abdominal distention, Hepatitis, Jejunoileal ulceration, Intestinal malrotati... ORPHA:436252
Williams-Beuren Syndrome
Mitral regurgitation, Obsessive-compulsive trait, Ventricular septal defect, Mitral valve prolaps... OMIM:194050
Nephroblastoma
Abdominal pain, Neoplasm of the liver, Weight loss, Lymphadenopathy ORPHA:654
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cor triatriatum, Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Sple... OMIM:612541
Farber Disease
Hepatic fibrosis, Hepatic failure, Failure to thrive, Ascites, Hepatosplenomegaly, Lymphadenopath... ORPHA:333
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia OMIM:145001
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, HbH hemoglobin, Protruding tongue, Ventricular septal defect, Kyphoscoli... OMIM:301040
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Intestinal carcinoid, Abdominal colic, Protracted diarrhea, Hypoacti... ORPHA:100079
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Absence of the sacrum, Abdominal situs inversus, Atrial ... OMIM:270100
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon... OMIM:149730
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting, Skin rash ORPHA:29822
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Raine Syndrome
Protruding tongue, Short neck, Hypophosphatemia, Subperiosteal bone formation, Increased bone min... OMIM:259775
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Xerostomia, Keratoconjunctivitis sicca, Hypohidrosis, Constipation ORPHA:43393
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Decreased circulating C1-esterase inhibitor concentration, Intestinal edema, ... OMIM:106100
Cutaneous Mastocytoma
Vomiting, Diarrhea, Nausea, Abdominal pain, Maculopapular exanthema ORPHA:79455
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Recurrent otitis media, Chronic constipation, Chronic diarrhea, Feeding diffic... OMIM:617788
Eosinophilic Granulomatosis With Polyangiitis
Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Skin rash, Intestinal obstruction, I... ORPHA:183
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity, High palate ORPHA:85293
Fetal Cytomegalovirus Syndrome
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Annular pancreas, V... ORPHA:210122
Peripheral Primitive Neuroectodermal Tumor
Pelvic mass, Ascites, Anorexia, Nausea and vomiting, Episodic abdominal pain, Weight loss, Pancre... ORPHA:370348
Encephalitis Lethargica
Bowel incontinence, Increased circulating antibody level ORPHA:83600
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Intestinal polyposis, Hashimoto thyroiditis, Cachexia, Narro... ORPHA:109
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126840
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis, Hepatocellular c... ORPHA:60
Klatskin Tumor
Abdominal pain, Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahe... ORPHA:99978
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Feingold Syndrome 1
Accessory spleen, Tricuspid stenosis, Annular pancreas, Polysplenia, Jejunal atresia, Ventricular... OMIM:164280
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Increased circulating cortisol level, Es... ORPHA:913
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Inability to walk,... OMIM:620066
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Generalized Pseudohypoaldosteronism Type 1
Atopic dermatitis, Cholelithiasis, Vomiting, Recurrent tonsillitis, Failure to thrive in infancy,... ORPHA:171876
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula... ORPHA:231625
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Ascites, Anorexia, Chronic noninfectious lymphadenopathy, Cholecystitis, ... ORPHA:100086
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bifid uvula, Recurrent pneumonia, Recurrent aspiration pneumonia, Bilateral cryptorchidism, Chron... OMIM:300472
Mosaic Variegated Aneuploidy Syndrome 1
Short neck, Atrial septal defect, Leukemia, Cleft palate, Duodenal atresia, Pulmonic stenosis OMIM:257300
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Weight loss, Dysphagia, Lymphadenopathy ORPHA:142
Combined Oxidative Phosphorylation Deficiency 15
Ataxia, Shortened PR interval, Ventricular septal defect, Ventricular septal hypertrophy, Cogniti... OMIM:614947
Distal Deletion 12Q
High, narrow palate, Microglossia, Congenital hypertrophy of left ventricle, Maturity-onset diabe... ORPHA:96149
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Apparent Mineralocorticoid Excess
Polydipsia, Abnormality of circulating cortisol level, Decreased circulating renin level, Hypokal... ORPHA:320
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Fg Syndrome Type 1
Broad-based gait, Abnormal large intestine morphology, Gastroesophageal reflux, Limited elbow ext... ORPHA:93932
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Kyphosis, Multiple joint co... ORPHA:464306
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Nausea, Diarrhea, Dysphagia, Poor appetite ORPHA:352447
Multiple Endocrine Neoplasia Type 2
Hypertensive crisis, Abnormal tongue morphology, Cervical lymphadenopathy, Ganglioneuromatosis, P... ORPHA:653
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Palmar telangiectasia, Cholestasis, Lymphopenia, ... OMIM:613471
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Splenomegaly, Cardiomegaly, Chronic hepatic failure, Cirrhosis, Weight loss,... ORPHA:465508
Spinal Cord Injury
Paralytic ileus, Vertebral compression fracture, Hypercalcemia ORPHA:90058
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Fryns Syndrome
Joint contracture of the hand, Meckel diverticulum, Polysplenia, Intestinal malrotation, Ventricu... OMIM:229850
Nocardiosis
Pneumonia, Vomiting, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, Pleur... ORPHA:31204
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Vomiting, Diarrhea, Failure to thrive OMIM:560000
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Conjunctivitis, Acute hepatic failure, Malabsorption, Nausea and vom... ORPHA:537
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Osteolysis, Stomach cancer, Intestinal polyposis, Subvalvular aortic stenos... ORPHA:1052
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties ORPHA:79101
Localized Scleroderma
Abnormality of the dentition, Gastroesophageal reflux, Dental malocclusion, Fasciitis, Abnormal u... ORPHA:90289
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Platyspondyly, Thoracolumbar kyphosis, Lymphopenia, Hepatic cysts, Kyphoscoliosis, Eosinophilia, ... OMIM:617425
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Bloody diarrhea, Rectal prolaps... OMIM:175200
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, Obsessive-compulsive trait, First degree atrioventricular block, ... OMIM:160900
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Feeding difficulties in infancy, Vomiting, Failure to thrive OMIM:264350
Aa Amyloidosis
Vomiting, Malnutrition, Cholestasis, Malabsorption, Nausea, Hepatomegaly, Abdominal pain, Chronic... ORPHA:85445
Fryns Syndrome
Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Aganglionic megacolon, Ecto... ORPHA:2059
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy ORPHA:99868
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126850
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Gastrointestinal infarctions, Nausea and vomiting... ORPHA:727
Geleophysic Dysplasia 3
Pneumonia, Polyhydramnios, Long philtrum, Thick vermilion border OMIM:617809
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Osteomalac... ORPHA:3337
Stromme Syndrome
Accessory spleen, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Cleft palate OMIM:243605
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis ORPHA:71493
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Acute Liver Failure
Gastrointestinal hemorrhage, Hypotension, Depression, Hepatitis, Hypoglycemia, Hepatocellular nec... ORPHA:90062
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Multiple Endocrine Neoplasia Type 4
Thymoma, Peptic ulcer, Increased circulating cortisol level, Fasting hyperinsulinemia, Insulinoma... ORPHA:276152
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leuk... ORPHA:508542
Panbronchiolitis, Diffuse
Bronchiectasis OMIM:604809
Cockayne Syndrome
Gastroesophageal reflux, Malar rash, Splenomegaly, Gastrostomy tube feeding in infancy, Feeding d... ORPHA:191
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Gm1 Gangliosidosis
Gastroesophageal reflux, Long philtrum, Aspiration pneumonia, Gingival overgrowth, Narrow mouth, ... ORPHA:354
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Peptic ulcer, Pancreatitis, Hypercalcemia OMIM:145981
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Lyme Disease
Arrhythmia, Memory impairment, Arthritis, Atrioventricular block ORPHA:91546
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Aspiration pneumonia ORPHA:216866
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Intesti... ORPHA:1666
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Polydipsia, Palpitations, Decreased circulating renin level, Hypokalemia, Hypertension... ORPHA:231580
Glutaric Aciduria Iii
Diarrhea, Vomiting, Failure to thrive OMIM:231690
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... OMIM:257220
Cushing Disease
Depression, Memory impairment, Increased circulating cortisol level, Lymphopenia, Paradoxical inc... ORPHA:96253
Meier-Gorlin Syndrome 7
Anal stenosis, Second degree atrioventricular block, Anteriorly placed anus, Duodenal stenosis, C... OMIM:617063
Spondyloocular Syndrome
Platyspondyly, Osteopenia, Vertebral compression fracture, Mitral valve prolapse, Femur fracture,... OMIM:605822
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Microform Holoprosencephaly
Tetralogy of Fallot, Maternal diabetes, Scoliosis, Duodenal atresia, Cleft palate ORPHA:280200
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Vomiting, Diarrhea, Large for gestational age, Pancreatic islet-cell hyperplasia, Increased hepat... ORPHA:263455
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Osteomalacia, Pancreatitis, Hypocalcemic s... ORPHA:405
Focal Dermal Hypoplasia
Gastroesophageal reflux, Coarse metaphyseal trabecularization, Camptodactyly of finger, Ventricul... ORPHA:2092
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230800
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Abnormality of the dentition, Xerostomia, Oral leukoplakia, Eczematoid dermati... ORPHA:2907
Trisomy 18
Cachexia, Anal atresia, Esophageal atresia, Narrow palate, Cleft palate ORPHA:3380
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Arrhythmia, Ataxia, Hepatomegaly, Arthrog... ORPHA:163746
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Aspirat... OMIM:616368
Spondyloenchondrodysplasia
Pneumonia, Dental malocclusion, Delayed eruption of teeth, Hepatitis, Decreased response to growt... ORPHA:1855
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Erythroderma Desquamativum
Seborrheic dermatitis, Diarrhea, Failure to thrive ORPHA:314
Erythrokeratodermia Variabilis
Weight loss, Skin rash ORPHA:317
Isaacs Syndrome
Weight loss ORPHA:84142
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Isolated Biliary Atresia
Periportal fibrosis, Small for gestational age, Failure to thrive, Decreased liver function, Chol... ORPHA:30391
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate OMIM:300215
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Joint stiffne... ORPHA:56
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in i... OMIM:617137
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Failure to thrive, Feeding difficulties OMIM:177735
Monosomy 18Q
Slender build, Decreased circulating IgA level, Failure to thrive, High palate ORPHA:1600
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Cornelia De Lange Syndrome 1
High, narrow palate, Pneumonia, Gastroesophageal reflux, Downturned corners of mouth, Cleft upper... OMIM:122470
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Adrenocorticotropin deficient ... ORPHA:293978
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Vomiting, Impaired T cell function, Allergic conjunctivitis, Small for gestati... OMIM:176690
Bardet-Biedl Syndrome
Inflammation of the large intestine, Dental crowding, Long philtrum, Decreased testicular size, C... ORPHA:110
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Sotos Syndrome
Abnormal vertebral morphology, Hip contracture, Ventricular septal defect, Atrial septal defect, ... ORPHA:821
Wild Type Attr Amyloidosis
Intermittent diarrhea, Gastrointestinal dysmotility, Weight loss, Hepatomegaly, Chronic diarrhea,... ORPHA:330001
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Vomiting, Diarrhea, Pancytopenia, Skin rash, Left ventricular hypertrophy, Episodic vomiting OMIM:618321
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension OMIM:613677
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Gastroesophageal reflux, Feeding difficulties, Gastrostomy tube f... ORPHA:79243
Methanol Poisoning
Abdominal pain, Vomiting, Diarrhea ORPHA:31825
Schwartz-Jampel Syndrome
Decreased body weight, Feeding difficulties in infancy, Cachexia, High palate, Cleft palate ORPHA:800
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Polymyositis
Gastrointestinal hemorrhage, Gastroesophageal reflux, Constipation, Weight loss, Arthritis, Anore... ORPHA:732
Icf Syndrome
Lymphopenia, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils ORPHA:2268
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Ramos-Arroyo Syndrome
Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Keratitis, Narrow mouth, Chronic constip... ORPHA:1051
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Increased circulating cortisol level, Abnormal lymph nod... ORPHA:99889
Meige Disease
Recurrent bacterial skin infections, Lymph node hypoplasia, Recurrent skin infections, Absence of... ORPHA:90186
Dyskeratosis Congenita
Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Oral leukoplakia, Anore... ORPHA:1775
Cystic Fibrosis
Bronchiectasis, Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insufficiency, Malab... ORPHA:586
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, Ch... OMIM:116920
Malakoplakia
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Neoplasm of the col... ORPHA:556
Behçet Disease
Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Endocarditis, Gastrointestinal hemorr... ORPHA:117
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Hypertension, Decreased circulating renin level OMIM:103900
Congenital Myopathy 20
High palate, Chronic diarrhea, Failure to thrive OMIM:620310
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Cockayne Syndrome Type 1
Diarrhea, Failure to thrive, Hepatomegaly, Anemia, Conjunctivitis, Uveitis ORPHA:90321
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Anemia, Hepatomegaly, Diarrhea, Episodic vomiting OMIM:246450
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronis... OMIM:601678
Metachromatic Leukodystrophy
Addictive behavior, Tip-toe gait, Abnormal stomach morphology, Emotional lability, Gait disturban... ORPHA:512
Cog8-Cdg
Protein-losing enteropathy, Hypoglycemia, Ataxia ORPHA:95428
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Gastroesophageal reflux, Third degree atrioventricular block, Bradycardia OMIM:619814
Hennekam-Beemer Syndrome
Pneumonia, Vomiting, Thick lower lip vermilion, Abdominal pain, High palate ORPHA:2135
Sandhoff Disease
Hepatosplenomegaly, Cardiomegaly, Episodic abdominal pain, Hepatomegaly, Macroglossia, Chronic di... OMIM:268800
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defec... OMIM:614114
Mercury Poisoning
Interstitial pneumonitis, Episodic abdominal pain, Episodic vomiting, Anorexia, Nausea ORPHA:330021
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Turcot Syndrome With Polyposis
Hematochezia, Diarrhea, Vomiting, Adenomatous colonic polyposis, Intestinal polyposis, Nausea, He... ORPHA:99818
Apparent Mineralocorticoid Excess
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:218030
Agel Amyloidosis
Xerostomia, Blepharochalasis, Respiratory tract infection, Keratoconjunctivitis sicca, Tongue atr... ORPHA:85448
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the colon, Malabsorption, Nau... ORPHA:440437
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Prader-Willi Syndrome
Small pituitary gland, Abnormality of the dentition, Vomiting, Periodontitis, Xerostomia, Downtur... ORPHA:739
Kabuki Syndrome 1
Recurrent aspiration pneumonia, Anal stenosis, Anoperineal fistula, Recurrent otitis media, Intes... OMIM:147920
Aapoaiv Amyloidosis
Paraproteinemia, Abnormality of the gastrointestinal tract ORPHA:439232
Encephalopathy, Ethylmalonic
Chronic diarrhea, Failure to thrive, Feeding difficulties OMIM:602473
Familial Glucocorticoid Deficiency
Vomiting, Diarrhea, Failure to thrive, Episodic abdominal pain, Constipation, Weight loss, Anorexia ORPHA:361
Acrodermatitis Enteropathica
Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Con... ORPHA:37
Huntington Disease-Like 2
Weight loss OMIM:606438
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Failure to thrive, Anemia, Chronic diarrhea, Dysphagia, Feeding difficulties OMIM:620358
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Diarrhea, Vomiting, Micronodular cirrhosis, Failure to thrive, Hepatocellular ne... OMIM:256810
Loeffler Endocarditis
Eosinophilia, Weight loss, Left ventricular hypertrophy, Pericarditis ORPHA:75566
Mednik Syndrome
Hepatic fibrosis, Microcolon, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis, Increased circul... OMIM:609313
Ectopic Aldosterone-Producing Tumor
Epistaxis, Decreased circulating renin level, Hypokalemia, Hypertension, Glucocortocoid-insensiti... ORPHA:231632
Pitt-Hopkins Syndrome
Tooth malposition, Gastroesophageal reflux, Failure of eruption of permanent teeth, Supernumerary... ORPHA:2896
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Bronchiectasis, Failure to thrive, Eczematoid dermatitis, Skin rash, Weight... ORPHA:79128
Cryptococcosis
Pneumonia, Vomiting, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritoni... ORPHA:1546
Rothmund-Thomson Syndrome
Diarrhea, Aplastic anemia, Vomiting, Malar rash, Skin rash, Anemia, Neutropenia, Leukemia, Nasoga... ORPHA:2909
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Feeding difficulties in infancy, Weight loss ORPHA:3208
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Vomiting, Adrenal hyperplasia, Decreased circulating cortisol level, Macroorchidism ORPHA:90790
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Skin rash ORPHA:220295
Mucopolysaccharidosis, Type Iiid
Diarrhea, Recurrent otitis media, Splenomegaly, Hepatomegaly, Macroglossia, Tube feeding, Dysphagia OMIM:252940
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma, Poor appetite ORPHA:312
Mohr-Tranebjaerg Syndrome
Dysphagia, Aspiration pneumonia ORPHA:52368
Helix Syndrome
Hyperparathyroidism, Hypohidrosis, Xerostomia, Anhidrosis OMIM:617671
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Lymphopenia, Patent foramen ovale, Neutropenia, Joint contracture, Anemi... OMIM:618460
Melas
Vomiting, Diarrhea, Intestinal pseudo-obstruction, Failure to thrive, Recurrent pancreatitis, Gas... ORPHA:550
Alport Syndrome 3A, Autosomal Dominant
Hypertension, Hypophosphatemia, Azotemia OMIM:104200
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dysphagia, Increased circulating antibody level OMIM:606002
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ... ORPHA:2538
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Lumbar hyperlordosis, Patent foramen ... OMIM:616975
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia, Anorexia ORPHA:1969
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Spastic gait, Duodenal polyposis, Hepatoblastoma, Iron deficiency anemia, Sh... ORPHA:261584
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Inflammation of the large intestine, Edema ORPHA:70591
Gm1 Gangliosidosis Type 1
Long philtrum, Aspiration pneumonia, Gingival overgrowth, Macroglossia, Hydrops fetalis, Feeding ... ORPHA:79255
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Diarrhea, Skin rash OMIM:601979
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Gastrointestinal hemorrhage, Macular edema, Skin rash, Compensated hypothyroidism ORPHA:247691
Chronic Graft Versus Host Disease
Diarrhea, Xerostomia, Gastroesophageal reflux, Urinary bladder inflammation, Fasciitis, Ascites, ... ORPHA:99921
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J... OMIM:607625
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Xerostomia, Keratitis, Oral synechia, Diarrhea, ... ORPHA:95455
Diamond-Blackfan Anemia 21
Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea OMIM:620072
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Pneumonia, Vomiting, Edema, Dehydration, Malnutrition, Pyoderma,... ORPHA:79404
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Chronic diarrhea, Failure to thrive OMIM:619484
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Duodenal ulcer OMIM:217090
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... OMIM:301068
Huntington Disease
Weight loss, Oral-pharyngeal dysphagia, Decreased body mass index ORPHA:399
Tarp Syndrome
Broad-based gait, Extramedullary hematopoiesis, Tetralogy of Fallot, Abnormal duodenum morphology... ORPHA:2886
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti... OMIM:619482
Liddle Syndrome 2
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618126
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Cholestasis, Hepatosplenomegaly, Esophagitis, Hepatic steatosi... ORPHA:541423
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatic failure, Delayed eruption of teeth, Widely spaced teeth, Aspiration pneumonia, Ascites, G... OMIM:301072
Trichinellosis
Increased circulating IgE level, Skin rash, Conjunctivitis, Nausea, Dysphagia ORPHA:863
Liddle Syndrome 1
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:177200
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level OMIM:614492
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid arthritis, Psoriasiform dermatitis, Nausea and vomiting, Hashimoto ... ORPHA:49041
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Lymphedem... ORPHA:99413
Mosaic Monosomy X
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Lymphedem... ORPHA:99228
Monosomy X
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Lymphedem... ORPHA:99226
Turner Syndrome
High, narrow palate, Abnormality of the dentition, Inflammation of the large intestine, Lymphedem... ORPHA:881
Juvenile Huntington Disease
Weight loss ORPHA:248111
Liposarcoma
Abdominal pain, Weight loss, Nausea and vomiting ORPHA:69078
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ... ORPHA:1677
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie... OMIM:618268
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic constipation, Decreased body weight, Thrombocytopenia, Hepatomegaly, High palate, Chronic... OMIM:619005
Leukocyte Adhesion Deficiency
Pneumonia, Abnormality of the dentition, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis,... ORPHA:2968
Rothmund-Thomson Syndrome Type 1
Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Functional abnormality of the gast... ORPHA:221008
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Ankle flexion contracture, Sacrococcygeal pilonidal abnormality, Camptod... ORPHA:468631
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Anal stenosis, Rectovestibular fistula, Peripheral pulmonary arte... ORPHA:280633
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Osteomyelitis, Constipation, Osteoarthritis, Septic arthritis OMIM:608654
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Pyomyositis
Myositis, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Abnormal heart morphology, Sacral dimple, Camptodactyly, Duodenal ... OMIM:247200
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Failure to thrive, Malabsorption, Abnormality of the gastrointe... ORPHA:2176
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Narrow palate, Diarrhea, Vomiting, Lipid accumulation in hepatocytes, Cardiomegaly, Hepatic calci... OMIM:608836
Rothmund-Thomson Syndrome Type 2
Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Functional abnormality of the gast... ORPHA:221016
Hyperlipoproteinemia, Type I
Vomiting, Hepatosplenomegaly, Splenomegaly, Nausea, Episodic abdominal pain, Jaundice, Acute panc... OMIM:238600
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Emotional lability, Ventricular septal defect, Bicuspid aortic valve, Atri... ORPHA:353281
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Hepatic steatosis, Cardiomegaly, Hepatomegaly, Feeding difficulties OMIM:255120
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Diarrhea, Vomiting, Failure to thrive, Acute hepatic failure, Hepatic necrosis, Hepatic steatosis... ORPHA:71212
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Diarrhea, Episodic vomiting, Constipation OMIM:105210
Infantile Neuroaxonal Dystrophy
Constipation, Aspiration pneumonia ORPHA:35069
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Pancreatitis, Hypercalcemia OMIM:145980
Giant Cell Arteritis
Hepatic failure, Gastrointestinal infarctions, Weight loss, Arthritis, Anorexia, Abdominal pain, ... ORPHA:397
Mitochondrial Dna Depletion Syndrome 11
Nausea, Chronic diarrhea OMIM:615084
Eec Syndrome
Carious teeth, Xerostomia, Blepharitis, Keratitis, Tooth agenesis, Decreased response to growth h... ORPHA:1896
Stickler Syndrome
Bifid uvula, Gastroesophageal reflux, Slender build, Short hard palate, Cachexia, Feeding difficu... ORPHA:828
Sim1-Related Prader-Willi-Like Syndrome
Small pituitary gland, Xerostomia, Downturned corners of mouth, Central hypothyroidism, Nasogastr... ORPHA:398079
Renal Nutcracker Syndrome
Anemia, Abdominal pain, Weight loss, Nausea ORPHA:71273
Polyarteritis Nodosa
Abdominal pain, Abnormality of the gastrointestinal tract, Weight loss, Pericarditis ORPHA:767
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Pathologic fracture, Hyperoxaluria, Intermittent clau... OMIM:259900
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Focal Myositis
Myositis, Weight loss ORPHA:48918
Magel2-Related Prader-Willi-Like Syndrome
Small pituitary gland, Gastroesophageal reflux, Xerostomia, Downturned corners of mouth, Central ... ORPHA:398069
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Gly... OMIM:600001
Fanconi Anemia
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Hypertrophic cardiomyopa... ORPHA:84
Pemphigus Vulgaris
Feeding difficulties in infancy, Weight loss, Recurrent cutaneous abscess formation, Feeding diff... ORPHA:704
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Thoracic hemivertebrae, Median cleft palate, But... OMIM:301043
Feingold Syndrome Type 1
Tricuspid stenosis, Abnormal heart morphology, Multiple muscular ventricular septal defects, Jeju... ORPHA:391641
Lissencephaly Due To Lis1 Mutation
Polyhydramnios, Feeding difficulties, Aspiration pneumonia ORPHA:95232
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Nausea ... ORPHA:679
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Ascites, Abnormality of the liver, Abnormal gastrointe... ORPHA:464321
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Gastroparesis, Recurrent infections due to aspiration, Constipation, Rec... ORPHA:70
Cysticercosis
Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir... ORPHA:1560
Mowat-Wilson Syndrome
Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Decreased... ORPHA:2152
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Failure to thrive, Otitis media, Constipation, High palate, Intermittent diarrhea, Feed... OMIM:618050
9Q33.3Q34.11 Microdeletion Syndrome
Tented philtrum, Esophagitis, Narrow mouth, Cryptorchidism, Constipation, Thin vermilion border, ... ORPHA:495818
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level OMIM:605115
19P13.13 Microdeletion Syndrome
Macroglossia, Vomiting, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal... ORPHA:357001
Duodenal Atresia
Duodenal atresia OMIM:223400
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Copper accumulation in liver, Prolonged neonatal jaundice, Chronic diarrhea,... OMIM:619481
Seckel Syndrome
Cachexia ORPHA:808
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Vomiting, Diarrhea, Failure to thrive OMIM:610768
Semilobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Vomiting, Aspiration pneumonia, Dec... ORPHA:220386
Alobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Vomiting, Aspiration pneumonia, Dec... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Vomiting, Aspiration pneumonia, Dec... ORPHA:93926
Lobar Holoprosencephaly
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Vomiting, Aspiration pneumonia, Dec... ORPHA:93924
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia OMIM:618527
Hurler Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Macroglossia, Rhinitis, Chronic diarrhea,... ORPHA:93473
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer, Ataxia ORPHA:3350
Granulomatosis With Polyangiitis
Keratitis, Episcleritis, Weight loss, Granulomatosis, Sinusitis, Conjunctivitis, Chronic otitis m... OMIM:608710
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:1901
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Deeah Syndrome
Narrow palate, Exocrine pancreatic insufficiency, Malabsorption, Chronic constipation, Decreased ... OMIM:619004
Acute Generalized Exanthematous Pustulosis
Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia ORPHA:293173
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme... OMIM:263200
Proteus Syndrome
Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, Cachexia, ... ORPHA:744
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Failure to thrive, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal dysm... ORPHA:2131
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Short neck, Pancreatic fibrosis, Hepatomegaly, ... OMIM:200995
Erdheim-Chester Disease
Osteomyelitis, Nausea and vomiting, Skin rash, Weight loss, Anemia, Abdominal pain, Retroperitone... ORPHA:35687
Fructose-1,6-Bisphosphatase Deficiency
Vomiting, Diarrhea, Hepatic steatosis, Reye syndrome-like episodes, Hepatomegaly ORPHA:348
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Cryptorchid... ORPHA:2745
Fatal Familial Insomnia
Constipation, Dysphagia, Weight loss OMIM:600072
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Otitis media, Intestinal obstruction, Skin rash... ORPHA:900
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol level, Intracrania... ORPHA:90795
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Carpal synostosis, Tetralogy of Fallot, Atrioventricular canal defect, Hepat... OMIM:274000
Chikungunya
Vomiting, Diarrhea, Cervical lymphadenopathy, Skin rash, Infectious encephalitis, Crusting erythe... ORPHA:324625
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Feeding difficulties, Aspiration pneumonia OMIM:619167
Tropical Pancreatitis
Vomiting, Malnutrition, Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic ca... ORPHA:103918
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Nausea, Constipation ORPHA:2828
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea, Abdominal distention ORPHA:2290
Marshall-Smith Syndrome
Eclabion, Recurrent upper respiratory tract infections, Recurrent aspiration pneumonia, Anteriorl... OMIM:602535
Cat Eye Syndrome
Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul... OMIM:115470
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Failure to thrive, Chronic constipation, Feeding difficulties in infancy... ORPHA:500055
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... ORPHA:79276
Acromesomelic Dysplasia 4
Platyspondyly, Third degree atrioventricular block, Thoracic platyspondyly, Lumbar hyperlordosis,... OMIM:619636
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... ORPHA:97286
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections, Carious teeth, Delayed eruption of teeth... OMIM:253200
Graves Disease
Weight loss, Abnormal abdomen morphology OMIM:275000
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Abnormal heart morphology, Tetralogy of Fallot, Palp... ORPHA:2847
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatic hemangioma, Recurrent aspiration pneumonia, Gastroesophageal reflux, Dysphagia ORPHA:73230
Congenital Fiber-Type Disproportion Myopathy
Dental crowding, Recurrent respiratory infections, Aspiration pneumonia, Polyhydramnios, Nasogast... ORPHA:2020
Solitary Fibrous Tumor
Pelvic mass, Neoplasm of the liver, Constipation, Weight loss, Abnormal peritoneum morphology ORPHA:2126
Doors Syndrome
Aspiration pneumonia, Short lingual frenulum, Adrenal hyperplasia, Open mouth, High palate, Gastr... ORPHA:79500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol level, Increased c... ORPHA:90793
Huntington Disease-Like 1
Weight loss ORPHA:157941
Dubowitz Syndrome
Anal stenosis, Eczematoid dermatitis, Malabsorption, Chronic diarrhea, Submucous cleft hard palat... ORPHA:235
Hereditary Angioedema Type 1
Vomiting, Diarrhea, Nausea, Intestinal edema, Abnormal soft palate morphology, Abdominal pain, Dy... ORPHA:100050
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Vomiting, Esophagitis, Gastroesophageal reflux, Feeding difficulties ORPHA:79351
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Diarrhea, Failure to thrive in infancy, Aganglionic meg... OMIM:162300
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Weight loss, Small for gestational age ORPHA:424
Coffin-Siris Syndrome 1
Kyphosis, Intestinal malrotation, Tetralogy of Fallot, Sacral dimple, Gait ataxia, Joint hypermob... OMIM:135900
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Polysplenia, Increased circulating IgE level, Splenomegaly, Pancreatic islet... ORPHA:373
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Peripheral edema,... ORPHA:60025
Familial Hypoaldosteronism
Diarrhea, Nausea and vomiting, Failure to thrive, Feeding difficulties ORPHA:427
Marfan Syndrome
High, narrow palate, Slender build, Cachexia, Arthralgia/arthritis, Cleft palate ORPHA:558
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Vomiting, Diarrhea, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation OMIM:223900
Mucolipidosis Type Ii
Hepatosplenomegaly, Splenomegaly, Otitis media, Gastrostomy tube feeding in infancy, Left ventric... ORPHA:576
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Bifid uvula, Vomiting, Hepatitis, Recurrent otitis media, Hepatic steat... OMIM:614921
Houge-Janssens Syndrome 1
Chronic diarrhea, Pyloric stenosis OMIM:616355
Diets-Jongmans Syndrome
Ventricular septal defect, Joint hypermobility, Aggressive behavior, Attention deficit hyperactiv... OMIM:618846
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Vomiting, Respiratory tract infection, Infectious encephalitis, Pustule, Cerebral edem... ORPHA:68
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Emotional lability, Ventricular septal defect, Bicuspid aortic valve, Atri... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Emotional lability, Ventricular septal defect, Bicuspid aortic valve, Atri... ORPHA:353277
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation OMIM:608643
Bullous Pemphigoid
Weight loss, Psoriasiform dermatitis, Eczematoid dermatitis ORPHA:703
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Malabsorption, Weight loss, Neutropenia, Anorexia, Abdominal pain ORPHA:79430
Arterial Tortuosity Syndrome
Gastroesophageal reflux, Esophagitis, Median cleft palate, Hiatus hernia, Pulmonary artery stenos... ORPHA:3342
Degcags Syndrome
Pneumonia, Gastroesophageal reflux, Long philtrum, Nasogastric tube feeding, Oral-pharyngeal dysp... OMIM:619488
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Scoliosis, Hypoglycemia, Anteriorly placed anus, Carpal synostosis... OMIM:201750
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Malnutrition, Weight loss, Odynophagia, Feeding difficulties ORPHA:221098
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Perry Syndrome
Weight loss ORPHA:178509
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... OMIM:270420
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Delayed eruption of teeth, Thick lower lip vermilio... ORPHA:1465
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis, Long philtrum OMIM:123700
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Ogden Syndrome
Narrow palate, Diarrhea, Vomiting, Polycythemia, Eczematoid dermatitis, Recurrent otitis media, H... OMIM:300855
Congenital Tracheal Stenosis
Hypoplastic left heart, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abno... ORPHA:141127
Alpha-Mannosidosis, Infantile Form
Pneumonia, Widely spaced teeth, Otitis media, Recurrent gastroenteritis, Macroglossia ORPHA:309282
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Aspiration pneumonia, Decrea... ORPHA:444077
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Bifid uvula, Gastroesophageal reflux, Failure to thrive in infan... ORPHA:500150
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Megaduodenum, Perimemb... OMIM:611376
Serotonin Syndrome
Nausea, Hepatic failure, Diarrhea ORPHA:43116
Adult-Onset Autosomal Dominant Leukodystrophy
Malnutrition, Aspiration pneumonia, Constipation, Anhidrosis, Decreased sweating due to autonomic... ORPHA:99027
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Skin rash, Myositis, Constipation, Weight loss, Arthritis, Abdominal... ORPHA:93672
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Gastroesophageal reflux, Downturned corners of mouth, Recurrent r... OMIM:616268
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Gastroesophageal reflux, Recurrent respiratory infections, Supernumerary nipple, Recurrent aspira... ORPHA:397715
Bartter Syndrome, Type 2, Antenatal
Vomiting, Diarrhea, Failure to thrive, Constipation, Impaired platelet aggregation, Small for ges... OMIM:241200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Elevated serum 11-deoxycortisol, Hypertension, Decreased circulating renin level OMIM:202010
Fontaine Progeroid Syndrome
High, narrow palate, Absent nipple, Gastroesophageal reflux, Long philtrum, Anteriorly placed anu... OMIM:612289
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Diarrhea, Vomiting, Gastroesophageal reflux, Villous atrophy, H... ORPHA:79328
Short Syndrome
Weight loss, Poor appetite ORPHA:3163
Iniencephaly
Absent vertebra, Hyperlordosis, Anal atresia, Arthrogryposis multiplex congenita, Duodenal atresia ORPHA:63259
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Achalasia, Feeding difficulties OMIM:615356
Tay-Sachs Disease
Dysphagia, Gastrostomy tube feeding in infancy, Aspiration pneumonia ORPHA:845
Osteosarcoma
Weight loss ORPHA:668
Hereditary Sensory And Autonomic Neuropathy Type 4
Septic arthritis, Fasciitis, Osteomyelitis, Alveolar ridge overgrowth, Tooth abscess, Hyperhidros... ORPHA:642
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Intestinal malrotation, Tricuspid regurgitation, Mitral regurgitation, Mitr... OMIM:601776
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Failure to thrive, Elevated stool chloride content, Abdominal distention OMIM:214700
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Wolf-Hirschhorn Syndrome
Accessory spleen, Malrotation of small bowel, Gastroesophageal reflux, Abnormal form of the verte... OMIM:194190
Hypoplasminogenemia
Decreased level of plasminogen, Duodenal ulcer ORPHA:722
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Chronic diarrhea, Submucous cleft hard palate, Pyloric stenosis ORPHA:457279
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Bloody diarrhea, Anal fissure, Psoriasiform dermatitis, Perianal dermatitis, Recurre... ORPHA:294023
Glycogen Storage Disease Ia
Gout, Pancreatitis, Protuberant abdomen, Hepatomegaly, Intermittent diarrhea, Enlarged kidney, He... OMIM:232200
Occipital Horn Syndrome
High, narrow palate, Gastroesophageal reflux, Hepatitis, Long philtrum, Gastroparesis, Esophagiti... ORPHA:198
Holt-Oram Syndrome
Cleft soft palate, Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Si... OMIM:142900
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Telangiectasia, Hereditary Hemorrhagic, Type 2
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial tel... OMIM:600376
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Natal tooth, Downturned corners of mouth, Long philtrum, Delayed eruption of teeth, Na... OMIM:264090
Menke-Hennekam Syndrome 2
Duodenal ulcer, Joint hypermobility OMIM:618333
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Platyspondyly, Atrioventricular block ORPHA:93317
Cerebrotendinous Xanthomatosis
Cholelithiasis, Diarrhea, Pseudobulbar paralysis OMIM:213700
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Mucopolysaccharidosis Type 2, Severe Form
Hepatosplenomegaly, Splenomegaly, Arthritis, Enlarged tonsils, Macroglossia, Chronic diarrhea, In... ORPHA:217085
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Mucopolysaccharidosis Type 2, Attenuated Form
Hepatosplenomegaly, Splenomegaly, Arthritis, Enlarged tonsils, Macroglossia, Chronic diarrhea, In... ORPHA:217093
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Adrenocortical Carcinoma
Increased body weight, Abdominal pain, Weight loss ORPHA:1501
8P23.1 Microdeletion Syndrome
Obesity, Weight loss, High palate ORPHA:251071
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Ventricular septal defect, Hepatoblastoma, Arrhythmia, Atrial s... OMIM:312870
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Neoplasm of the heart, Abnormality of the gastrointestinal tr... ORPHA:2241
Aspartylglucosaminuria
Macroglossia, Diarrhea, Neutropenia, Hepatomegaly, Vacuolated lymphocytes, Acne OMIM:208400
Hereditary Late-Onset Parkinson Disease
Weight loss, Dysphagia, Chronic constipation ORPHA:411602
Perry Syndrome
Weight loss OMIM:168605
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Weight loss, Dysphagia, Intestinal pseudo-obstruction OMIM:607459
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Gastroesophageal reflux, Failure to thrive, Ankyloglossia, Obesity, Constipa... OMIM:615873
Choreoacanthocytosis
Acanthocytosis, Splenomegaly, Protruding tongue, Abnormal erythrocyte enzyme concentration or act... ORPHA:2388
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Restrictive Dermopathy
Osteopenia, Microcolon, Camptodactyly of finger, Multiple joint contractures, Submucous cleft har... ORPHA:1662
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia OMIM:175780
Mucopolysaccharidosis Type 2
Hip osteoarthritis, Splenomegaly, Hepatomegaly, Enlarged tonsils, Macroglossia, Chronic diarrhea ORPHA:580
Townes-Brocks Syndrome 1
Anal stenosis, Gastroesophageal reflux, Tetralogy of Fallot, Ventricular septal defect, Tracheoes... OMIM:107480
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Microcolon, Ileal atresia, Peritonitis, Elevated pulmonary artery pressure OMIM:619351
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon, Portal hypertension OMIM:619431
Norrie Disease
Cachexia, Failure to thrive ORPHA:649
Niemann-Pick Disease Type C
Hepatic failure, Fetal ascites, Aspiration pneumonia, Ascites, Gastrostomy tube feeding in infanc... ORPHA:646
Dermatomyositis
Abnormal eosinophil morphology, Heliotrope rash, Skin rash, Myositis, Feeding difficulties in inf... ORPHA:221
Lipodystrophy, Familial Partial, Type 7
Vomiting, Diarrhea, Failure to thrive, Recurrent pancreatitis, Dysphagia, Small for gestational a... OMIM:606721
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis, Secretory diarrhea OMIM:167100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Microcolon OMIM:619362
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Gastroesophageal reflux, Increased circulating prolactin concentration, Aspiration pneumonia, Cry... ORPHA:438213
Scorpion Envenomation
Vomiting, Diarrhea, Myocarditis, Abdominal pain, Acute pancreatitis ORPHA:466677
Zttk Syndrome
Bifid uvula, Failure to thrive, Absent gallbladder, Submucous cleft hard palate, Feeding difficul... OMIM:617140
Fraser Syndrome 1
Abnormal heart morphology, Abnormal small intestine morphology, Abnormality of the anus, Abnormal... OMIM:219000
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... ORPHA:220460
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Stomach cancer, Duodenal adenocarcinoma... ORPHA:733
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Recurrent pneumonia, Anoperineal fistula, Failure to thrive, Chapped lip, Abnormal ton... ORPHA:158668
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Failure to thrive, Exocrine pancreatic insufficiency, Intestinal malrotati... ORPHA:2255
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Proximal Renal Tubular Acidosis
Vomiting, Diarrhea, Malabsorption, Failure to thrive ORPHA:47159
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Nmda Receptor Encephalitis
Neoplasm of the thymus, Vomiting, Diarrhea ORPHA:217253
Oculopharyngodistal Myopathy 1
High palate, Weight loss, Dysphagia OMIM:164310
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Isolated Permanent Neonatal Diabetes Mellitus
Reduced pancreatic beta cells, Weight loss, Pancreatic hypoplasia, Failure to thrive ORPHA:99885
Yunis-Varon Syndrome
Absent nipple, Aspiration pneumonia, Premature loss of primary teeth, Polyhydramnios, Cryptorchid... OMIM:216340
Tsh-Secreting Pituitary Adenoma
Vomiting, Nausea and vomiting, Weight loss ORPHA:91347
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis, Chronic diarrhea ORPHA:909
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Interstitial pneumonitis, Neoplasm of ... ORPHA:77293
Lafora Disease
Recurrent aspiration pneumonia, Hepatic failure, Nasogastric tube feeding ORPHA:501
Goodpasture Syndrome
Anemia, Weight loss, Glomerulonephritis OMIM:233450
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Gastroesophageal reflux, Anal atresia, Chronic diarrhea ORPHA:3164
Occipital Horn Syndrome
Hiatus hernia, High palate, Chronic diarrhea OMIM:304150
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Vomiting, Failure to thrive, Weight loss, Acne, Feeding difficulties ORPHA:90794
Hutchinson-Gilford Progeria Syndrome
Ankyloglossia, Severe failure to thrive, Weight loss, Osteoarthritis, High palate ORPHA:740
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase... ORPHA:85410

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 Il2ra

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 Il2ra.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Conditional deletion of CD25 in the corneal epithelium reveals sex differences in barrier disruption. The ocular surface (July 2023) Il2ratm1c(EUCOMM)Wtsi 37516317
Lymph node fibroblastic reticular cells regulate differentiation and function of CD4 T cells via CD25. The Journal of experimental medicine (March 2022) Il2ratm1a(EUCOMM)Wtsi PMC8943836
Group 1 ILCs regulate T cell-mediated liver immunopathology by controlling local IL-2 availability. Science immunology (February 2022) Il2ratm1c(EUCOMM)Wtsi 35213210
Essential and non-overlapping IL-2Rα-dependent processes for thymic development and peripheral homeostasis of regulatory T cells. Nature communications (March 2019) Il2ratm1c(EUCOMM)Wtsi Il2ratm1a(EUCOMM)Wtsi PMC6399264
IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis. The Journal of allergy and clinical immunology (December 2018) Il2ratm1c(EUCOMM)Wtsi Il2ratm1a(EUCOMM)Wtsi 30578871

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
Il2ratm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Il2ratm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Il2ratm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Il2ratm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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