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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
decreased mean corpuscular hemoglobin concentration Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased mean corpuscular hemoglobin Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased hemoglobin content Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased body length Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.57×10-07
decreased mean corpuscular volume Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.10×10-05
abnormal contextual conditioning behavior Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.52×10-05
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 calcium level Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 7.24×10-05
decreased erythrocyte cell number Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased circulating phosphate level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.16×10-05
decreased blood urea nitrogen level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.33×10-05
abnormal vertebrae morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.14×10-08
abnormal cholesterol homeostasis Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.40×10-06
abnormal colon morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged lymph nodes Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased large unstained cell number Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.00×10-09
decreased vertical activity Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.17×10-05
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 locomotor activity Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 3.38×10-09
decreased circulating serum albumin level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.86×10-39
decreased circulating alkaline phosphatase level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.14×10-15
decreased lymphocyte cell number Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.32×10-07
increased circulating aspartate transaminase level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.71×10-06
decreased circulating cholesterol level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.46×10-06
prolonged PR interval Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.61×10-06
improved glucose tolerance Il2ratm1b(EUCOMM)Wtsi HOM Early adult 6.26×10-10
decreased circulating total protein level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 3.77×10-16
decreased circulating glucose level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 1.69×10-08
decreased circulating HDL cholesterol level Il2ratm1b(EUCOMM)Wtsi HOM Early adult 2.27×10-08
abnormal duodenum morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal spleen morphology Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased exploration in new environment Il2ratm1b(EUCOMM)Wtsi HOM   Early adult 7.57×10-07
increased neutrophil cell number Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased hematocrit Il2ratm1b(EUCOMM)Wtsi HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

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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
Villous atrophy, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proporti... OMIM:606367
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Lymphadenopathy, Hepatos... ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating interferon-gamma concentratio... 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 proportion of CD4-pos... OMIM:618534
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Enlar... OMIM:209950
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... OMIM:618495
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... ORPHA:169154
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Recurrent otitis media, Decreased prop... OMIM:615615
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas... OMIM:615767
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... OMIM:619281
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrh... OMIM:269840
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Decreased circulating antibody level, Abnormal... OMIM:613101
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... OMIM:616868
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I... OMIM:615285
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun... ORPHA:98813
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Abdominal pain, Increased circulating IgA ... OMIM:617099
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... OMIM:618969
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ... OMIM:618048
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina... ORPHA:277
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Hypomagn... ORPHA:398063
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B... OMIM:607594
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci... OMIM:618108
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Oral ulcer, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn... OMIM:613148
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce... OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly... OMIM:616100
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Br... OMIM:617638
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Reduced natural killer cell activity... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... OMIM:267700
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Aphthous ulcer, Diarrhea, Ulcerative colitis, Inflammatio... OMIM:266600
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Decreased circulating antibody le... ORPHA:33355
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent... OMIM:240500
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Impaired Ig class switch recombination, Lympha... OMIM:605258
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Pneumonia, Anorexia, Eosinophilia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythro... ORPHA:169160
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis OMIM:613860
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:609529
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Abnormal ly... ORPHA:911
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proporti... OMIM:606367
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Mo... OMIM:615592
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:100025
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Splenomegaly, Lymphaden... OMIM:260920
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... ORPHA:443811
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin rash, Lymphopenia, Autoimmune he... ORPHA:331206
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating fer... OMIM:603553
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Abdominal pain, Cervical lymphadenopathy, Diarrhea, Lymphaden... ORPHA:83313
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H... ORPHA:172
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthri... OMIM:619510
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E... OMIM:602450
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Increased circulating antibody level OMIM:162700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... OMIM:601457
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Pericardial effusion, Func... ORPHA:90362
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Failure to thrive, Skin rash, Follicular hyperplasia, Pustule, Increased c... OMIM:615934
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... OMIM:617241
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613500
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Immunodeficiency 46
Chronic oral candidiasis, Chronic diarrhea, Neutropenia, Decreased circulating antibody level, Co... OMIM:616740
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Splenomega... OMIM:618935
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... ORPHA:397596
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619707
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Pulmonary embolism, Iron deficiency anemia, ... OMIM:226300
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... ORPHA:247585
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Chronic lymphatic ... OMIM:616005
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Malabsorption OMIM:152800
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T ly... OMIM:616433
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor... ORPHA:2494
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi... OMIM:308240
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Increased circ... ORPHA:343
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Increased ... OMIM:243700
Angiostrongyliasis
Projectile vomiting, Poor appetite, Abdominal pain, Increased circulating IgA level, Hypereosinop... ORPHA:74
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Malabsorption ORPHA:1116
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... ORPHA:26793
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... ORPHA:141152
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil... OMIM:615895
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Immunodeficiency 32B
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B... OMIM:226990
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Malnutrition, Gastroesophageal reflux, Dysphagia, Recurrent aspirati... ORPHA:930
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Linear Iga Dermatosis
Epistaxis, Inflammation of the large intestine, Oral ulcer ORPHA:46488
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Protracted diarrhea, Decrea... OMIM:615758
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... OMIM:618459
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytope... ORPHA:507
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... ORPHA:99828
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l... ORPHA:37748
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist... ORPHA:75233
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Melioidosis
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... ORPHA:31202
Porphyria, Acute Hepatic
Hemolytic anemia, Abdominal colic, Failure to thrive, Vomiting OMIM:612740
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... OMIM:612526
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Diarrhea, Leukocytosis, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Increased circulating IgA level, Pyloric stenosis, Abdominal adhe... OMIM:616395
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... OMIM:608184
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Spinal rigidity, F... OMIM:615883
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Vomi... ORPHA:37042
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... ORPHA:167
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology DECIPHER:16
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Johanson-Blizzard Syndrome
Diabetes mellitus, Dextrocardia, Malabsorption, Abnormality of the pancreas, Anteriorly placed an... ORPHA:2315
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Respiratory insufficiency, Inflammat... ORPHA:26790
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia OMIM:615010
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Autoimmune Hypoparathyroidism
Prolonged QT interval, Increased bone mineral density, Ventricular arrhythmia, Confusion, Depress... ORPHA:36913
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Gastroint... ORPHA:1572
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Reduced systolic function, Microcytic anemia, Dilated cardiomyopa... OMIM:618805
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Atypical Hemolytic Uremic Syndrome
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... ORPHA:2134
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 50
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level OMIM:300988
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Abdo... ORPHA:2137
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bro... OMIM:242700
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Impaired T cell function, P... OMIM:613179
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... OMIM:614069
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,... OMIM:102700
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh... ORPHA:2930
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T c... ORPHA:83471
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Abnormal cardiac ... ORPHA:3319
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Mental deterioration, Limb ataxia, Ga... OMIM:208920
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Hepatosplenomegaly, Sterile arthritis, Art... OMIM:604416
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Cach... ORPHA:83469
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Scoliosis, Hepatic ... OMIM:619013
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... ORPHA:449400
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Immunodeficiency 43
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... OMIM:241600
Immunodeficiency 61
Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Obesity, A... OMIM:300310
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Osteomyelitis, Abnormality of the tonsils, Malabsorption, ... ORPHA:47
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea,... OMIM:275350
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy... OMIM:301078
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Generalized lymphadenopathy,... OMIM:618986
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... OMIM:301074
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Maternal Uniparental Disomy Of Chromosome 4
Ataxia, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Acanthocytosis,... ORPHA:96180
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A... ORPHA:358
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... OMIM:619774
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Lymphopenia, Recurrent skin infections, Splenomegaly, Cleft palate, Decreased circu... OMIM:620210
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Splenomegaly, Panc... OMIM:235255
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... ORPHA:3392
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Portal hypertension, Cachexia... ORPHA:824
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Recurrent ... ORPHA:275
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Hypocalcemia, Delirium, H... ORPHA:94093
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia ORPHA:94124
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level OMIM:193670
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Sandwich appearance of... OMIM:259700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Congenital hypothyroidism ORPHA:88643
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... ORPHA:91139
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia OMIM:615863
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration OMIM:221400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectas... OMIM:242860
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M... OMIM:618278
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Short neck, Elevated circulating creatinine concentration, Cholestasis, Anemia, Per... OMIM:608104
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-... OMIM:175500
Alg6-Cdg
Ataxia, Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver... ORPHA:79320
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Allergic rhinitis,... OMIM:615816
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,... ORPHA:169105
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Celiac disease, Osteoporosis, Rickets, Depression, Iron deficiency ane... OMIM:212750
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Jaundice, Neutropenia, ... ORPHA:1667
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Ataxia, Hypoalbuminemia OMIM:607250
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... ORPHA:90045
Reni Syndrome
Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Mental deterioration, Lymphopenia OMIM:617575
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... ORPHA:79124
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Malabsorption OMIM:137100
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Babesiosis
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Leukopenia... ORPHA:108
Congenital Enterovirus Infection
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Thrombocytopenia... ORPHA:292
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Brucellosis
Liver abscess, Anorexia, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Abnorm... ORPHA:1304
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... ORPHA:77297
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... ORPHA:232
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Bro... OMIM:619752
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Irritability, Neoplasm of the liver, Hypertension, Intern... ORPHA:69077
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr... ORPHA:158048
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Pancreatic lymphangiectasis, P... ORPHA:1655
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa... ORPHA:14
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Myocardial infarction, Angina pectoris, Sp... ORPHA:90041
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Tempi Syndrome
Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormality of th... ORPHA:229717
Alg1-Cdg
Abnormality of the gastrointestinal tract, Kyphosis, Limitation of joint mobility, Abnormal heart... ORPHA:79327
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... OMIM:614493
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Short neck, Inability to walk, Thrombocytopenia, Splenomegaly, Flexion contracture,... OMIM:617303
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Asplenia, Cerv... OMIM:614034
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Marburg Hemorrhagic Fever
Back pain, Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Leukopenia,... ORPHA:99826
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho... ORPHA:99867
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, Splenomegaly, Thrombocytopenia, ... OMIM:617591
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent... OMIM:150550
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue, Gastrointe... ORPHA:314652
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasi... OMIM:618523
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Igg4-Related Submandibular Gland Disease
Cholangitis, Facial edema, Periorbital edema, Prostatitis, Xerostomia, Enlarged lacrimal glands, ... ORPHA:449432
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections OMIM:618806
Pseudohypoparathyroidism, Type Ic
Short neck, Osteoporosis, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypocalcemic tetany OMIM:612462
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Increased bone mineral density, Short neck, Diaphyseal scleros... ORPHA:94089
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Chronic diarrhea, Esophageal ... OMIM:614576
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... ORPHA:85443
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio... OMIM:246700
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level, Feeding difficulties, Failure to... OMIM:617744
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Recurrent gastroenteritis, Bronchiectasis, Gingivitis OMIM:618648
Analbuminemia
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... OMIM:616000
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Confusion, Sin... ORPHA:466650
Diarrhea 13
Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Pericarditis, Hepatomegaly, Acute pancreatitis, Portal hypertension, Pericardia... OMIM:619487
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Neutropenia... OMIM:615387
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Pseudohypoparathyroidism, Type Ia
Short neck, Osteoporosis, Subcutaneous ossification, Hyperphosphatemia, Cognitive impairment, Hyp... OMIM:103580
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Decreased serum iron, Esophageal stricture, Dilated cardiomyop... ORPHA:89842
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Thrombo... OMIM:259720
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi... ORPHA:2686
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... OMIM:619445
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... OMIM:615846
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio ORPHA:94086
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent sinusitis, Recurrent aphthous s... OMIM:613960
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Osteomyelitis, Elevated circulating creatine kinase concentration, Confusion,... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Pericarditis, Villous atrophy, Ataxia, Pericardial effusion, Kyphosis, ... OMIM:212065
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... OMIM:224120
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Increased fecal coproporphyrin 3, Confusion, Ankle flexion contractur... ORPHA:100924
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Acute colitis, Abnormal pericardium morphology, Lung absce... ORPHA:67
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular... ORPHA:273
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Failure to thrive in infancy, Fluctu... OMIM:610377
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Elevated circulating creatine kinase concentration, First degree atrioventricular ... OMIM:310300
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... OMIM:615617
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... ORPHA:810
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive OMIM:612075
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Atrial septal de... ORPHA:505248
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Kyphosis, Increased skull ossification, Craniofacial osteoscler... OMIM:618476
Cartilage-Hair Hypoplasia
Short neck, Heart block, Abnormal form of the vertebral bodies, Hypocalcemia, Abnormal bone ossif... ORPHA:175
Hemorrhagic Fever-Renal Syndrome
Back pain, Intracranial hemorrhage, Internal hemorrhage, Confusion, Leukocytosis, Elevated circul... ORPHA:340
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Osteom... OMIM:614162
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... ORPHA:79078
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Increased circulating IgM ... ORPHA:2688
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Small for gestational age, Macronodular cirrhosis, Decreased circulat... OMIM:215250
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, ... ORPHA:2298
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... OMIM:601005
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Recurrent pneumonia, Increased ci... OMIM:618282
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Increased bone mineral density, Confusion, Short neck, Depress... ORPHA:79443
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... OMIM:607765
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... ORPHA:99772
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walkin... ORPHA:99845
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Lacunar stroke, Macroglossi... OMIM:618440
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss ORPHA:79238
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Celiac disease, Abdominal distention, Jaund... ORPHA:186
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Skin rash, Abdominal pain, Disc... ORPHA:93552
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... ORPHA:247353
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thrombocytopenia, Diarrhea, Jaundice, L... ORPHA:858
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Vomiting, Fail... OMIM:616069
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:42642
Secondary Intestinal Lymphangiectasia
Lymphopenia, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsin co... ORPHA:90363
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Cardiomegaly, Microcytic anemia, Increased cir... OMIM:256040
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure ORPHA:46532
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Increased bone mineral density, Confusion, Short neck, Depress... ORPHA:79444
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Lymphopenia, Gastritis, Hepatoblastoma, Increased mean platelet vo... ORPHA:84064
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
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
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal form of the vertebral bodies, ... ORPHA:93160
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Abnormality of the pancreas, Diarrhea... ORPHA:54251
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Wilson Disease
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalbuminemia, Hepatic steat... OMIM:277900
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphad... ORPHA:3226
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating tota... OMIM:613496
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia, Decreased circulating antibod... OMIM:601495
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Splen... ORPHA:90051
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Sudden c... OMIM:181350
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Anorexia, Abdominal pain, Mala... ORPHA:3452
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp... OMIM:174900
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Protein... OMIM:602579
Sitosterolemia 1
Reticulocytosis, Abdominal pain, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stom... OMIM:210250
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... OMIM:127000
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia ORPHA:79445
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, P... OMIM:613490
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Dysphagia, Failure to thr... DECIPHER:45
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarr... OMIM:300972
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Immunodeficiency 87 And Autoimmunity
Villous atrophy, Atrophic gastritis, Abnormal lymphocyte proliferation, Secretory diarrhea, Hepat... OMIM:619573
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Hypercalcemia, Irritability, Anemia ORPHA:436
Sarcoidosis, Susceptibility To, 1
Anorexia, Pericardial effusion, Iridocyclitis, Dyspnea, Emphysema, Enlarged lacrimal glands, Bron... OMIM:181000
Bone Marrow Failure Syndrome 4
Eczema, Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellu... OMIM:618116
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Neutropenia in ... OMIM:615952
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Fat malabsorpt... ORPHA:811
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Esophageal v... ORPHA:367
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hypogly... ORPHA:199299
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... OMIM:603552
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten... OMIM:251880
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Mental deterioration... OMIM:254900
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc... ORPHA:94090
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Indolent Systemic Mastocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Idiopathic Pulmonary Fibrosis
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph... ORPHA:2032
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Prolidase Deficiency
Hepatomegaly, Eczema, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, Crusting erythematous ... OMIM:170100
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, High palate, Gastroesoph... OMIM:613658
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Flexion contracture, Hypoproteinemia, Aggressive behavior OMIM:608093
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sp... OMIM:264700
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Poor appetite, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss, Bon... ORPHA:391
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Ventricular escape rhythm, Back pain, Hypertriglyceridemia, Elevated circulating c... ORPHA:98855
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Pancytopenia, Skin rash, Maculopapular exanthema, Aplastic anemia... ORPHA:398124
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Bifid uvula, Hypocalcemic seizures OMIM:241410
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hypoa... ORPHA:79319
Alg12-Cdg
Hyponatremia, Intestinal malrotation, Muscular ventricular septal defect, Biventricular hypertrop... ORPHA:79324
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Bloody ... OMIM:617718
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Poikilocytos... OMIM:300908
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Craniosynostosis, Vertebral clefting, Inc... OMIM:241500
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:212138
Sanjad-Sakati Syndrome
Intestinal obstruction, Patchy osteosclerosis, Spinal canal stenosis, Hyperphosphatemia, Hypocalc... ORPHA:2323
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Cognitive impairme... OMIM:616267
Galactosemia I
Hemolytic anemia, Hepatomegaly, Diarrhea, Vomiting, Decreased liver function, Cirrhosis, Failure ... OMIM:230400
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Fat malabsorption,... ORPHA:71
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea,... ORPHA:90038
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Patent foramen ovale, High palate, Gastroesophageal ref... OMIM:610883
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hep... OMIM:614602
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis,... ORPHA:171
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Short neck, Atrioventricular block... ORPHA:98863
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Progressive Familial Heart Block, Type Ia
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... OMIM:113900
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous... ORPHA:79076
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean pl... OMIM:222470
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Abdominal pain, Cardiomegaly, Splenomegaly, Splenic infarction, J... OMIM:603903
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Ky... OMIM:239000
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Primary Membranoproliferative Glomerulonephritis
Hypertension, Hypoalbuminemia, Myocardial infarction ORPHA:54370
Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ... ORPHA:98853
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... ORPHA:93941
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemi... ORPHA:93325
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, High palate, Hypoalbuminemia, Paroxysmal bursts of laughter OMIM:618347
Netherton Syndrome
Villous atrophy, Failure to thrive, Recurrent skin infections, Allergic rhinitis, Eczema, Increas... OMIM:256500
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... OMIM:153670
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile duct morph... ORPHA:562639
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, Ar... OMIM:604250
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pn... ORPHA:47612
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Hypertensi... ORPHA:2169
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Congenital Myopathy 24
Waddling gait, First degree atrioventricular block, Cardiomyopathy, Abnormal circulating creatine... OMIM:617336
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea... OMIM:266510
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Abnormal large int... ORPHA:2198
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Tricuspid regurgitation, Congestive heart failure, Cholestasis, Cardio... ORPHA:746
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Vomiting, Hepat... ORPHA:275761
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Achlorhydria, Abnormal blood ion concentration, Irritabi... ORPHA:173
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Colchicine Poisoning
Hyponatremia, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, Abnormal blood io... ORPHA:31824
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Autosomal Dominant Hypocalcemia
Congestive heart failure, Depression, Reduced bone mineral density, Hyperphosphatemia, Hypocalcem... ORPHA:428
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa... ORPHA:809
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Abdominal pain, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenop... OMIM:618852
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Cystinosis
Portal hypertension, Malabsorption, Rickets, Hypokalemia, Gait disturbance, Hypophosphatemia, Typ... ORPHA:213
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... ORPHA:822
Microlissencephaly
Pneumonia ORPHA:1083
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Vomiting, Hepatic fibrosis, Hepatic st... OMIM:278000
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Eosinophilia, Recurrent pneumonia, Increased circulating IgE level, Chronic mucocutane... OMIM:147060
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit... ORPHA:289157
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Asthma, Atopic dermatitis, Membranous nephropathy, Colonic eosin... OMIM:618999
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly ORPHA:2123
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... OMIM:152700
Dyskeratosis Congenita, Digenic
Failure to thrive, Decreased circulating total IgM, Gastroesophageal reflux, Dysphagia, Decreased... OMIM:620040
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Gastroesophageal reflux, Attention deficit hyperactivity disorder OMIM:615401
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis... ORPHA:77259
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P... ORPHA:542306
Immunodeficiency 56
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Panhypogam... OMIM:615207
Congenital Lethal Erythroderma
Hypoalbuminemia, Malabsorption ORPHA:1954
Ataxia-Telangiectasia
Lymphopenia, Failure to thrive, Sinusitis, Decreased circulating IgG2 level, Chronic diarrhea, Br... OMIM:208900
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocy... ORPHA:514
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Chronic diarrhea, Bronchiectasis, Recurrent upper r... OMIM:619446
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Vomiting, I... ORPHA:2552
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Rift Valley Fever
Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Melena, Increas... ORPHA:319251
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Roifman Syndrome
Eczema, Eosinophilia, Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Decreased circula... ORPHA:353298
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl... OMIM:613385
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Osteopenia, Inability to walk, Splenomegaly, Hypertension, Hypokalemia,... OMIM:617913
Cog7-Cdg
Hepatomegaly, Small for gestational age, Diarrhea, Jaundice, Feeding difficulties, Hepatosplenome... ORPHA:79333
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Acute colitis, Diabetes mellitus, Hypertensive cri... ORPHA:544482
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Abdominal distention, Increased hepatitis B virus antibody level, Abnormal liver ... ORPHA:90003
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Asthma, ... OMIM:617321
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Nasogastric tube feeding in infancy, Dyspnea,... ORPHA:90117
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Pyloric stenosis, Splenomegaly, Jaundice, Hepatitis, Ly... ORPHA:381
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosis, Cardiomy... ORPHA:79312
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... ORPHA:231226
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, He... ORPHA:103910
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Diarrhea, Vomiting OMIM:605911
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Hypocalcemia, Short neck ORPHA:1438
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... OMIM:612649
Hypotonia-Cystinuria Syndrome
Polyphagia, Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Failure to thrive OMIM:201100
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Cirrhosis,... ORPHA:75234
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Polyhydramnios, Abdominal pain, Feeding difficulties, High palate, Vom... OMIM:616809
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Doub... ORPHA:3426
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
S-Adenosylhomocysteine Hydrolase Deficiency
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... ORPHA:88618
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... OMIM:611705
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatit... ORPHA:391487
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Gracile Bone Dysplasia
Asplenia, Hypocalcemia, Hypoplastic spleen, Decreased skull ossification, Ankyloglossia OMIM:602361
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Nephrotic Syndrome, Type 11
Ventricular septal defect, Dilated cardiomyopathy, Cleft palate, Hypoalbuminemia, High palate, Hy... OMIM:616730
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Inte... OMIM:603041
Omenn Syndrome
Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic dia... ORPHA:39041
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Anorexia, Malabsorption, Abnormalit... ORPHA:33226
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia,... OMIM:235510
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Pyloric stenosis, Recurrent pneumo... OMIM:615577
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Abdominal pain OMIM:118830
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo... ORPHA:2902
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Increased circulating IgG level, Cholecystitis, Decr... ORPHA:449395
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... ORPHA:231214
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Bronchitis, Bronchial br... ORPHA:449280
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia, Anemia ORPHA:2668
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis OMIM:200400
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... OMIM:612301
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Edema, Arthritis, Inflamm... ORPHA:324964
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Bloom Syndrome
Poor appetite, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased circulat... ORPHA:125
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Spinal canal stenosis, Hypoplastic vertebral bodies, Epiphyseal st... OMIM:101800
Cystic Echinococcosis
Abdominal symptom, Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abs... ORPHA:400
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement d... ORPHA:449427
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... ORPHA:98870
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Diarrhea, Abdominal pain OMIM:615399
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Vomiting, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:614480
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... ORPHA:3260
Fibronectin Glomerulopathy
Hypertension, Hypoalbuminemia, Cerebral hemorrhage ORPHA:84090
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit... OMIM:611762
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractur... ORPHA:2785
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Recurrent fractures, Craniosynostosis, Splenom... ORPHA:667
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Vomiting, Failure to thrive OMIM:230350
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Acquired Partial Lipodystrophy
Hepatic steatosis, Decreased circulating complement C3 concentration, Lymphocytosis ORPHA:79087
Oculoskeletodental Syndrome
Hypercalcemia, Hyperlordosis, Thoracic kyphosis, Hypocalcemia, Scoliosis ORPHA:557003
Q Fever
Anorexia, Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculop... ORPHA:781
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Gait disturbance, Hypocalc... ORPHA:352540
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Diarrhea, Panhypogammaglo... OMIM:307200
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Polyhydramnios, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhe... OMIM:619971
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc... ORPHA:723
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Diarr... OMIM:235400
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T... ORPHA:169090
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Myocarditis,... ORPHA:549
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Recurrent fractures, Craniosynostosis, Progressive psychomotor deterioration, Hype... ORPHA:251004
Squalene Synthase Deficiency
Bicuspid aortic valve, Increased circulating farnesol concentration, Elbow flexion contracture, D... OMIM:618156
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... OMIM:620152
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Generaliz... ORPHA:160
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Celiac disease, Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Gastritis, Con... ORPHA:31826
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... ORPHA:587
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Pneumonia, Bronchiolitis OMIM:266265
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Osteoporosis, Irritability, Portal fibros... ORPHA:369
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Cleft pala... OMIM:612561
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hepatic failure, Cholelithiasis, Eczema OMIM:177000
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis ORPHA:75563
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... OMIM:617092
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Pustule, Recurrent skin i... ORPHA:793
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Decreased circulating IgA level, Hepatosplenomegaly, Decreased circul... ORPHA:79330
Malignant Hyperthermia Of Anesthesia
High-output congestive heart failure, Hyperkalemia, Cardiomyocyte mitochondrial proliferation, Ve... ORPHA:423
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Trehalase Deficiency
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... ORPHA:31150
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Hypophosphatemia, Pol... OMIM:239200
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia, Hypocalcemia, Lethargy, Patent foramen ovale, Butterfly vertebrae OMIM:607143
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Cleft palate, G... ORPHA:2306
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Intestinal Botulism
Nausea and vomiting, Respiratory insufficiency due to muscle weakness, Dyspnea, Diarrhea, Xerosto... ORPHA:178481
Myeloma, Multiple
Paraproteinemia OMIM:254500
Linear Verrucous Nevus Syndrome
Mental deterioration, Reduced bone mineral density, Scoliosis, Hypophosphatemia ORPHA:2611
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczemat... OMIM:619693
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Cardiomegaly, Diarrhea, Vomiting, Decreased liver function, Hepatic steat... ORPHA:42
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology, Failure to th... OMIM:606528
Addison Disease
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypoglycemia... ORPHA:85138
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Reduced bone ... ORPHA:324
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Caffey Disease
Feeding difficulties in infancy, Increased circulating antibody level ORPHA:1310
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency OMIM:260450
Graft Versus Host Disease
Myositis, Fasciitis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... OMIM:615512
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Malabsorption, Pericardial effusion, Splenomegaly, Pyl... ORPHA:2136
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, High palate... OMIM:619743
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... OMIM:617091
Crimean-Congo Hemorrhagic Fever
Anorexia, Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis, Morbillifor... ORPHA:99827
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Burkitt Lymphoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Igg4-Related Ophthalmic Disease
Sinusitis, Palpebral edema, Cholangitis, Orchitis, Keratitis, Abnormal lung morphology, Abnormali... ORPHA:449563
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Abnormality of... ORPHA:33276
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Ri... ORPHA:2088
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hypohidrosis, Colitis OMIM:301220
Laryngeal Neuroendocrine Tumor
Weight loss, Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis,... OMIM:601847
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron... OMIM:604571
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Eosinophilia, Abscess, Erythema nodosum, Abnor... ORPHA:228123
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Diarrhea, Ab... ORPHA:221139
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Hepatic cysts, Eosinophilia, Abn... ORPHA:284
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic active hepatitis, Chronic diarrhea, R... OMIM:614379
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis OMIM:270150
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Tick-Borne Encephalitis
Anorexia, Thrombocytopenia, Leukocytosis, Increased circulating IgG level, Increased circulating ... ORPHA:297
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Adult-Onset Nemaline Myopathy
High palate, Paraproteinemia, Neuromuscular dysphagia, Feeding difficulties ORPHA:171442
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties ... OMIM:257200
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Pyloric stenosis, Recurrent pneumonia, Ileus, Feeding difficulties, C... OMIM:613327
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia OMIM:607616
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Monostotic fibrous dysplasia, Recurrent fractures, Fibrous dysplasia ... ORPHA:562
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Hermansky-Pudlak Syndrome 1
Epistaxis, Abdominal pain, Hematochezia, Restrictive ventilatory defect, Inflammation of the larg... OMIM:203300
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea,... ORPHA:178320
Lead Poisoning
Skin rash, Small for gestational age, Anorexia, Abdominal pain, Abdominal distention, Increased c... ORPHA:330015
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hyperextensibility of the finger joints, Ventricular septal defect, Thrombocy... ORPHA:163979
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Membranoproliferative glomerulonephritis, Maculopapular exan... OMIM:619644
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn... ORPHA:567548
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Abdominal pain, Diarrhe... ORPHA:486
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abdominal pain, Abnormal stomach morpholog... ORPHA:2357
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Aspergillosis
Chronic lung disease, Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pu... ORPHA:1163
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Progressive neurologic deterioration, Bile duct proliferation, Hypoalbuminemia, Mac... OMIM:618329
22Q11.2 Deletion Syndrome
Short neck, Anorectal anomaly, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux, A... ORPHA:567
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Abdominal pain, Pustule, Diarrhea, Respi... ORPHA:29207
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased... OMIM:232700
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia OMIM:211900
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc... OMIM:618183
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Stea... OMIM:235555
Zika Virus Disease
Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Increased circulating IgM level,... ORPHA:448237
Glycogen Storage Disease Ixb
Splenomegaly, Diarrhea, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Orofaciodigital Syndrome Viii
Median cleft lip, High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:300484
Aredyld Syndrome
Splenomegaly, Cachexia, Hepatomegaly ORPHA:1133
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Osteoporosis, ... OMIM:606054
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Irritability, Hypoalbuminemia, Macroves... OMIM:613070
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the vertebral column, Hypercalcemia OMIM:191420
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Dyspepsia, Gastrointestinal hemorrhage, Intestinal obs... ORPHA:85450
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic... ORPHA:35858
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Oral ulcer, Arthritis, Recurrent oti... OMIM:620321
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Fibrous Dysplasia Of Bone
Abnormality of the cervical spine, Thin bony cortex, Antalgic gait, Diabetes mellitus, Hypercalce... ORPHA:249
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Hypoglycemia, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hy... OMIM:617093
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Diabetes mellitus, Confusion, Elevated circulating C-reactive protein concen... ORPHA:36238
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Moynahan Syndrome
Cachexia ORPHA:2574
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Smith-Kingsmore Syndrome
Thrombocytopenia, Large for gestational age, Decreased circulating IgA level, Feeding difficulties OMIM:616638
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... ORPHA:90340
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Abnormal sacrum morphology, Bone... ORPHA:2591
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight los... ORPHA:420741
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sp... OMIM:277440
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cirrhosis,... OMIM:613489
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Diarrhea, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:90035
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Ataxia-Telangiectasia
Diabetes mellitus, Ataxia, Telangiectasia of the skin, Gait disturbance, Type II diabetes mellitu... ORPHA:100
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Abdominal pain,... ORPHA:829
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurolo... OMIM:300438
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... OMIM:235200
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Jaundice, Increased circulating IgM level, Conjunc... ORPHA:99824
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Diarrhe... ORPHA:36412
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Red... ORPHA:157215
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo... OMIM:613839
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia, Nasogastric tube feeding OMIM:619057
Ciliary Dyskinesia, Primary, 37
Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea OMIM:617577
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Portal ... ORPHA:131
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... ORPHA:264580
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Dent Disease 2
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia OMIM:300555
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Thrombocytopenia, Hyperammonemia, Choreoathetosis, Neutropenia, Lethargy, Pancreati... ORPHA:289916
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Diarrhea, Jaundice, ... OMIM:211600
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Hype... OMIM:619386
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Ataxia, Portal h... OMIM:615688
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Con... ORPHA:99745
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Osteopor... OMIM:612562
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Myocardial infarction, Cerebral hemorrhage, Congestive hear... ORPHA:90065
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... OMIM:612387
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Progressive neurologic deterioration, Neutropenia, Hyperammonemia, Irritability, Dy... OMIM:618253
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Arrhythmia, Ataxia, Neutropenia OMIM:616949
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypoglycemia... ORPHA:95409
Kearns-Sayre Syndrome
Sideroblastic anemia, Diabetes mellitus, Ataxia, Cardiomyopathy, Dementia, Third degree atriovent... OMIM:530000
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im... OMIM:618063
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Erythermalgia, Primary
Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation OMIM:133020
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Impaired T cell function, Minimal change glomerulon... ORPHA:1830
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal tricuspid valve morphology, Anemia, Duode... ORPHA:3405
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... OMIM:241530
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Chronic noninfectious lymphadenopathy, Poor appetite, Anorexia... ORPHA:100075
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Classic Galactosemia
Hepatomegaly, Ataxia, Hypoglycemia, Abnormal erythrocyte enzyme level, Jaundice, Osteoporosis, De... ORPHA:79239
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Peritonitis, Hypoalbuminemia ORPHA:656
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Hy... OMIM:619055
Mirage Syndrome
Hyponatremia, Hypoglycemia, Thrombocytopenia, Esophageal stricture, Radial club hand, Hyperkalemi... OMIM:617053
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Obesity, Feeding difficulties OMIM:620270
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... OMIM:616037
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arthritis, Leu... ORPHA:536
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Atri... OMIM:270400
Wilson Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Hepatitis, Increas... ORPHA:905
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Brunner Syndrome
Diarrhea OMIM:300615
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Immunodeficiency 77
Chronic pulmonary obstruction, Gastroparesis, Bronchiectasis, Cutaneous abscess OMIM:619223
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Cardio... OMIM:251000
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lym... ORPHA:139402
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... OMIM:300257
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Anterior concavity of thoracic vertebrae, Limb ataxia, Persistence of hemoglobi... OMIM:617101
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Renpenning Syndrome
High, narrow palate, Cachexia, Anal atresia, Cleft palate ORPHA:3242
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Portal i... OMIM:602347
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased ... OMIM:127550
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Diab... ORPHA:97280
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventri... ORPHA:581
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumat... ORPHA:589
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Diarrh... OMIM:619849
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, ... OMIM:617156
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... OMIM:615710
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Edema, Cough, Myocarditis, Xerostomia, Abn... ORPHA:81
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Hepatic bridging fibrosis, Splenomegaly, Diarrhea, Intrahepatic ... OMIM:613812
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Flexion contracture, Knee flexion contracture, High pala... OMIM:619503
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Diarrhea, Weight loss, Failure to thrive, Anemia ORPHA:1842
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... OMIM:617872
Abetalipoproteinemia
Abetalipoproteinemia, Fat malabsorption, Ataxia, Acanthocytosis OMIM:200100
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Osteomalacia, Malabsorption, Intrahepatic cholestasis, Rickets, Hypop... OMIM:227810
Desminopathy
Thoracic kyphoscoliosis, Sudden cardiac death, Supraventricular arrhythmia, Spinal rigidity, Cong... ORPHA:98909
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... ORPHA:371364
Cog4-Cdg
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Hepatosplenom... ORPHA:263501
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Leptospirosis
Hepatomegaly, Pericarditis, Anorexia, First degree atrioventricular block, Jaundice, Hepatitis, R... ORPHA:509
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... OMIM:619708
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Cleft palate OMIM:300946
Mcdonough Syndrome
Cachexia ORPHA:2471
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Noonan Syndrome 12
Ventricular septal defect, Tetralogy of Fallot, Spinal canal stenosis, Anteriorly placed anus, Ly... OMIM:618624
Tyrosinemia Type 1
Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab... ORPHA:760
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Chronic pulmonary obstru... ORPHA:411703
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic a... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic a... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic a... OMIM:612926
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Recurrent otitis medi... OMIM:617475
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Hypoalbuminemia, Smooth tongue, Anemia ORPHA:79396
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Eosinophilic infiltration of the esophagus, Malabsorption, Multiple muscular ventricular septal d... OMIM:615508
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Malabsorption... ORPHA:97282
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Leukopenia, Hepatic fibros... OMIM:613989
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Palpebral edema, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Esophagitis ORPHA:79350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Kyphoscoliosis, Abnormal fear-ind... ORPHA:3077
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Digeorge Syndrome
Pilonidal sinus, Ventricular septal defect, Intervertebral disc degeneration, Thrombocytopenia, S... OMIM:188400
Chronic Myeloid Leukemia
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... ORPHA:521
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... ORPHA:97214
Familial Isolated Hypoparathyroidism
Arrhythmia, Hypocalcemia ORPHA:2238
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Perit... OMIM:249100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Dila... OMIM:618120
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High palate, Decreased b... OMIM:607906
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, D... OMIM:620005
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Catastrophic Antiphospholipid Syndrome
Myocarditis, Arthritis, Gastrointestinal infarctions, Coombs-positive hemolytic anemia, Microangi... ORPHA:464343
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal ... ORPHA:103907
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Diarrhea, Anorexia, Megaloblastic anemia ORPHA:49827
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Decreased circulating complement C3 concentration, Microangiopathic hemolytic a... OMIM:612925
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Diab... ORPHA:97283
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdominal pain, Lac... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdominal pain, Lac... ORPHA:100082
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pai... ORPHA:91500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Galactokinase Deficiency
Psychomotor deterioration, Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Incr... ORPHA:79237
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Dubowitz Syndrome
Short attention span, Hyperactivity, Sacral dimple, Aplastic anemia, Velopharyngeal insufficiency... OMIM:223370
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, High palate,... OMIM:269920
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Feeding difficulties, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Complete atrioventricular canal defect, Kyphosis, Gait ataxia... ORPHA:476126
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia, Cerebral edema OMIM:608033
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Abdominal pain, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight l... ORPHA:520
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Hyperhidrosis, Gastrointestinal inflammation, Enamel hypopl... ORPHA:79406
Nijmegen Breakage Syndrome
Anal stenosis, Sinusitis, Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, Di... OMIM:251260
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Atrioventricular block, Glucose intolerance, Joint contracture of the... OMIM:614407
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Abdominal pain, Increased ... ORPHA:244242
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Broad-based gait, Diabetes mellitus, Ataxia, Insulin resistance, Dilated cardiomyopa... OMIM:616541
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hype... OMIM:613845
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Attrv30M Amyloidosis
Diarrhea, Weight loss, Constipation, Cardiomegaly ORPHA:85447
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S... ORPHA:32960
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... ORPHA:2363
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Card... ORPHA:365
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Leukopenia, Vomiting, Hepatomegaly, Hepatosplenomegaly, Decreased c... ORPHA:470
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Large for gestational age, Protuberant abdomen, Intestinal polyp, Decreased ... ORPHA:457485
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circula... OMIM:210900
Necrotizing Enterocolitis
Hyponatremia, Shock, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Abnormal ... ORPHA:391673
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Joint hypermobility, Pancre... OMIM:617052
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Atria... ORPHA:124
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Weight loss, Lymphocytic interstitial pneumonia, Abnormal proportion... ORPHA:133
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cachexia, High palate, Narrow palate OMIM:618186
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... ORPHA:2575
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Feeding difficulties in infancy, Decreased circulating antibody level, High palate,... OMIM:606056
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Gastroesophageal reflux, Compulsive behaviors, Abnormal repetitive mannerisms, Hyp... ORPHA:534
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Abdominal pain, Circulating immune co... ORPHA:91138
Kikuchi-Fujimoto Disease
Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Ele... ORPHA:50918
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, Bronchiolitis ... OMIM:615518
Nijmegen Breakage Syndrome
Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Chronic... ORPHA:647
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Poems Syndrome
Lymphadenopathy, Weight loss, Increased circulating antibody level, Thrombocytosis, Ascites, Poly... ORPHA:2905
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, C... ORPHA:52417
B4Galt1-Cdg
Hepatomegaly, Inflammatory abnormality of the skin, Small for gestational age, Splenomegaly, Diar... ORPHA:79332
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Atrioventricular val... ORPHA:3282
Bronchial Neuroendocrine Tumor
Pneumonia, Anorexia, Elevated circulating growth hormone concentration, Poor appetite, Bowel urge... ORPHA:97287
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Rickets, Glycosuria, Hypophosphatemia OMIM:616026
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus, Constipation, Cachexia ORPHA:52503
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural killer cell count OMIM:609981
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Kasabach-Merritt Syndrome
Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Abnormal lymphatic vesse... ORPHA:2330
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Respiratory insufficiency due to muscle weakness, Diarrhea, ... ORPHA:228371
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Glycosuria, Hypertension, Hypophosphatemia OMIM:618913
Fanconi Anemia, Complementation Group B
Aplastic anemia, Ventricular septal defect, Short neck, Esophageal atresia, Tracheoesophageal fis... OMIM:300514
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Respiratory insufficiency, Constipatio... ORPHA:1267
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Bradykinesia, Steppage gait, Increased total iron binding capaci... OMIM:613280
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Recurrent respiratory infections, Absent nipple, Conical tooth, Xerostomia, Rhinitis,... OMIM:614941
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Ovoid vertebral bodies, ... OMIM:260400
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Gastroparesis, Fee... ORPHA:79329
Congenital Factor Xiii Deficiency
Epistaxis, Inflammation of the large intestine, Hepatic failure, Gingival bleeding ORPHA:331
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia ORPHA:884
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Severe periodontitis, Small for gestational age, Protruding tongue, K... ORPHA:99843
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de... OMIM:619534
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Peptic ulcer, Osteomalacia, Hypermagnesemia, Depression, Hypophosphatemia, Pancrea... OMIM:600740
Vici Syndrome
Lymphopenia, Failure to thrive, Decreased circulating IgG2 level, Decreased proportion of CD4-pos... OMIM:242840
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Premature loss of primary teeth, Ca... ORPHA:2908
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity ORPHA:66628
Iatrogenic Botulism
Dyspnea, Constipation, Xerostomia, Dysphagia ORPHA:254509
Velocardiofacial Syndrome
Ventricular septal defect, Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft har... OMIM:192430
8P11.2 Deletion Syndrome
Hemolytic anemia, Splenomegaly, Spherocytosis, Feeding difficulties, High palate ORPHA:251066
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Anorexia, Abdominal pain, Lac... ORPHA:100080
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Gastrointestinal inflammation, Oral mucosal blisters ORPHA:79405
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h... ORPHA:79240
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphat... OMIM:156400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Ventricular septal defect, Bicuspid aortic valve, Osteolysis involving bones of the u... ORPHA:371428
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Glycosuri... ORPHA:411634
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Retrobulbar optic ne... ORPHA:1451
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Villous atrophy, Anorexia,... OMIM:557000
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Chronic neutropenia, Diarrhea, Hepatocellular adenoma, Enterocol... ORPHA:79259
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha... ORPHA:79477
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Spinal canal s... OMIM:307800
Alg8-Cdg
Abnormality of the gastrointestinal tract, Failure to thrive, Small for gestational age, Thromboc... ORPHA:79325
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Weight loss, Pancreatitis ORPHA:188
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy ORPHA:50251
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Pyloric stenosis, Hyperammonemia ORPHA:664
Galloway-Mowat Syndrome 1
Ataxia, Hiatus hernia, High palate, Hypoalbuminemia, Camptodactyly, Joint contracture of the hand OMIM:251300
Inhalational Botulism
Nausea and vomiting, Dyspnea, Diarrhea, Xerostomia, Constipation ORPHA:254504
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Malabsorption, Abdominal pain OMIM:222900
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Reynolds Syndrome
Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Respiratory insufficiency, Arthritis, ... ORPHA:779
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Lymphadenopathy, Weight loss, Macroglossia, Glossitis ORPHA:2221
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... OMIM:142680
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... ORPHA:33577
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Hypophosphatemia, Glycosuria OMIM:613388
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... OMIM:244400
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Lymphedema, Biliary tract neoplasm, Dyspnea, Bronchi... ORPHA:662
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Membranoproliferative glomerulonephritis, Para... ORPHA:329918
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Obesity ORPHA:179494
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Nail-biting, Broad-based gait, Ventricular septal defect, Aggressive behavior, Shor... OMIM:620330
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Thymic Neuroendocrine Tumor
Osteopenia, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet cell adenoma, ... ORPHA:97289
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Athetosis... ORPHA:369929
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Neutro... OMIM:617827
Plague
Respiratory distress, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphad... ORPHA:707
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Edema, Polyhydramnios, C... ORPHA:98905
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Weight loss, Acholic s... ORPHA:65682
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Recurrent respiratory infections, Absence of Stensen duct, Decreased response to growth hormone s... OMIM:129900
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bro... OMIM:614868
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis OMIM:608885
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Lysinuric Protein Intolerance
Hepatomegaly, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Pancreatitis, Thrombocytop... OMIM:222700
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Athetosis, Hypokalemia, Hypertension, Secon... OMIM:615474
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... OMIM:616812
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Anemia, Decreased circulating complement C3 concentration, Decreased c... ORPHA:90060
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Lacrimal gland hypoplasia, Xerostomia, Lacrimal gland aplasia OMIM:180920
Fanconi Anemia, Complementation Group F
Sacral dimple, Anemia, Leukopenia, Bone marrow hypocellularity, Atrial septal defect, Thrombocyto... OMIM:603467
Galloway-Mowat Syndrome 3
Hiatus hernia, Hypertension, High palate, Hypoalbuminemia, Camptodactyly OMIM:617729
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Bowel incontinence ORPHA:702
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Kyphosis, Dilated cardiomyopathy, Mitral regurgitation, Increased mean... ORPHA:261250
Infant Botulism
Bowel incontinence, Anorexia, Abdominal pain, Respiratory insufficiency due to muscle weakness, D... ORPHA:178478
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Anal... OMIM:250250
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Diabetes mellitus, Progressive neurologic deterioration, Oral-pharyng... OMIM:219800
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Autoimmune ... ORPHA:324636
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ... ORPHA:79303
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Ataxia, Third degree atrioventricular block ORPHA:480
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Malabsorption, Carious teeth, Dyspnea, Xerostomia, Arthritis, Gastroesophage... ORPHA:220393
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pa... ORPHA:1414
Tuberculosis
Weight loss ORPHA:3389
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Abn... OMIM:214500
Cutaneous Mastocytoma
Maculopapular exanthema, Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea ORPHA:79455
Schimke Immunoosseous Dysplasia
Waddling gait, Osteopenia, Pancytopenia, Lumbar hyperlordosis, Transient ischemic attack, Ovoid v... OMIM:242900
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... OMIM:301080
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive p... OMIM:612852
Subcorneal Pustular Dermatosis
Pustule, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Abdominal pain, Diarrhea, Weight loss, Failure to thrive, Anemia OMIM:256700
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Constipation, Gastroesopha... ORPHA:813
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo... ORPHA:94080
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Charge Syndrome
Secundum atrial septal defect, Hemivertebrae, Hypocalcemia, Atrial septal defect, Aplasia/Hypopla... OMIM:214800
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Eczema, Abnormality of the dentition, Xerostomia, Hypohidr... ORPHA:238468
Acquired Methemoglobinemia
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Cystic Fibrosis
Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Re... OMIM:219700
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria OMIM:134600
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Diarrhea, Cardiomegaly OMIM:252920
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Neoplas... ORPHA:252183
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Splenomegaly, Macrocytic anemia, Failure to thrive OMIM:619046
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Hypertension, Agitati... ORPHA:134
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Oslam Syndrome
Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Kilquist Syndrome
Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teeth, Wide mouth, Chronic ... OMIM:619080
Herpes Simplex Virus Encephalitis
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... ORPHA:1930
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Esophageal var... ORPHA:2072
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Tachypnea, Gastroesophageal reflux, Respiratory arrest, Episodic vomiting OMIM:201475
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Crackles, Abdominal distention, Atelectasis, Chronic diarrhea, Dyspnea,... OMIM:620233
Vici Syndrome
Decreased circulating IgG level, Feeding difficulties in infancy, Feeding difficulties, High pala... ORPHA:1493
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout, Inflammation of the large int... OMIM:232220
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Thro... OMIM:606003
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612287
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic... ORPHA:100078
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic ... OMIM:214900
Pediatric-Onset Graves Disease
Nausea and vomiting, Episcleritis, Hepatomegaly, Keratitis, Splenomegaly, Diarrhea, Jaundice, Neu... ORPHA:525731
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Hypophosphatemia OMIM:308990
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Camurati-Engelmann Disease
Hepatomegaly, Anorexia, Cachexia, Feeding difficulties in infancy, Splenomegaly, Leukopenia, Slen... ORPHA:1328
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Abdo... ORPHA:342
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Vomiting, Gastroesophageal r... ORPHA:206436
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Hypophosphatemia, Sp... OMIM:300009
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se... OMIM:604292
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... ORPHA:227990
Hypercalcemia, Infantile, 1
Lethargy, Hypercalcemia OMIM:143880
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility ORPHA:2582
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocystinemia, Neutropenia, Le... ORPHA:79282
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Intestinal malrotation, Camptodactyly of finger, Joint stiffness, Flex... ORPHA:115
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Agammaglobulinemia, Lymphopeni... ORPHA:935
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... ORPHA:1018
Rett Syndrome
Constipation, Gastroesophageal reflux, Cachexia OMIM:312750
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Hypercalcemia, Fractures of the long bones, Osteolysis, ... OMIM:602080
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Intestinal malrotation, Ovoid vertebral bodies, High palate, Hypochole... OMIM:244450
Orofaciodigital Syndrome Ix
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palat... OMIM:258865
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomitin... ORPHA:927
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Abnormality of the tongue, Aspiration pneumonia, Dysphagia ORPHA:216866
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia OMIM:612286
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... OMIM:619608
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Protruding tongue, Feeding difficulties, Decreased circulating antibody level,... OMIM:617062
Medullary Thyroid Carcinoma
Diarrhea, Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy, Dysphagia ORPHA:1332
Xfe Progeroid Syndrome
Hypertension, Hypoalbuminemia, Scoliosis OMIM:610965
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly OMIM:617068
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Joint laxity, Diabetes mellitus, Ventricular septal defect, In... OMIM:243800
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Cleft palate, Ch... ORPHA:2314
Congenital-Onset Steinert Myotonic Dystrophy
Bradyphrenia, Short attention span, Hyperactivity, Bundle branch block, First degree atrioventric... ORPHA:589821
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... OMIM:115197
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia OMIM:612300
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Transient hyperlipidemia, Arrhythmia, Lethargy,... ORPHA:156
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Lethar... ORPHA:447
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy... ORPHA:77261
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia ORPHA:57
Adiposis Dolorosa
Recurrent skin infections, Diarrhea, Xerostomia, Arthritis, Constipation, Hypothyroidism ORPHA:36397
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Erythematous oral mucosa, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous... OMIM:158310
Feingold Syndrome
Abnormality of the spleen, Esophageal atresia, Abnormal form of the vertebral bodies, Annular pan... ORPHA:1305
Takayasu Arteritis
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ... ORPHA:3287
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno... ORPHA:85414
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Lcat Deficiency
Hemolytic anemia ORPHA:650
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short neck, Microcytic anemia, Flexion contracture, High palate, HbH hemoglobin ORPHA:98791
Williams Syndrome
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial... ORPHA:904
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Failure to thrive OMIM:228000
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased s... ORPHA:79277
Postorgasmic Illness Syndrome
Xerostomia, Hyperhidrosis ORPHA:279947
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Glomerulonephritis, Abdominal pain, Intestinal perforation... ORPHA:90068
Hereditary Fructose Intolerance
Hepatomegaly, Reactive hypoglycemia, Jaundice, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, ... ORPHA:469
Psoriasis 14, Pustular
Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, O... OMIM:614204
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia, Feeding difficulties ORPHA:217346
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Uveitis, Arthritis, Conjunct... ORPHA:575
Glycogen Storage Disease Ic
Hepatoblastoma, Chronic pancreatitis, Recurrent upper respiratory tract infections, Gout, Inflamm... OMIM:232240
Esophageal Atresia
Respiratory distress, Bronchitis, Polyhydramnios, Feeding difficulties in infancy, Gastrointestin... ORPHA:1199
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... ORPHA:227982
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Yellow Fever
Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Neutrophilia, A... ORPHA:99829
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Sarcoidosis
Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopenia, Hemolytic anemia, Hepa... ORPHA:797
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Ne... OMIM:619418
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre... ORPHA:230
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Ataxia, Elevated hemoglobin A1c, Hypoglycemia OMIM:616113
Immunodeficiency 12
Skin rash, Esophageal stricture, Bronchiectasis, Cheilitis, Recurrent aphthous stomatitis, Recurr... OMIM:615468
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... OMIM:618372
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon... ORPHA:244
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Lujo Hemorrhagic Fever
Shock, Stiff neck, Confusion, Elevated circulating C-reactive protein concentration, Myocarditis,... ORPHA:319213
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... OMIM:613027
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... ORPHA:90291
Immunodeficiency 9
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... OMIM:612782
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Diarrhea, Hepatomegaly OMIM:252900
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Failure to thrive, Diarrhea, Neutropenia, High palate, Steatorrh... OMIM:617941
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia OMIM:616457
Roifman-Chitayat Syndrome
Arthritis, Thin lower lip vermilion, Pneumonia OMIM:613328
Complement Component 5 Deficiency
Intractable diarrhea, Decreased circulating complement C5 concentration, Reduced hemolytic comple... OMIM:609536
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Dpm1-Cdg
Hepatomegaly, High, narrow palate, Diarrhea, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr... ORPHA:79322
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Feeding difficulties in... ORPHA:314655
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Shortened ... ORPHA:79102
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Hyp... ORPHA:228119
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia ORPHA:1302
Netherton Syndrome
Skin rash, Eczema, Malabsorption, Increased circulating IgE level, Decreased circulating antibody... ORPHA:634
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Chronic decreased circulating IgG1 OMIM:300953
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Prune Belly Syndrome
Cryptorchidism, Xerostomia, Anal atresia, Oligohydramnios OMIM:100100
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated he... OMIM:617253
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... ORPHA:454831
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Conjunc... OMIM:263700
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level ORPHA:90368
Amyloidosis, Familial Visceral
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly OMIM:105200
Cranioectodermal Dysplasia 1
Joint laxity, Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, Sagi... OMIM:218330
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Obesity ORPHA:3409
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... OMIM:619463
Jacobsen Syndrome
Ventricular septal defect, Intestinal malrotation, Short neck, Pyloric stenosis, Annular pancreas... ORPHA:2308
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... OMIM:619227
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, J... ORPHA:392
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Persistence of hemoglobin F, Increased size of nasophar... OMIM:619769
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Abnormal lymph node morphology, Weight ... ORPHA:677
Monosomy 13Q34
Hypercalcemia, Epistaxis, Insulin resistance, Hematochezia, Pulmonic stenosis, Common atrium, Hep... ORPHA:96168
Multiple Endocrine Neoplasia Type 1
Anorexia, Reduced bone mineral density, Zollinger-Ellison syndrome, Gastroesophageal reflux, Leth... ORPHA:652
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Vertebral segmentation defect, Aplasia of the thymus, Duodenal atresia ORPHA:3004
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Confusion, Myocardial infarction, Jaundice, Schistocy... OMIM:274150
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Malabsorption, Spleno... ORPHA:379
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Leukocytosis, ... ORPHA:20
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... OMIM:620296
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Ischemic stroke, Mental deterioration, ... OMIM:182410
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Irritability, Scoliosis, Lymphopenia, Abnorma... ORPHA:391307
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Dysphagia, Hyperhidrosis, Aspiration pneumonia, Tube feeding ORPHA:79264
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Elevated circulating a... OMIM:276700
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties i... OMIM:253260
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Cognitive impairment, Hypopho... ORPHA:411629
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Distal Renal Tubular Acidosis
Hemolytic anemia, Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive ORPHA:18
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Joint hypermobility, Craniosynostosis, High, nar... ORPHA:369837
Fanconi Anemia, Complementation Group W
Polysplenia, Duodenal atresia OMIM:617784
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic... ORPHA:731
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect, Intestinal malrotation, Gastrointestinal dysmotility, Unsteady gait, I... OMIM:617798
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Diarrhea, Dysphagia OMIM:252930
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism ORPHA:567546
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cleft palate, Hypocalcemia, Atrial septal defect OMIM:300712
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Perio... ORPHA:79242
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Enteric Anendocrinosis
Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting ORPHA:83620
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... OMIM:265380
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Keratoconjunc... OMIM:601675
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Stevens-Johnson Syndrome
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abnormality of neutrophi... ORPHA:36426
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Depression, Sel... ORPHA:847
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Cleft palate, Abnormal heart morphology, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Japanese Encephalitis
Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Vomiting, Incr... ORPHA:79139
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Oral-pharyngeal dysphag... OMIM:616878
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, Vomiting, Failure to thri... OMIM:212140
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Macrogl... OMIM:248500
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Thrombocytopenia ORPHA:449285
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... ORPHA:533
Nocardiosis
Respiratory distress, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting, Emp... ORPHA:31204
Amyotrophic Lateral Sclerosis
Nausea and vomiting, Dyspnea, Xerostomia, Abnormal respiratory system physiology, Respiratory fai... ORPHA:803
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding ORPHA:289504
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... ORPHA:542323
Acitretin/Etretinate Embryopathy
Conotruncal defect, High palate, Hypoplasia of the thymus, Bradycardia, Third degree atrioventric... ORPHA:40366
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Grfoma
Poor appetite, Anorexia, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Shortened QT interval, Osteoporosis, Hypo... ORPHA:99880
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, Hy... OMIM:229600
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Abdominal pain, Bi... ORPHA:567983
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Ppoma
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97278
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Decreased response to growth hormone stimulation test, Poor appetite, Feeding di... ORPHA:96182
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Lymphadenopathy, Hepatos... ORPHA:85408
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P... OMIM:131100
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Osteomyelitis, Edema, Pulmonary embolism, Increased pulmonary vascular re... ORPHA:70591
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Shortened QT interval, Osteoporosis, Hypo... ORPHA:143
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Hemolytic anemia, Splenomegaly, Keratoconjunctivitis, Scleri... ORPHA:95159
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Bloody diarrhea, Feeding difficulties OMIM:615119
Geleophysic Dysplasia 3
Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Thick vermilion border, Long philtrum OMIM:617809
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia ORPHA:88
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Viss Syndrome
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... OMIM:619472
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Diarrhea, Atopic dermatitis, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia ORPHA:3240
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Huntington Disease-Like 2
Weight loss ORPHA:98934
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Glucose intolerance, Gas... OMIM:194050
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Opsismodysplasia
Short neck, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Scoliosis, Hypophos... OMIM:258480
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... ORPHA:3132
Alpha-Mannosidosis, Adult Form
Macroglossia, Pneumonia, Recurrent gastroenteritis ORPHA:309288
Pmm2-Cdg
Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Ataxia, Angina pectoris, Kyp... ORPHA:79318
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Hypercholanemia, Familial 1
Fat malabsorption, Rickets, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Combined Oxidative Phosphorylation Deficiency 25
Feeding difficulties, Chronic constipation, Aspiration pneumonia, Long philtrum, Smooth philtrum OMIM:616430
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Thrombocytopenia, Feeding difficulties, Gastroesophageal reflux, Prot... OMIM:230900
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Scrub Typhus
Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Lymp... ORPHA:83317
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridocyclitis, Diarrhea, C... OMIM:240300
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Intrahepatic cholestasis, High palate, Hepatic fail... OMIM:606812
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Cryptorchidism, Decreased testicular size ORPHA:1867
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly ORPHA:168577
Fabry Disease
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Left ventricular hypertrophy, Nausea, Anemia OMIM:301500
Farber Disease
Failure to thrive, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Chronic dia... ORPHA:333
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... ORPHA:35710
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... ORPHA:70
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm... ORPHA:729
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Ascites ORPHA:168811
Dent Disease
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Recurre... ORPHA:1652
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Abnormality of the cervical spine, Ventricular septal defect, Ankle flexion... ORPHA:464311
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Abdominal distentio... ORPHA:436252
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Pelvic mass, Anorexia, Abdominal distention, Jaund... ORPHA:370348
Nephroblastoma
Neoplasm of the liver, Abdominal pain, Weight loss, Lymphadenopathy ORPHA:654
Angioedema, Hereditary, 1
Intestinal edema, Abdominal pain, Diarrhea, Reduced hemolytic complement activity, Vomiting, Decr... OMIM:106100
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, ... OMIM:612132
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... OMIM:612541
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Recurrent pneumonia, Hepatos... OMIM:309900
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Skin rash ORPHA:29822
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Xerostomia, Feeding difficulties, Widely spaced teeth, Enamel hypoplasia OMIM:620193
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia OMIM:145001
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Kyphoscoliosis, Protruding tongue, Abnormal repetitive mannerisms, Kyp... OMIM:301040
Scleromyxedema
Abnormality of the gastrointestinal tract, Hypoperistalsis, Paraproteinemia, Gastroesophageal ref... ORPHA:167635
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Hepatomegaly, Abdominal colic, Functional intestinal obstruction, Chronic no... ORPHA:100079
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Raynaud phenomenon, Increased ... OMIM:607944
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Intellectual Developmental Disorder, Autosomal Dominant 51
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Failure to ... OMIM:617788
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
X-Linked Intellectual Disability, Cabezas Type
High palate, Obesity, Cachexia ORPHA:85293
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Raine Syndrome
Increased bone mineral density, Protruding tongue, Short neck, Cleft palate, Subperiosteal bone f... OMIM:259775
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Interstitial pneumonitis, Respi... ORPHA:330021
Encephalitis Lethargica
Increased circulating antibody level, Bowel incontinence ORPHA:83600
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Hyperbilirubinemia, Cirrhosis... ORPHA:79302
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126840
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Hypercalcemia, Peptic ulcer,... ORPHA:913
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction... ORPHA:183
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... ORPHA:109
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Carcinoid Syndrome
Nausea and vomiting, Chronic noninfectious lymphadenopathy, Lack of bowel sounds, Hepatic necrosi... ORPHA:100093
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Lymphadenop... ORPHA:99978
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Xerostomia, Hypohidrosis, Keratoconjunctivitis sicca, Constipation ORPHA:43393
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Cervical lymphadenopat... ORPHA:2331
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Abdominal pain, Feeding difficulties in infancy, Splen... ORPHA:355
Distal Deletion 12Q
Hyperactivity, Diabetes mellitus, Maturity-onset diabetes of the young, Short neck, Kyphoscoliosi... ORPHA:96149
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Recurrent ... ORPHA:171876
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... ORPHA:100086
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ataxia, Ventricular septal defect, Progressive neurologic deterio... OMIM:614947
Mosaic Variegated Aneuploidy Syndrome 1
Short neck, Cleft palate, Pulmonic stenosis, Atrial septal defect, Leukemia, Duodenal atresia OMIM:257300
Fg Syndrome Type 1
Limited elbow extension and supination, Broad-based gait, Sacral dimple, Progressive flexion cont... ORPHA:93932
Multiple Endocrine Neoplasia Type 2
Joint laxity, Aganglionic megacolon, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, Cervical lymph... ORPHA:653
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Abdominal pain, Cardiomegaly, Splenomegaly... ORPHA:465508
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Small intestinal dysmotility, Apnea, Feeding difficulties, Hypopnea, Chronic con... OMIM:619482
Icf Syndrome
Abnormality of neutrophils, Protruding tongue, Malabsorption, Macroglossia, Lymphopenia, Anemia ORPHA:2268
Localized Scleroderma
Fasciitis, Abnormality of the dentition, Abnormality on pulmonary function testing, Dental malocc... ORPHA:90289
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting OMIM:264350
Pituitary Apoplexy
Hyponatremia, Hypoglycemia, Confusion, Hypertension, Increased circulating cortisol level, Normoc... ORPHA:95613
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Abnormality of the cervical spine, Hyperactivity, Multiple joint contractur... ORPHA:464306
Aa Amyloidosis
Hepatomegaly, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Cholestasis, Vomitin... ORPHA:85445
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Absence of the sacrum, Right atrial isomerism, Ventricular septal def... OMIM:270100
Anaplastic Thyroid Carcinoma
Weight loss, Tracheoesophageal fistula, Dysphagia, Lymphadenopathy ORPHA:142
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Fryns Syndrome
Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati... OMIM:229850
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo... ORPHA:276621
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia, Anemia OMIM:618182
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Aortic regurgitation, Osteolysis, Cleft palate, Acute lymphoblastic leukemi... ORPHA:1052
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Diarrhea, Failure to thrive, Vomiting OMIM:560000
Reynolds Syndrome
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Jaundice... OMIM:613471
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Increased susceptibil... ORPHA:3337
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, Chronic constipation, High palate, Recurrent aspir... OMIM:300472
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Hepatic cysts, Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones,... OMIM:617425
Cystic Fibrosis
Recurrent respiratory infections, Sinusitis, Meconium ileus, Malabsorption, Reduced forced expira... ORPHA:586
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... OMIM:175200
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Short neck, Cleft palate, Abnormal cardiac septum ... ORPHA:2059
Chops Syndrome
Gastroparesis, High, narrow palate, Cryptorchidism, Anomalous pulmonary venous return, Downturned... OMIM:616368
Microscopic Polyangiitis
Nausea and vomiting, Episcleritis, Gastrointestinal hemorrhage, Sinusitis, Increased inflammatory... ORPHA:727
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hyperprolinemia Type 2
Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain ORPHA:79101
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Peptic ulcer, Insulinoma, Fasting hyperinsulinemia, Thymoma, Extrahepatic cholesta... ORPHA:276152
Myotonic Dystrophy 1
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Dysphagia, Cholelithias... OMIM:160900
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Duodenal atresia OMIM:243605
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Intestin... ORPHA:537
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Lyme Disease
Memory impairment, Arrhythmia, Atrioventricular block, Arthritis ORPHA:91546
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Hypermagnesemia, Hypercalcemia, Peptic ulcer OMIM:145981
Dextrocardia
Meckel diverticulum, Abnormal EKG, Dextrocardia, Intestinal malrotation, Situs inversus totalis, ... ORPHA:1666
Glutaric Aciduria Iii
Diarrhea, Failure to thrive, Vomiting OMIM:231690
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Short neck, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency an... ORPHA:261584
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Cryptorchidism, Deep philtrum, Pyloric stenosis, Pierre-Robin se... OMIM:617137
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Gm1 Gangliosidosis
Splenomegaly, Feeding difficulties, Hepatosplenomegaly, Macroglossia, Weight loss, Gastroesophage... ORPHA:354
Wild Type Attr Amyloidosis
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, In... ORPHA:330001
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly... OMIM:257220
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Ataxia, Confusion, Hypoglycemia, Jaundice, Hepatitis, Hyperam... ORPHA:90062
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... ORPHA:1546
Cushing Disease
Diabetes mellitus, Impaired glucose tolerance, Paradoxical increased cortisol secretion on dexame... ORPHA:96253
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Large for gestational age, Diarrhea, Increased body weight, Vomiting, Pancreatic is... ORPHA:263455
Meier-Gorlin Syndrome 7
Joint laxity, Anal stenosis, Ventricular septal defect, Sagittal craniosynostosis, Craniosynostos... OMIM:617063
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Microform Holoprosencephaly
Maternal diabetes, Cleft palate, Scoliosis, Tetralogy of Fallot, Duodenal atresia ORPHA:280200
Cockayne Syndrome
Hepatomegaly, Cachexia, Feeding difficulties in infancy, Splenomegaly, Keratoconjunctivitis sicca... ORPHA:191
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... ORPHA:508542
African Trypanosomiasis
Hepatomegaly, Pericarditis, Abnormal EKG, Akinesia, Aggressive behavior, Myocarditis, Splenomegal... ORPHA:3385
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Focal Dermal Hypoplasia
Coarse metaphyseal trabecularization, Ventricular septal defect, Camptodactyly of finger, Telangi... ORPHA:2092
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Ataxia, Splenomegaly, Ileus, Arthrogryposis multiplex congen... ORPHA:163746
Trisomy 18
Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia ORPHA:3380
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Spondyloenchondrodysplasia
Delayed eruption of teeth, Skin rash, Decreased response to growth hormone stimulation test, Pneu... ORPHA:1855
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Carious teeth, Keratitis, Feeding difficulties in in... ORPHA:1051
Monosomy 18Q
Failure to thrive, High palate, Slender build, Decreased circulating IgA level ORPHA:1600
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate OMIM:300215
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties OMIM:177735
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Erythrokeratodermia Variabilis
Skin rash, Weight loss ORPHA:317
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Feeding difficulties, Gastroesophageal reflux, Recurrent aspiratio... ORPHA:79243
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Eczema, Premature loss of primary teeth, Abnormality o... ORPHA:2907
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Osteomalacia, Hypermagnesemia, Pancreatitis,... ORPHA:405
Isaacs Syndrome
Weight loss ORPHA:84142
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Diarrhea, Feeding difficulties, Hepatic steatosis OMIM:255120
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Pneumonia, Cleft upper lip, Malrotation of c... OMIM:122470
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... ORPHA:2896
Hennekam-Beemer Syndrome
Pneumonia, Abdominal pain, Thick lower lip vermilion, Respiratory insufficiency, High palate, Vom... ORPHA:2135
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa mor... ORPHA:79404
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... ORPHA:95455
Spondyloocular Syndrome
Osteopenia, Duodenal ulcer, Unsteady gait, Mitral valve prolapse, Platyspondyly, Atrial septal de... OMIM:605822
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... ORPHA:30391
Sotos Syndrome
Flexion contracture, Gastroesophageal reflux, Atrial septal defect, Abnormal vertebral morphology... ORPHA:821
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea OMIM:176000
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Skin rash, Diarrhea, Vomiting, Left ventricular hypertrophy, Episodic vomiting OMIM:618321
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Behçet Disease
Myositis, Anorexia, Infectious encephalitis, Acne, Abdominal pain, Retrobulbar optic neuritis, Ly... ORPHA:117
Schwartz-Jampel Syndrome
Cachexia, Feeding difficulties in infancy, Cleft palate, High palate, Decreased body weight ORPHA:800
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea, Tachypnea, Pleural thicken... ORPHA:60025
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess,... OMIM:116920
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Anorexia, Pancreatoblastoma, Ne... ORPHA:99889
Meige Disease
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... ORPHA:90186
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Anorexia, Abdominal pain, Weight loss, A... ORPHA:732
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blo... ORPHA:29072
Sandhoff Disease
Hepatomegaly, Cardiomegaly, Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly, Macrog... OMIM:268800
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abdominal pain, Bronchie... ORPHA:99921
Congenital Myopathy 20
Failure to thrive, Chronic diarrhea, High palate OMIM:620310
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Allergic rhinitis, Impaired T cell function, Allergic conjunctivitis, ... OMIM:176690
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Follicular hyperplasia, Orchitis... ORPHA:556
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of neutrophils, Malabsor... ORPHA:1775
Rothmund-Thomson Syndrome
Skin rash, Aplastic anemia, Small for gestational age, Nasogastric tube feeding in infancy, Diarr... ORPHA:2909
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Cog8-Cdg
Ataxia, Protein-losing enteropathy, Hypoglycemia ORPHA:95428
Cockayne Syndrome Type 1
Hepatomegaly, Diarrhea, Uveitis, Conjunctivitis, Failure to thrive, Anemia ORPHA:90321
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Gastroesophageal reflux, Bradycardia OMIM:619814
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Low-to-normal bloo... OMIM:601678
Metachromatic Leukodystrophy
Ataxia, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Tip-toe gait, Ga... ORPHA:512
Acrodermatitis Enteropathica
Glossitis, Poor appetite, Anorexia, Pustule, Malabsorption, Chronic diarrhea, Cheilitis, Furrowed... ORPHA:37
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Craniosynostosis, Subvalvular aortic stenosis, A... OMIM:614114
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly, Diarrhea, Macroglossia, Dysphagia, Recurrent otitis media, Tube feeding OMIM:252940
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Dental crowding, Poor appetite, Hypercapnia, Respiratory insuff... ORPHA:2020
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive, Anemia OMIM:620358
Mednik Syndrome
Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain ... OMIM:609313
Lynch Syndrome
Intestinal polyposis, Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:144
Huntington Disease-Like 2
Weight loss OMIM:606438
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Reye syndrome-like episodes, Abdominal di... OMIM:256810
Melas
Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Recurrent pancreatitis, Vo... ORPHA:550
Familial Glucocorticoid Deficiency
Anorexia, Diarrhea, Episodic abdominal pain, Weight loss, Constipation, Vomiting, Failure to thrive ORPHA:361
Loeffler Endocarditis
Left ventricular hypertrophy, Pericarditis, Eosinophilia, Weight loss ORPHA:75566
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Vomiting, Macroorchidism ORPHA:90790
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Agel Amyloidosis
Tongue atrophy, Edema, Respiratory tract infection, Xerostomia, Keratoconjunctivitis sicca, Bleph... ORPHA:85448
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Left ventricular hypertrophy, Weight loss ORPHA:3208
Idiopathic Pulmonary Arterial Hypertension
Chronic hemolytic anemia, Right ventricular hypertrophy ORPHA:275766
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Kabuki Syndrome 1
Hemolytic anemia, Anal stenosis, Intestinal malrotation, Malabsorption, Feeding difficulties in i... OMIM:147920
Khan-Khan-Katsanis Syndrome
Sacral dimple, Tricuspid regurgitation, Neutropenia, Scoliosis, Dysphagia, Joint contracture, Lym... OMIM:618460
Prader-Willi Syndrome
Recurrent respiratory infections, Gastroparesis, Decreased response to growth hormone stimulation... ORPHA:739
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Ventricular septal defect, Furrowed tongue, High palate, Gastroesophageal r... OMIM:616975
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Dysphagia OMIM:606002
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis OMIM:617671
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Poor appetite, Erythroderma ORPHA:312
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Dysphagia ORPHA:52368
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Abnormality of the dentition, Perianal... ORPHA:2968
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Small for gestational age, Diarrhea, Functional abnormality of the gastrointesti... ORPHA:221008
Encephalopathy, Ethylmalonic
Failure to thrive, Chronic diarrhea, Feeding difficulties OMIM:602473
Hyperlipoproteinemia, Type I
Splenomegaly, Pancreatitis, Jaundice, Episodic abdominal pain, Hepatosplenomegaly, Vomiting, Nausea OMIM:238600
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Short hard palate, Anorexia ORPHA:1969
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... OMIM:214950
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Paraproteinemia ORPHA:439232
Familial Colorectal Cancer Type X
Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the panc... ORPHA:440437
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... OMIM:301068
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia OMIM:620072
Niemann-Pick Disease, Type C2
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Prolonged neonatal j... OMIM:607625
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Chronic diarrhea, Failure to thrive OMIM:619484
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Small for gestational age, Diarrhea, Functional abnormality of the gastrointesti... ORPHA:221016
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Diarrhea, Skin rash OMIM:601979
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Macular edema, Compensated hypothyroidism ORPHA:247691
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen... ORPHA:2538
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypertension, Hypophosphatemia OMIM:104200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Feeding difficulties in infancy, High palate, Gastroesophageal reflux... ORPHA:280633
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Tarp Syndrome
Broad-based gait, Extramedullary hematopoiesis, Cleft palate, Tongue nodules, Glossoptosis, Scoli... ORPHA:2886
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
9Q33.3Q34.11 Microdeletion Syndrome
Epistaxis, Cryptorchidism, Asthma, Tented philtrum, Dysphagia, Thin vermilion border, Constipatio... ORPHA:495818
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Duodenal ulcer OMIM:217090
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Nausea ORPHA:863
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Constipation, Aspiration pneumonia ORPHA:35069
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Copper accumulation in liver, Steatorrhea, Periportal fibrosis, Prolonged neona... OMIM:619481
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Seborrheic dermatitis, Alveolar ridge overgrowth, Gingival overgrowth,... OMIM:301072
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Normocytic anemia, Psoriasiform dermatitis, Deep dermal perivascular inflamm... ORPHA:49041
Turner Syndrome Due To Structural X Chromosome Anomalies
Hashimoto thyroiditis, Abnormality of the dentition, Celiac disease, High, narrow palate, Increas... ORPHA:99413
Mosaic Monosomy X
Hashimoto thyroiditis, Abnormality of the dentition, Celiac disease, High, narrow palate, Increas... ORPHA:99228
Monosomy X
Hashimoto thyroiditis, Abnormality of the dentition, Celiac disease, High, narrow palate, Increas... ORPHA:99226
Turner Syndrome
Hashimoto thyroiditis, Abnormality of the dentition, Celiac disease, High, narrow palate, Increas... ORPHA:881
Huntington Disease
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Cholestasis, Feeding difficulties, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, Hepatic fai... ORPHA:541423
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, High palate, De... OMIM:618268
Juvenile Huntington Disease
Weight loss ORPHA:248111
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Median cleft lip, Decreased response to growth hormone stimu... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Median cleft lip, Decreased response to growth hormone stimu... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Median cleft lip, Decreased response to growth hormone stimu... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Median cleft lip, Decreased response to growth hormone stimu... ORPHA:93924
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis OMIM:608654
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... ORPHA:2176
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain ORPHA:69078
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Feeding difficulties in infancy, Diarrhea, Lipid accumulation in hepa... OMIM:608836
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Gm1 Gangliosidosis Type 1
Gingival overgrowth, Hydrops fetalis, Feeding difficulties, Macroglossia, Aspiration pneumonia, L... ORPHA:79255
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Chronic diarrhea, Chronic constipation, High pa... OMIM:619005
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Camptodactyly of finger, Ankle flexion contracture, Craniosynostosis... ORPHA:468631
Pyomyositis
Leukocytosis, Recurrent cutaneous abscess formation, Myositis, Weight loss ORPHA:764
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failu... ORPHA:79351
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Gastroesophageal reflux, Compu... ORPHA:353281
Miller-Dieker Lissencephaly Syndrome
Sacral dimple, Cleft palate, Abnormal heart morphology, Camptodactyly, Joint contracture of the h... OMIM:247200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Hepatic necrosis, Vomiting, Fai... ORPHA:71212
Stickler Syndrome
Slender build, Cachexia, Feeding difficulties in infancy, Osteoarthritis, Uveitis, Cleft palate, ... ORPHA:828
Hypocalciuric Hypercalcemia, Familial, Type I
Pancreatitis, Hypermagnesemia, Hypercalcemia OMIM:145980
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventr... OMIM:259900
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation, Cardiomegaly OMIM:105210
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea OMIM:615084
Eec Syndrome
Decreased response to growth hormone stimulation test, Abnormal dental enamel morphology, Carious... ORPHA:1896
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Giant Cell Arteritis
Pericarditis, Anorexia, Abdominal pain, Mediastinal lymphadenopathy, Weight loss, Arthritis, Gast... ORPHA:397
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Weight loss, Abdominal pain ORPHA:767
Renal Nutcracker Syndrome
Weight loss, Nausea, Anemia, Abdominal pain ORPHA:71273
Malignant Atrophic Papulosis
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ... ORPHA:679
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, I... OMIM:600001
Amoebiasis Due To Free-Living Amoebae
Abnormality of taste sensation, Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Vomit... ORPHA:68
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Submucous cleft hard palate, Vertebral clefting, Cleft palate, Hypopla... OMIM:301043
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Meckel diverticulum, Aganglionic megacolon, Aplasia/H... ORPHA:84
Mowat-Wilson Syndrome
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Asplenia, Pyloric stenosis, Gas... ORPHA:2152
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestinal atresia, Multiple muscu... ORPHA:391641
Sim1-Related Prader-Willi-Like Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Cryptorchidism, Xerostomia, Central h... ORPHA:398079
Lissencephaly Due To Lis1 Mutation
Polyhydramnios, Aspiration pneumonia, Feeding difficulties ORPHA:95232
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... OMIM:618050
Focal Myositis
Myositis, Weight loss ORPHA:48918
Magel2-Related Prader-Willi-Like Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Cryptorchidism, Xerostomia, Central h... ORPHA:398069
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Feeding difficulties in infancy, Cryptorchidism, Cleft lip, Trache... ORPHA:2745
Proteus Syndrome
Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, ... ORPHA:744
Duodenal Atresia
Duodenal atresia OMIM:223400
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia OMIM:258360
Seckel Syndrome
Cachexia ORPHA:808
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Failure to thrive, Vomiting, Diarrhea OMIM:610768
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Thrombocytopenia, Bloody diarrh... ORPHA:464321
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Apnea, Bilateral cryptorchidism, Pyloric stenosis, Cryptorchidism,... OMIM:602535
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia OMIM:618527
Hurler Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Chronic diarrhea, Feeding difficulties, M... ORPHA:93473
Arterial Tortuosity Syndrome
Respiratory distress, Hiatus hernia, Pyloric stenosis, Myocarditis, Pulmonary artery stenosis, Dy... ORPHA:3342
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Malabsorption, Chronic diarrhea, Narrow palate,... OMIM:619004
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Pneumonia, Carious teeth, Recurrent upper respiratory tract infections... OMIM:253200
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... OMIM:608710
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Short neck, Hypoplasia of... OMIM:200995
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Meckel diverticulum, Ventricular septal defect, Eosinophilia, Pancreatic cysts... OMIM:274000
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Reye syndrome-like episodes, Diarrhea, Vomiting, Hepatic steatosis ORPHA:348
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Ataxia, Duodenal ulcer ORPHA:3350
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... ORPHA:2131
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Diarrhea, Crustin... ORPHA:324625
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix,... OMIM:263200
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Fatal Familial Insomnia
Weight loss, Constipation, Dysphagia OMIM:600072
Cysticercosis
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Granulomatosis With Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Intestinal obstruction... ORPHA:900
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Polyhydramnios, Downturned cor... ORPHA:79500
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Weight loss, Chronic... ORPHA:103918
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Retroperitoneal fibrosis, Weight l... ORPHA:35687
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Weight loss OMIM:275000
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Marfan Syndrome
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build ORPHA:558
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Third degree atr... OMIM:619636
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia, Feeding difficulties OMIM:619167
Dubowitz Syndrome
Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Rectal prolap... ORPHA:235
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Overweight, Chronic diarrhea, Chronic constipation, Gastroesopha... ORPHA:500055
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... ORPHA:100050
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the liver, Constipation ORPHA:2126
Degcags Syndrome
Polyhydramnios, Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Hiatus hernia, C... OMIM:619488
Huntington Disease-Like 1
Weight loss ORPHA:157941
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Abnormal heart morphology, Pa... ORPHA:2847
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Familial Hypoaldosteronism
Nausea and vomiting, Diarrhea, Failure to thrive, Feeding difficulties ORPHA:427
Coffin-Siris Syndrome 1
Joint laxity, Sacral dimple, Ventricular septal defect, Intestinal malrotation, Duodenal ulcer, A... OMIM:135900
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Splenomegaly, High, narrow palate, Increased circulating IgE level, Cleft palate, M... ORPHA:373
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatic hemangioma, Gastroesophageal reflux, Recurrent aspiration pneumonia, Dysphagia ORPHA:73230
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Cardiomegaly, Intrahepatic cholestasis, Chronic diarrhea, Hepatitis, Cleft palate, ... OMIM:614921
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Tracheomalacia, ... ORPHA:444077
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea OMIM:608643
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Diets-Jongmans Syndrome
Ventricular septal defect, Aggressive behavior, Attention deficit hyperactivity disorder, Joint h... OMIM:618846
Leopard Syndrome 1
Bundle branch block, Limited elbow movement, Short neck, Kyphoscoliosis, Complete atrioventricula... OMIM:151100
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Abnormal curvature of the vertebral column, High palate, Gastroesophageal ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Abnormal curvature of the vertebral column, High palate, Gastroesophageal ... ORPHA:353277
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation, Vomiting OMIM:223900
Mucolipidosis Type Ii
Splenomegaly, Hepatosplenomegaly, Weight loss, Protuberant abdomen, Otitis media, Left ventricula... ORPHA:576
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Abdominal pain, Weight loss, Neutropenia ORPHA:79430
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties ORPHA:221098
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal steno... ORPHA:141127
Perry Syndrome
Weight loss ORPHA:178509
Ogden Syndrome
Eczema, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, Jaundice, Narrow palate, Feedin... OMIM:300855
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Apnea, Supernumerary nipple, Tachypnea, Feeding difficulties, G... ORPHA:397715
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Thick lower lip vermilion, R... ORPHA:1465
Alpha-Mannosidosis, Infantile Form
Pneumonia, Macroglossia, Widely spaced teeth, Recurrent gastroenteritis, Otitis media ORPHA:309282
Arboleda-Tham Syndrome
Respiratory distress, Bilateral cryptorchidism, Downturned corners of mouth, Short philtrum, Conj... OMIM:616268
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea ORPHA:43116
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight loss, Arth... ORPHA:93672
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Hypoperistalsis, Perim... OMIM:611376
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Malnutrition, Decreased sweating due to autonomic dysfunction, Constipation, Aspirati... ORPHA:99027
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy,... ORPHA:500150
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive, Impaired platelet... OMIM:241200
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Fontaine Progeroid Syndrome
High, narrow palate, Anteriorly placed anus, Oligodontia, Gastroesophageal reflux, Microdontia, R... OMIM:612289
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Fasciitis, Osteomyelitis, Alveolar ridge overgrowth, Hyperhidrosis, Feeding difficult... ORPHA:642
Alg9-Cdg
Hepatomegaly, Villous atrophy, Hepatic cysts, Diarrhea, Periportal fibrosis, Gastroesophageal ref... ORPHA:79328
Iniencephaly
Hyperlordosis, Absent vertebra, Arthrogryposis multiplex congenita, Anal atresia, Duodenal atresia ORPHA:63259
Short Syndrome
Poor appetite, Weight loss ORPHA:3163
Osteosarcoma
Weight loss ORPHA:668
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Achalasia, Esophagitis, Feeding difficulties OMIM:615356
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Tay-Sachs Disease
Gastrostomy tube feeding in infancy, Aspiration pneumonia, Dysphagia ORPHA:845
Hypoplasminogenemia
Decreased level of plasminogen, Duodenal ulcer ORPHA:722
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Ventricular septal defect, Kyphosis, Malrotati... OMIM:194190
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint laxity, Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Hiatus herni... OMIM:601776
Occipital Horn Syndrome
Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Dysphagia, Gastroesophageal reflux,... ORPHA:198
Glycogen Storage Disease Ia
Hepatomegaly, Gout, Protuberant abdomen, Hepatocellular carcinoma, Intermittent diarrhea, Pancrea... OMIM:232200
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Menke-Hennekam Syndrome 2
Duodenal ulcer, Joint hypermobility OMIM:618333
Wiedemann-Rautenstrauch Syndrome
Delayed eruption of teeth, Natal tooth, Recurrent respiratory infections, Pneumonia, Cryptorchidi... OMIM:264090
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block, Platyspondyly ORPHA:93317
Cerebrotendinous Xanthomatosis
Cholelithiasis, Pseudobulbar paralysis, Diarrhea OMIM:213700
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous co... ORPHA:733
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Gardner Syndrome
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol... ORPHA:79665
Aspartylglucosaminuria
Hepatomegaly, Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Neutropenia OMIM:208400
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Simpson-Golabi-Behmel Syndrome, Type 1
Vertebral segmentation defect, Hepatoblastoma, Atrial septal defect, Hepatomegaly, Exaggerated me... OMIM:312870
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Adrenocortical Carcinoma
Weight loss, Increased body weight, Abdominal pain ORPHA:1501
8P23.1 Microdeletion Syndrome
High palate, Obesity, Weight loss ORPHA:251071
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Chronic diarrhea, Enlarged tonsils, Hepatosplenomegaly, Macroglossia, Arthritis, In... ORPHA:217085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Neoplasm of t... ORPHA:2241
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Weight loss, Dysphagia ORPHA:411602
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Chronic diarrhea, Enlarged tonsils, Hepatosplenomegaly, Macroglossia, Arthritis, In... ORPHA:217093
Perry Syndrome
Weight loss OMIM:168605
Niemann-Pick Disease Type C
Fetal ascites, Abnormal lung morphology, Hydrops fetalis, Respiratory insufficiency, Feeding diff... ORPHA:646
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Chronic diarrhea, Episodic vomiting, Obesity, Feeding difficulties, Truncal ... OMIM:615873
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Intestinal pseudo-obstruction, Dysphagia, Gastroparesis OMIM:607459
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Multiple joint contractures, Dextrocardia, Camptodactyly of ... ORPHA:1662
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia OMIM:175780
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Feeding difficulties in infancy, Myocarditis, Gastr... ORPHA:221
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... ORPHA:247806
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Tracheoesophageal fistula, Gastr... OMIM:107480
Choreoacanthocytosis
Hepatomegaly, Protruding tongue, Acanthocytosis, Splenomegaly, Abnormal erythrocyte enzyme level,... ORPHA:2388
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Peritonitis, Bidirectional shunt, Elevated pulmonary artery pressure, Microcolon OMIM:619351
Mucopolysaccharidosis Type 2
Hepatomegaly, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Macroglossia, Hip osteoarthritis ORPHA:580
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Deep philtrum, Abnormality of th... ORPHA:438213
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension OMIM:619431
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:167100
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Diarrhea, Feeding difficulties, Recurrent pancreatitis, Vomiting, Dysp... OMIM:606721
Familial Adenomatous Polyposis 1
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... OMIM:175100
Fraser Syndrome 1
Abnormal small intestine morphology, Cleft palate, Abnormal heart morphology, Abnormal thymus mor... OMIM:219000
Zttk Syndrome
Absent gallbladder, Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhe... OMIM:617140
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Scorpion Envenomation
Acute pancreatitis, Abdominal pain, Myocarditis, Diarrhea, Vomiting ORPHA:466677
Proximal Renal Tubular Acidosis
Diarrhea, Failure to thrive, Vomiting, Malabsorption ORPHA:47159
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... ORPHA:158668
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Intestinal malrotation, Biliary atresia, Feeding di... ORPHA:2255
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Nmda Receptor Encephalitis
Neoplasm of the thymus, Diarrhea, Vomiting ORPHA:217253
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
Oculopharyngodistal Myopathy 1
Weight loss, High palate, Dysphagia OMIM:164310
Yunis-Varon Syndrome
Thin upper lip vermilion, Absent nipple, Premature loss of primary teeth, Polyhydramnios, Pyloric... OMIM:216340
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Vomiting, Weight loss ORPHA:91347
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss ORPHA:99885
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Prolonged neonatal jaundice ORPHA:909
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Lafora Disease
Hepatic failure, Recurrent aspiration pneumonia, Nasogastric tube feeding ORPHA:501
Goodpasture Syndrome
Glomerulonephritis, Anemia, Weight loss OMIM:233450
Occipital Horn Syndrome
Chronic diarrhea, High palate, Hiatus hernia OMIM:304150
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Acne, Weight loss, Feeding difficulties, Vomiting, Failure to thrive ORPHA:90794
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia ORPHA:740
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating interferon-gamma concentratio... 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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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