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Gene: Il2 MGI:96548

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
interleukin 2
Synonyms:
IL-2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Il2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Il2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Abse... ORPHA:277
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Increased circulating IgE l... OMIM:615767
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... ORPHA:98813
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... ORPHA:444463
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Rec... OMIM:615285
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... OMIM:619281
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Incr... ORPHA:37748
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Lymphadenopathy, ... OMIM:613101
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... OMIM:618394
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Recurrent respiratory infections, Failure to thrive in infancy, Ecz... OMIM:619510
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... OMIM:615897
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Mo... OMIM:615592
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron... OMIM:212050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, T lymphocytopenia, Hypothyroidism, Hemolytic anemia,... OMIM:606367
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... OMIM:617241
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... OMIM:209950
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ul... OMIM:617638
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Sepsis, Uveitis, Inflammation o... OMIM:614700
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... OMIM:619773
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... OMIM:308230
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Failure to thrive, Skin rash, Reduced natural killer cell activity... OMIM:616050
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency 46
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chro... OMIM:616740
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk... OMIM:300635
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I... OMIM:618048
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Recurrent viral infections, Acute otitis media, T lymphocytopenia, Decrea... ORPHA:35078
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,... OMIM:618495
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T ly... OMIM:616433
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Recurrent upper re... OMIM:616005
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis media, Recurrent cut... ORPHA:47
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,... ORPHA:33355
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration ... OMIM:243700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... ORPHA:276
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve... OMIM:618523
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ... OMIM:242700
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Selective Igm Deficiency
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... ORPHA:331235
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diar... OMIM:618108
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, N... OMIM:607594
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... OMIM:304790
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati... OMIM:620282
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Primary Intestinal Lymphangiectasia
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Abdominal pai... ORPHA:90362
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Sepsis, Iron deficiency ane... OMIM:301000
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Recurrent viral infections, Colitis, Neutropenia, Infectious enceph... OMIM:209920
Q Fever
Respiratory distress, Rheumatoid factor positive, Abnormal left ventricular function, Abnormality... ORPHA:781
Immunodeficiency 17
Chronic oral candidiasis, Autoimmune hemolytic anemia, Recurrent respiratory infections, Eczema, ... OMIM:615607
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... ORPHA:1572
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... OMIM:608184
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Skin rash, Increased circulating IgA level, Abdominal... OMIM:617099
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... OMIM:613501
Boutonneuse Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Vasc... ORPHA:83313
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Sepsis, Decreased circulating IgG level, Hepatomegaly, Psoriasiform dermatiti... OMIM:616100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immune Thrombocytopenia
Platelet antibody positive OMIM:188030
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... OMIM:102700
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Anemia, Chr... ORPHA:209964
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Increased circulating IgA level, Bilateral cryptorchidism, Pylori... OMIM:616395
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
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
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythro... ORPHA:169160
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... ORPHA:397596
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur... OMIM:614493
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Increased circulating inosine concentration, Autoimmune hemolytic anemia, Si... OMIM:613179
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Colit... ORPHA:37042
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Chronic diarrhea, Recurrent p... OMIM:601495
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Failure to thrive, Myositis, Skin rash, Follicular hyperplasia,... OMIM:615934
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Recurrent opportunistic infections, Chro... OMIM:608971
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... OMIM:147060
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Malabsorption, Abdomi... ORPHA:2070
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... ORPHA:2137
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Chronic di... OMIM:614576
Immunodeficiency 20
Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent viral upper res... OMIM:615707
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent... OMIM:240500
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Elevated circu... OMIM:613011
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Splenome... OMIM:260920
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:620010
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmunity, Fol... OMIM:614470
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hypothyroidi... OMIM:615846
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... OMIM:619752
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Immunodeficiency 19
Recurrent respiratory infections, Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology... OMIM:615617
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Angiostrongyliasis
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Hypereosinop... ORPHA:74
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce... OMIM:618935
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... OMIM:614102
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... ORPHA:572
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... OMIM:618213
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea... OMIM:618459
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Failure to thrive, Recurrent skin infections, ... OMIM:256500
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... ORPHA:449400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurrent candida infections, ... OMIM:614069
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... ORPHA:906
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Recurrent opportunistic infections, T lymphocytopenia, Ar... OMIM:601457
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... ORPHA:319218
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Lymphadenitis, Leukocytosis, Chronic diarrhea... OMIM:615895
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Increased circulating lacta... ORPHA:232
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Stroke,... ORPHA:79312
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Increased circ... ORPHA:343
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... OMIM:618987
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Recurrent respirat... OMIM:615816
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Abdominal... ORPHA:100025
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vascular dilatation,... ORPHA:3287
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Tularemia
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnorma... ORPHA:3392
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... OMIM:618131
Legionnaires Disease
Hyponatremia, Pericarditis, Abnormal pleura morphology, Splenomegaly, Jaundice, Myocarditis, Abno... ORPHA:549
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto... OMIM:615688
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Facial ede... ORPHA:449432
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Constrictive pericarditis, Abdominal colic, Intestinal lymphedema,... ORPHA:90363
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Hypertension, ... OMIM:616069
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ... ORPHA:79124
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... ORPHA:64743
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... ORPHA:171
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Antineutrophil antibody posi... OMIM:301078
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Vasculitis, Decreased mean platelet vol... OMIM:617718
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Malaria
Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hy... ORPHA:673
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in infancy, Porta... OMIM:613385
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... ORPHA:3202
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, T lymphocytopenia, Leukopenia, Neutropenia, Decreased... OMIM:618986
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo... ORPHA:2902
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Desquamative inte... OMIM:615952
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Arthritis, Restrictive ... ORPHA:575
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Immunodeficiency 22
Failure to thrive, Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory... OMIM:615758
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Vasculitis, Respiratory insufficiency, Arthritis, Cough, Anemia ORPHA:375
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Elevated circ... OMIM:618805
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Failure to thrive, Skin rash, Recurrent viral infections, Recurrent myc... ORPHA:275
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Paraproteinemia, Nephritis, Membr... ORPHA:91139
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
C1Q Deficiency 3
Antinuclear antibody positivity OMIM:620322
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Conjunctival telangie... OMIM:208900
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Celiac disease, Increased circulating IgE level, Thyroiditis, Recurrent infections OMIM:618985
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Masp2 Deficiency
Systemic lupus erythematosus OMIM:613791
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Micr... ORPHA:398063
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... ORPHA:381
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Myeloma, Multiple
Amyloidosis, Paraproteinemia OMIM:254500
Immunodeficiency 56
Recurrent respiratory infections, Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pne... OMIM:615207
Lead Poisoning
Small for gestational age, Skin rash, Anorexia, Abdominal pain, Abdominal distention, Increased c... ORPHA:330015
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Respiratory insufficiency, Hyperammonemia, Anemia, Leukopenia, C... ORPHA:27
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Cystic Echinococcosis
Abnormal peritoneum morphology, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Bil... ORPHA:400
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectas... OMIM:242860
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Abdominal pain, Pulmonary embolism, Diarrhea... OMIM:226300
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... OMIM:619126
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic dia... ORPHA:39041
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase... OMIM:224120
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Decrea... OMIM:607616
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption OMIM:152800
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab... ORPHA:229717
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrh... ORPHA:2930
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocyt... ORPHA:289916
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Recurre... OMIM:620210
Alopecia Areata 1
Autoimmunity OMIM:104000
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Circulating immune complexes, Splenom... ORPHA:91138
Aspergillosis
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonar... ORPHA:1163
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... OMIM:620321
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hyponatremia, Skin rash, Hypoproteinem... OMIM:603553
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... OMIM:137100
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Prolonged bleeding time, ... OMIM:608233
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Myocardial infarction, Abdominal pain, Intestinal perforation, Pa... ORPHA:90038
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Antinuclear antibody positivity, Oral ulcer, Colit... OMIM:616744
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... ORPHA:289390
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Recurrent infections, ... OMIM:618261
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent respiratory infect... OMIM:615387
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Cryoglobulinemia, Epistaxis, Abnorm... ORPHA:33226
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level OMIM:300636
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Brucellosis
Liver abscess, Rheumatoid factor positive, Bronchitis, Elevated circulating C-reactive protein co... ORPHA:1304
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Positive direct ... ORPHA:71275
Immunodeficiency 31C
Villous atrophy, Protein-losing enteropathy, Recurrent vulvovaginal candidiasis, Hypothyroidism, ... OMIM:614162
Immunodeficiency 50
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp... OMIM:300988
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia, Vasculitis ORPHA:90026
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Failure to thrive, Recurrent respiratory infections, Splenomegaly, Chronic diarrhea... OMIM:613489
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep... OMIM:604416
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist... ORPHA:75233
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Minimal change glomerulonephritis, Decreased proportion of... ORPHA:1830
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Cardiac arrest, Pu... ORPHA:139402
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Propionic Acidemia
Hepatomegaly, Pancytopenia, Apnea, Eczema, Cerebellar hemorrhage, Tachypnea, Hyperammonemia, Anem... OMIM:606054
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Le... OMIM:613989
Mirage Syndrome
Recurrent urinary tract infections, Petechiae, Cryptorchidism, Esophageal stricture, Chronic diar... OMIM:617053
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Increased circulating ferr... OMIM:603552
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Facial edema, Xerostomia, Tubulointerstitial nephritis, Abnormal salivary gland morphol... ORPHA:79078
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Small for gestational age, Severe... ORPHA:99843
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High... ORPHA:79076
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe... ORPHA:90045
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L... ORPHA:50918
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Peeling Skin Syndrome 1
Increased circulating IgE level, Palmoplantar hyperhidrosis, Eosinophilia, Erythroderma OMIM:270300
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... ORPHA:169079
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG... ORPHA:284227
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ... ORPHA:324964
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Syndromic Diarrhea
Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, He... ORPHA:84064
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urg... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urg... ORPHA:100082
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Hepatic bridging fibrosis, Splenomegaly, Diarrhea, Intrahepatic ... OMIM:613812
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity OMIM:613495
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:619386
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... OMIM:269920
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... ORPHA:905
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia... OMIM:251000
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia,... ORPHA:292
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, D... OMIM:249100
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele... OMIM:232800
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, Th... ORPHA:64744
Aa Amyloidosis
Hepatomegaly, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Cholestasis, Amyloid... ORPHA:85445
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficu... OMIM:618183
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte physiol... ORPHA:99867
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo... ORPHA:1855
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... ORPHA:227990
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Hypoxem... ORPHA:70578
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... OMIM:618963
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circu... ORPHA:2314
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertrigly... OMIM:267700
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi... ORPHA:2686
Immunodeficiency 96
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Recurrent infec... OMIM:619774
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm... ORPHA:424019
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... ORPHA:227982
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... OMIM:611881
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Complement Component 4A Deficiency
Glomerulonephritis, Vasculitis, Reduced hemolytic complement activity, Systemic lupus erythematos... OMIM:614380
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Pleural effusion, ... ORPHA:188
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Increased cir... OMIM:256040
Primary Myelofibrosis
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Anorexia,... ORPHA:824
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... OMIM:617591
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Sp... OMIM:225750
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Dyspnea, Emphysema, Uveitis, L... ORPHA:36412
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Cach... ORPHA:83469
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Malabsorption, Increased circulating IgE lev... ORPHA:634
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... ORPHA:91547
Eosinophilopenia
Autoimmunity OMIM:131430
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Vasculitis, Resp... ORPHA:183
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, T lymphocytopenia, Infectious encephalitis, Autoimmune th... ORPHA:391487
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ... ORPHA:589
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Skin rash, Fluctu... OMIM:610377
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Recurrent viral infection... OMIM:619573
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... ORPHA:77297
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Celiac disease, Ab... ORPHA:186
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... ORPHA:464321
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Abnormality of body weight, Decreased circulating complement factor ... ORPHA:2298
Trichothiodystrophy 5, Nonphotosensitive
Chronic diarrhea, Chronic decreased circulating IgG1, Recurrent infections, Panhypopituitarism, D... OMIM:300953
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Anorexia, Malabsorption, Abdom... ORPHA:3452
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Increased circu... ORPHA:99827
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... ORPHA:3260
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... OMIM:616868
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Skin rash, Autoimmunity, Systemic lupus erythematosus, ... ORPHA:90036
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... ORPHA:565612
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... ORPHA:439232
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Bloom Syndrome
Poor appetite, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased circulat... ORPHA:125
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Postinfectious Vasculitis
Anorexia, Recurrent candida infections, Gastrointestinal inflammation, Unusual gastrointestinal i... ORPHA:48435
Vici Syndrome
Recurrent viral infections, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palat... OMIM:242840
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... ORPHA:97282
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Melioidosis
Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tra... ORPHA:31202
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the gastrointestinal tract, Increased c... ORPHA:85443
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Gastrointestinal dysmotility, Vomiting, Neutro... ORPHA:90051
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenis... ORPHA:228426
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Congestive heart failure, Abnormality of comple... ORPHA:2348
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... ORPHA:2924
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia, Abnormal salivary gland morphology ORPHA:3225
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pu... OMIM:613490
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ... ORPHA:31205
Catastrophic Antiphospholipid Syndrome
Myocardial infarction, Pulmonary embolism, Lupus anticoagulant, Abnormal jugular vein morphology,... ORPHA:464343
Pulmonary Nodular Lymphoid Hyperplasia
Autoimmune antibody positivity ORPHA:60026
Xq28 (MECP2) duplication
Recurrent respiratory infections, Feeding difficulties in infancy, Constipation, Gastroesophageal... DECIPHER:45
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Myocarditis, Cervical lymphadenopathy, Leukocytos... ORPHA:2331
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Congestive heart failure, Prominent veins on tr... ORPHA:79083
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... OMIM:142680
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... ORPHA:98870
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem... OMIM:617780
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Cogan Syndrome
Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va... ORPHA:1467
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Telangiectasi... OMIM:601675
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Hyper... ORPHA:1667
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... ORPHA:157794
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... ORPHA:3111
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Calcinosis, Erythema no... OMIM:613471
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... OMIM:175200
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Increased ci... OMIM:613313
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... OMIM:235555
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Shigellosis
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic ... ORPHA:810
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality... ORPHA:2552
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Elevated circulating C-rea... ORPHA:85414
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, D... OMIM:307200
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Recurrent infections OMIM:616941
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea,... OMIM:275350
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... OMIM:266265
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449427
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Hypertension, Coronary artery atherosclerosis, Pancreatitis ORPHA:79084
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Coronary artery atherosclerosis, Hypercholesterolem... OMIM:210250
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform... ORPHA:221139
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic active hepatitis, Asthma, Recurrent p... OMIM:614379
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Dubowitz Syndrome
Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic... OMIM:223370
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Feeding difficulties, Decreased circulating antibody level, Recurrent ... OMIM:617744
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp... ORPHA:99826
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhe... OMIM:620233
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... ORPHA:727
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp... OMIM:614868
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Ly... ORPHA:809
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Complement Component C1R/C1S Deficiency
Autoimmunity OMIM:216950
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Intestinal perforation, Gastrointestinal infarctions, Hepatic a... ORPHA:314652
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gam... ORPHA:563
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... ORPHA:900
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Rift Valley Fever
Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Uveitis, Retinal hemorr... ORPHA:319251
Igg4-Related Ophthalmic Disease
Sinusitis, Palpebral edema, Cholangitis, Increased circulating IgG4 level, Elevated circulating C... ORPHA:449563
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circ... OMIM:614034
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... OMIM:615947
Amyloidosis, Familial Visceral
Hepatomegaly, Generalized amyloid deposition, Skin rash, Splenomegaly, Cholestasis, Hypertension OMIM:105200
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Recurrent respiratory infections, Abn... ORPHA:3226
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... OMIM:251880
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Volvulus,... OMIM:112200
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi... OMIM:212750
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Anorex... OMIM:181000
Roifman Syndrome
Noncompaction cardiomyopathy, Eosinophilia, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Lymp... ORPHA:353298
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Pe... ORPHA:342
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Thrombocytopenia 1
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... OMIM:313900
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Autoimmunity, Splenomegaly, Jaundice, Congestive heart ... ORPHA:90033
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... OMIM:618116
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Malabsorption, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Acute Lung Injury
Shock, Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentratio... ORPHA:178320
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... ORPHA:100075
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Cryptorchid... ORPHA:235
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level, Obesity ORPHA:3409
Lupus Erythematosus Tumidus
Antinuclear antibody positivity, Autoimmune antibody positivity, Anti-La/SS-B antibody positivity... ORPHA:90283
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Aphthous ulcer, Diarrhea, Ulcerative colitis, Inflammatio... OMIM:266600
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ... OMIM:619487
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diar... OMIM:614602
Caroli Disease
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... ORPHA:53035
Linear Iga Dermatosis
Inflammation of the large intestine, Autoimmunity, Oral ulcer ORPHA:46488
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased response to growth hormo... OMIM:615577
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... OMIM:557000
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Babesiosis
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f... ORPHA:108
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Recurrent infections, Cardio... ORPHA:79327
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... OMIM:617341
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Vomiting, Hepat... ORPHA:275761
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Cach Syndrome
Nonketotic hyperglycinemia, Optic neuritis, Pancreatitis, Hepatosplenomegaly ORPHA:135
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu... OMIM:615214
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Congestive heart failure, Autoimmune antibody... ORPHA:3386
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233710
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Vasculitis, Skin rash ORPHA:889
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Lymphadenopathy, Weight loss, Macroglossia, Ovarian neoplasm, Gl... ORPHA:2221
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Recurrent candida ... OMIM:201100
Wells Syndrome
Vasculitis, Eosinophilia ORPHA:901
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Pyloric sten... OMIM:613327
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... ORPHA:117
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233690
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Small for gestational age, Macronodular cirrhosis, Decreased circulat... OMIM:215250
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Congestive he... ORPHA:67
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Dyskeratosis Congenita, Digenic
Decreased testicular size, Failure to thrive, Recurrent infections, Decreased circulating total I... OMIM:620040
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... OMIM:619256
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... OMIM:615468
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Insulin Autoimmune Syndrome
Autoimmune antibody positivity, Autoimmunity, Systemic lupus erythematosus ORPHA:411593
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency ORPHA:139406
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis ORPHA:33574
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly, Recurrent pharyng... ORPHA:42642
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepatic cholestasis, Hematochezia, Pr... OMIM:214950
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... OMIM:269200
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... OMIM:222700
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Immunodeficiency 9
Chronic diarrhea, Recurrent infections, Hypoplasia of the thymus, Recurrent aphthous stomatitis, ... OMIM:612782
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Increased circulatin... ORPHA:542323
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Pituitary adenoma,... ORPHA:99818
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inclusion Body Myositis
Autoimmunity ORPHA:611
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure, Ascites, Increased to... ORPHA:890
Alg12-Cdg
Recurrent respiratory infections, Intestinal malrotation, Partial absence of specific antibody re... ORPHA:79324
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Yellow Fever
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... ORPHA:99829
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Ileus, Diar... OMIM:219700
Scrub Typhus
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Dyspnea, Lymphadenopathy, Hyperhidrosis, ... ORPHA:83317
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen... ORPHA:1959
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, Recurrent pneum... OMIM:619750
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hepa... ORPHA:398124
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... ORPHA:101330
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Thrombocytopen... ORPHA:77259
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Hypertriglyceridemia, Hypertension... OMIM:608600
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Cough, Mediastinal lym... ORPHA:397
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pelvic mass, Elevated carcinoma antigen 125 level, Elevated circulating... ORPHA:370348
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho... ORPHA:69663
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Bronchiectasis, Feeding diffi... OMIM:620184
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... ORPHA:676
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Decreased liver function, Cirrhos... OMIM:613280
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... OMIM:232220
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Cirrh... OMIM:178500
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Respiratory insufficiency OMIM:618230
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Dyspnea, Splenomegaly, Abnormality of iron homeostasis, Anemia ORPHA:75563
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Diarrhea, Jaundice, Lymphadenopathy, An... ORPHA:858
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Protruding tongue, Malabsorption, D... ORPHA:2268
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Recurrent upper respiratory tract infections, Pancreatitis, Hyperammonemia OMIM:620137
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasis, B... OMIM:615518
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Dyspnea, Abnormal lactate dehydrogenase level, Stroke, Mi... ORPHA:54057
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod... ORPHA:464370
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoim... ORPHA:760
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Poor appetite, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss, Hyp... ORPHA:391
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:913
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nausea, ... ORPHA:85450
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Farber Disease
Failure to thrive, Intrahepatic cholestasis with episodic jaundice, Chronic diarrhea, Recurrent u... ORPHA:333
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased c... ORPHA:79330
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... ORPHA:93941
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Elevated he... ORPHA:36426
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Autoimmunity, Abnormalit... ORPHA:69665
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Extracranial Carotid Artery Aneurysm
Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total ... ORPHA:494424
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... OMIM:618999
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopath... ORPHA:169090
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Chylous Ascites
Ascites, Pancreatitis ORPHA:1160
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Hypocalcemia, Acute colitis, Hyponatremia, Hem... ORPHA:544482
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab... ORPHA:90159
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy OMIM:607685
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... ORPHA:486
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein con... ORPHA:36238
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Hepatomegaly, Recurrent E. coli infections, Lymphad... OMIM:306400
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Dyspnea, Elevated circulating alkaline phosphatase concentration, Ascit... OMIM:174050
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke... ORPHA:157991
Complement Factor I Deficiency
Recurrent skin infections, Glomerulonephritis, Decreased circulating complement factor B concentr... OMIM:610984
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired rist... OMIM:231200
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Ch... ORPHA:440713
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Anal stenosis, Sinusitis, Dysgammaglobu... OMIM:251260
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive OMIM:612075
Adult-Onset Nemaline Myopathy
Paraproteinemia, Neuromuscular dysphagia, Dilated cardiomyopathy, Feeding difficulties, High palate ORPHA:171442
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Oral ulcer, Malar rash, Systemic lu... OMIM:301080
Cog7-Cdg
Hepatomegaly, Small for gestational age, Diarrhea, Jaundice, Feeding difficulties, Hepatosplenome... ORPHA:79333
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... ORPHA:93126
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Gaisböck Syndrome
Myocardial infarction, Increased circulating renin level, Cholecystitis, Increased mean corpuscul... ORPHA:90041
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... ORPHA:93672
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyce... ORPHA:280365
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal bleeding, Malabsorption, Splenomegaly, Jaundi... ORPHA:79301
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... ORPHA:93552
Smith-Kingsmore Syndrome
Large for gestational age, Cryptorchidism, Feeding difficulties, Thrombocytopenia, Decreased circ... OMIM:616638
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, G... OMIM:613177
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc, Vasculitis, Skin rash OMIM:601979
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Cardiac arrest, Leukocyto... ORPHA:20
Idiopathic Trachyonychia
Amyloidosis, Atopic dermatitis, Autoimmune thrombocytopenia ORPHA:79153
Lassa Fever
Nausea and vomiting, Abnormal bleeding, Shock, Abdominal pain, Diarrhea, Jaundice, Sepsis, Increa... ORPHA:99824
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co... OMIM:618398
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... OMIM:619644
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Immunodeficiency 10
Autoimmune hemolytic anemia, Hypohidrosis, Thrombocytopenia, Lymphadenopathy OMIM:612783
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Polyhydramnios, Ab... OMIM:616809
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Tick-Borne Encephalitis
Anorexia, Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukope... ORPHA:297
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Decreased activity of NADPH oxidase, Aspiration pne... ORPHA:431361
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... OMIM:607115
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Respiratory distress, Recurrent respiratory infections, Acute hepati... ORPHA:537
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Precocious atherosclerosis, Pulmonary embolism, Periana... ORPHA:444490
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Orthostatic hypotension, Decreased circ... ORPHA:199299
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... ORPHA:30
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Chronic diarrhea, Bronchiectasis, Recurrent upper r... OMIM:619446
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... ORPHA:2176
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Increased circulati... OMIM:602390
Buerger Disease
Vasculitis, Hyperhidrosis ORPHA:36258
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia ORPHA:721
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Villous atrophy, Failure to thrive, Pericarditis, Feeding difficulties in infancy, ... OMIM:212065
Rabies
Nausea and vomiting, Sudden cardiac death, Anorexia, Recurrent pharyngitis, Diarrhea ORPHA:770
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... OMIM:612387
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pan... ORPHA:284
Mahvash Disease
Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia OMIM:619290
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse, Pulmonar... OMIM:235510
Congenital Factor Xiii Deficiency
Post-partum hemorrhage, Delayed onset bleeding, Inflammation of the large intestine, Ecchymosis, ... ORPHA:331
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Hypothyroidism, Chronic diarrhea, Feeding difficulties, Recurrent inf... OMIM:618268
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Elevated circulating C-reactive protein concentratio... ORPHA:79126
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Splenomegal... ORPHA:77260
Seckel Syndrome 10
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating luteinizi... OMIM:617253
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, E... OMIM:620005
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomeg... OMIM:617303
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Cirrhosis,... ORPHA:75234
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic steatosis, Hepatomega... ORPHA:79259
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Hepatomegaly, Abnormal large intestine morpholo... ORPHA:2198
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Decreased liver f... OMIM:616299
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Bowel incontinence, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Rhabdoid Tumor
Nausea and vomiting, Poor appetite, Abdominal pain, Lymphadenopathy, Anemia, Neoplasm of the live... ORPHA:69077
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Chronic diarrhea, Episodic abdominal pain, H... OMIM:268800
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urg... ORPHA:100080
Congenital Myopathy 20
Failure to thrive, Chronic diarrhea, High palate OMIM:620310
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Arterioven... ORPHA:584
Idiopathic Congenital Hypothyroidism
Autoimmune antibody positivity, Increased radioactive iodine uptake, Bradycardia, Prolonged neona... ORPHA:95717
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Rhe... ORPHA:49041
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Obesity, Hypoplasia of th... ORPHA:66628
Zika Virus Disease
Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Increased circulating IgM level, Art... ORPHA:448237
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... ORPHA:251992
Mccune-Albright Syndrome
Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatocellular ... ORPHA:562
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... ORPHA:221
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Recurrent sinopulmonary infections,... ORPHA:647
Subacute Cutaneous Lupus Erythematosus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit... ORPHA:163525
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Hypothyroidism, Increased circulating ferritin concentration, Anis... ORPHA:300298
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Splenomegaly, Defective production of... OMIM:612132
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Feeding difficulties, Normochromic anemia, Gastroesophageal reflux, Neutropenia, ... OMIM:614857
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Diarrhea, Cardiomyopathy, Amyloidosis, Constipation, Episodic vomiting, Orthostatic... OMIM:105210
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... ORPHA:90340
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Obesity, Hypoplasia of th... ORPHA:179494
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bleeding, Failure to thrive,... ORPHA:79329
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... OMIM:619004
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic se... OMIM:612301
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Large for gestational age, Cryptorchidism, Protuberant abdomen, Intestinal p... ORPHA:457485
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Elevat... OMIM:257200
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomegaly, Hypothyroidism, C... ORPHA:14
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis ORPHA:79095
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... ORPHA:133
Rheumatoid Arthritis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Vasculitis, An... OMIM:180300
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga... ORPHA:30391
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... OMIM:158310
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez... OMIM:613807
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxi... ORPHA:99147
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... OMIM:603041
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra... OMIM:614921
Trichinellosis
Skin rash, Increased circulating IgE level, Retinal hemorrhage, Conjunctivitis, Dysphagia, Nausea ORPHA:863
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis ORPHA:86893
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block,... ORPHA:509
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:615139
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Abdominal distention, Diarrhea, Cryptorchidism, Cholestasis, Ane... OMIM:608104
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Abnormality of the pancre... ORPHA:935
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Abnormality of... ORPHA:33276
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Epilepsy, Progressive Myoclonic, 11
Systemic lupus erythematosus OMIM:618876
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... ORPHA:26791
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... OMIM:263400
Idiopathic Achalasia
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
20Q13.33 Microdeletion Syndrome
Hematochezia, Small for gestational age, Failure to thrive in infancy ORPHA:261311
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis, Hypohidrosis ORPHA:363523
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... OMIM:606528
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Increased hepatitis B virus antibody level, Abdominal distention, Abnormal liver ... ORPHA:90003
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Chronic diarrhea, Recurrent infections, Arrhythmia, Nausea OMIM:615084
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Gastroesophageal reflux, Bone marrow ... OMIM:614742
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... ORPHA:355
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Abdominal pain, Recurrent vi... ORPHA:420741
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... ORPHA:533
Microlissencephaly
Pneumonia ORPHA:1083
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss ORPHA:79238
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Small for gestational age, Feeding difficulties in infancy, Cryptorchidism, Megarec... OMIM:301056
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Angina pectoris, Abnormality of the tonsils, Sple... ORPHA:93473
Monosomy 13Q34
Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic steatosis ORPHA:96168
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, ... ORPHA:99745
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Elevated circulating C-reactive protein concentration, Nonproduct... ORPHA:319213
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc... OMIM:610333
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Myocardial infarction, Hyperhomocystinemia, Stroke, Hypermethioninemia, Hepatic steatosis, Pancre... OMIM:236200
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane... OMIM:245900
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Hyperhidro... ORPHA:340
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Autoimmunity, Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infect... ORPHA:1303
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Abnormality of... ORPHA:290
Lathosterolosis
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I... OMIM:607330
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo... ORPHA:101096
Chronic Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neo... ORPHA:529808
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade... OMIM:609981
Acute Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neo... ORPHA:529799
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt... ORPHA:811
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Hepatomegaly, Skin rash, Petechiae, Epistaxis, ... ORPHA:99828
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal ... ORPHA:365
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, Anemia ORPHA:1046
Dysbetalipoproteinemia
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentr... ORPHA:412
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Transient ischemic attack, Abnormal immunoglobulin level... OMIM:242900
Moyamoya Disease 1
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia OMIM:252350
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia, Cachexia, Feeding difficulties ORPHA:157973
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... ORPHA:447
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Thrombocytopenia, Congestive heart... ORPHA:508542
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... ORPHA:2590
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Meconium ileus, Ma... ORPHA:586
Cog4-Cdg
Neonatal sepsis, Fatal liver failure in infancy, Failure to thrive in infancy, Recurrent upper re... ORPHA:263501
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... ORPHA:158048
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Amyloidosis, Finnish Type
Abnormal abdomen morphology, Cardiac amyloidosis, Generalized amyloid deposition, Cardiomyopathy OMIM:105120
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Hepatomegaly, Bundle branch block, Supernumerary nipple, Splenomegaly, Hig... ORPHA:373
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Autoimmunity, Elevated circulating creatinine concentration, Oral ... ORPHA:567544
Localized Scleroderma
Fasciitis, Autoimmunity, Raynaud phenomenon, Vasculitis, Abnormality on pulmonary function testin... ORPHA:90289
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology ORPHA:31
Riboflavin Transporter Deficiency
Hypertension, Cachexia, Dysphagia ORPHA:97229
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis,... OMIM:619693
Caffey Disease
Feeding difficulties in infancy, Increased circulating antibody level ORPHA:1310
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Increased circulating IgG level, Hig... OMIM:619472
Maple Syrup Urine Disease
Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevated circulating ... OMIM:248600
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Cryptorchidis... OMIM:619005
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:3363
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Conjugated hyperbilirubinemia, Anti-thyroid peroxidase antibod... ORPHA:95715
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Ret... ORPHA:88
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Copper accumulation in liver, Steatorrhea, Periportal fibrosis, Prolonged neona... OMIM:619481
Acrodermatitis Enteropathica
Poor appetite, Malabsorption, Anorexia, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... ORPHA:37
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Diarrhea, Iron deficiency anemia, High palate, Gastroesophageal reflux, Decreased b... OMIM:607906
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Lymphadenopathy, Weight loss, Pulmonary arterial h... ORPHA:2905
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Overweight, High, narrow palate, Feeding difficulties, Hematoch... OMIM:619575
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Autoimmunity, Abnormality of complement s... ORPHA:79086
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Renpenning Syndrome
Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia ORPHA:3242
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Respiratory insufficiency, Arthritis, Cherry red ... OMIM:228000
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Abnormal ... ORPHA:71272
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... OMIM:619046
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Testicular atr... OMIM:618165
Dystonia 31
Abnormal posturing, Dysphagia OMIM:619565
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Diarrhea, Vomiting OMIM:605911
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia, Cardiac conducti... ORPHA:97244
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... OMIM:230800
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Decreased beta-glucocerebrosidase lev... OMIM:231000
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity ORPHA:163703
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal... ORPHA:79277
Erythema Elevatum Diutinum
Skin rash, Vasculitis in the skin, Increased circulating antibody level ORPHA:90000
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hypoplasia of the ... ORPHA:436252
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Petechiae, Epistaxis, Anorexia, Abdominal pain, Diffuse alveolar... ORPHA:520
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory t... OMIM:210900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Failure to thrive, Splenomegaly... OMIM:276700
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Cardiomegaly, Diarrhea, Vomiting, Decreased liver function, Arrhythmia, H... ORPHA:42
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia OMIM:620072
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive, Anemia OMIM:620358
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis OMIM:238970
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neopl... ORPHA:424016
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Mirizzi Syndrome
Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Elevated circulating alkaline... ORPHA:521219
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... OMIM:300842
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Increased circulating interleukin... ORPHA:160
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Decrea... OMIM:240300
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesicular hepatic s... OMIM:608836
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice... OMIM:274150
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Adrenoco... ORPHA:100083
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL choleste... ORPHA:209902
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central ... ORPHA:514
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Villous atrophy, Failure to thrive, Small for gestational age... OMIM:222470
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Failure to thrive ORPHA:172
Aquagenic Palmoplantar Keratoderma
Systemic lupus erythematosus ORPHA:498359
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... OMIM:203800
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Diarrhea, Weight loss, Hyper... ORPHA:1842
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Esophageal varix, Hepato... ORPHA:264580
Bone Marrow Failure And Diabetes Mellitus Syndrome
Anti-glutamic acid decarboxylase antibody positivity, Anti-islet antigen-2 antibody positivity OMIM:620044
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat... ORPHA:168577
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, In... ORPHA:95716
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Neonatal respiratory distress, Respiratory tract infection, Atele... ORPHA:244
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:613404
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pers... OMIM:619769
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... OMIM:127550
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Elevated hepatic transaminase, Hypertyrosinemia, Conjugated hyperbilirubine... OMIM:617156
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... ORPHA:81
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Raynaud p... OMIM:607944
Plague
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectious pneumo... ORPHA:707
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo... OMIM:214500
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermat... ORPHA:293978
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration, Hepato... ORPHA:525731
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Thrombocytopenia, Congest... ORPHA:505248
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Feeding difficulties in infancy, Decreased circulating antibody level, High palate,... OMIM:606056
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Patent ductus... OMIM:606003
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Recurre... OMIM:613960
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis ORPHA:93476
Fumarase Deficiency
Necrotizing enterocolitis, Decreased fumarate hydratase activity, Intrahepatic cholestasis, Ascit... OMIM:606812
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Ne... ORPHA:449285
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Cryptorchidism, Recurrent pneumonia, Recurrent uppe... OMIM:607143
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm... OMIM:619151
Aredyld Syndrome
Splenomegaly, Cachexia, Hepatomegaly ORPHA:1133
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Functional intestinal obstruction, Intestinal pse... ORPHA:1333
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Head titubation, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysph... OMIM:619708
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Macrogl... OMIM:248500
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis ORPHA:435651
Colchicine Poisoning
Respiratory distress, Hyponatremia, Myocarditis, Leukocytosis, Congestive heart failure, Hypovole... ORPHA:31824
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... ORPHA:2796
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Abnormal c... ORPHA:264675
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Eczema, Cholelithiasis, Hepatic failure OMIM:177000
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Chronic noninfectious lymphadenopathy, Right ve... ORPHA:97287
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Adrenocorticotropin ... ORPHA:199296
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough... ORPHA:60033
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... ORPHA:1414
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Encephalopathy, Ethylmalonic
Failure to thrive, Chronic diarrhea, Petechiae, Feeding difficulties OMIM:602473
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal e... ORPHA:2575
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Increased RBC distributi... OMIM:187900
Diencephalic Syndrome
Hyperhidrosis, Cachexia, Decreased body weight ORPHA:1672
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Splenomegaly, Abnormality of the spleen... ORPHA:2072
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Portal i... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... OMIM:617049
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Atelectasis, Dyspnea, He... ORPHA:728
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... ORPHA:545
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Generalized amyloid deposition, Cerebral hemorrhage OMIM:105150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... OMIM:612541
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... ORPHA:464453
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Megaloblastic a... ORPHA:35858
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Feeding difficulties in infanc... ORPHA:1493
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis, Hypercalcemia OMIM:145001
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Hypothyroidism, Pancreatitis ORPHA:412057
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Porphyria Due To Ala Dehydratase Deficiency
Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal di... ORPHA:100924
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ... ORPHA:379
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti... ORPHA:319552
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Feeding difficulties in infancy, Overweight, Cryptorchidism, Chronic diarrhea, Chronic constipati... ORPHA:500055
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Paraproteinemia, Recurrent infections, Hypertension, De... ORPHA:329918
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly ORPHA:309288
Gaucher Disease, Type Ii
Hepatomegaly, Double aortic arch, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Rec... OMIM:230900
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlipid... OMIM:232240
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Heart murmur, Respiratory insufficiency, Intracrani... ORPHA:163979
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis, Corneal neovascularization, Chronic rhinitis OMIM:615225
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Petechiae, Hema... ORPHA:274
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failure, Diarrhea, Paroxysmal at... ORPHA:49827
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Hennekam Syndrome
Recurrent respiratory infections, Malabsorption, Splenomegaly, Pyloric stenosis, Pulmonary lympha... ORPHA:2136
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... OMIM:235200
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
Preeclampsia
Helicobacter pylori infection, Autoimmunity, Abdominal pain, Elevated circulating creatinine conc... ORPHA:275555
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Patent ductus arteriosus, Elevated circulating long chain fatty ac... OMIM:614886
Alg8-Cdg
Abnormality of the gastrointestinal tract, Failure to thrive, Small for gestational age, Diarrhea... ORPHA:79325
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Vomiting, Failure to thrive OMIM:230350
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Myoc... ORPHA:206569
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Diamond-Blackfan Anemia 6
Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Mitral regurgitation, I... OMIM:612561
Galactosemia I
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:230400
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Intermittent hype... ORPHA:348
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Portal ... ORPHA:131
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cachexia, High palate, Narrow palate OMIM:618186
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Essential Thrombocythemia
Transient ischemic attack, Myocardial infarction, Abnormal cerebral vascular morphology, Splenome... ORPHA:3318
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Lymphadenop... ORPHA:79292
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia, Hypohidrosis ORPHA:884
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... ORPHA:100078
Necrotizing Enterocolitis
Shock, Neonatal sepsis, Small for gestational age, Abdominal distention, Leukocytosis, Diarrhea, ... ORPHA:391673
Paroxysmal Cold Hemoglobinuria
Recurrent respiratory infections, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:90035
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Pleuritis... OMIM:609939
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... ORPHA:48377
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties OMIM:620270
B4Galt1-Cdg
Abnormal bleeding, Hepatomegaly, Inflammatory abnormality of the skin, Small for gestational age,... ORPHA:79332
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Antinuclear antibody p... ORPHA:536
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... ORPHA:371364
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Brunner Syndrome
Diarrhea OMIM:300615
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... ORPHA:449280
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Predominantly lower limb lymphede... ORPHA:90186
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Abnormal pulmonary i... OMIM:613658
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Moynahan Syndrome
Cachexia ORPHA:2574
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Anemi... OMIM:603467
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... ORPHA:91500
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in... ORPHA:77261
Melas
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Cardiac conduction abnormality, Dilated cardi... ORPHA:550
X-Linked Creatine Transporter Deficiency
Constipation, Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Vasc... ORPHA:793
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus OMIM:613779
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Failure to thrive in infancy, Transient ischemic attack, Feedi... ORPHA:500150
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Aortic regurgitation, Tricuspid regurgitation, Ele... OMIM:614866
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:605479
Fadd-Related Immunodeficiency
Autoimmune antibody positivity ORPHA:306550
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Gout, Hypertension, Hyperuricemia, H... OMIM:232200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Epis... OMIM:201475
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Hypertension, Increased circulating cortisol level, Pancreatitis OMIM:610475
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Episodic abdominal p... ORPHA:97280
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Decreased circulating complement factor B concentration, Hyperlipidemia, Schisto... OMIM:235400
Classic Galactosemia
Hepatomegaly, Abnormal erythrocyte enzyme level, Cryptorchidism, Diarrhea, Jaundice, Sepsis, Feed... ORPHA:79239
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97283
Glycogen Storage Disease Ixb
Splenomegaly, Diarrhea, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Medi... ORPHA:79128
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Failure to thrive, Diarrhea, Neutropenia, Recurrent infections, ... OMIM:617941
Hijazi-Reis Syndrome
Recurrent respiratory infections, Hyperbilirubinemia OMIM:301094
Leprechaunism
Hepatomegaly, Enlarged ovaries, Abdominal distention, Rectal prolapse, Megarectum, Central hypoth... ORPHA:508
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficulties, Hyperhidro... ORPHA:813
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... OMIM:619685
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr... ORPHA:85212
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Abnormal heart rate variabil... ORPHA:206436
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... ORPHA:234
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopul... OMIM:604173
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Williams Syndrome
Myocardial infarction, Cardiomegaly, Rectal prolapse, Gastroesophageal reflux, Chronic otitis med... ORPHA:904
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Diarrhea, Hepatocellular adenoma, Increased body weight, Polycystic o... ORPHA:79240
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Patent ductus arteriosus,... OMIM:613610
Chylomicron Retention Disease
Acanthocytosis, Increased hepatocellular lipid droplets, Abdominal distention, Diarrhea, Vomiting... ORPHA:71
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Protein-... OMIM:602579
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Japanese Encephalitis
Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Increased circ... ORPHA:79139
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Protruding tongue, Decreased circulating antibody level, Feeding difficulties,... OMIM:617062
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumonia, Neutropenia OMIM:618253
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnorma... ORPHA:464329
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Mucopolysaccharidosis Type 2, Severe Form
Recurrent ear infections, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Recurrent upper respi... ORPHA:217085
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Recurr... OMIM:617827
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Protein-losing enteropa... ORPHA:79319
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis... ORPHA:90062
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ... OMIM:239300
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Eczema, Rectal prolapse, Obesity, Pseudohypoparathyroidism, F... OMIM:617157
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph... OMIM:259700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Type 1 Diabetes Mellitus
Autoimmunity OMIM:222100
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent ear infections, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Recurrent upper respi... ORPHA:217093
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop... OMIM:617052
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet ... OMIM:187800
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocy... ORPHA:83601
Scleromyxedema
Abnormality of the gastrointestinal tract, Transient ischemic attack, Abnormality of thyroid phys... ORPHA:167635
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Hereditary Methemoglobinemia
Methemoglobinemia, Exertional dyspnea ORPHA:621
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, High palate, Bone marrow hypocellularity, Neutropenia, Failure... OMIM:614520
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Elevated circulating C-reactiv... ORPHA:70591
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Hyperhidrosis, Pro... ORPHA:466677
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... OMIM:608594
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Degcags Syndrome
Hepatomegaly, Pancytopenia, Tachycardia, Chronic lung disease, Pneumonia, Congenital hypoplastic ... OMIM:619488
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... ORPHA:454831
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrop... OMIM:610910
Ogden Syndrome
Apnea, Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency a... OMIM:300855
Epilepsy-Telangiectasia Syndrome
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Timothy Syndrome
Prolonged QT interval, Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Ventricular... OMIM:601005
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... OMIM:250250
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Asymmetric se... OMIM:252930
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Abdom... ORPHA:729
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Elevated cir... OMIM:612852
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Oral leuko... ORPHA:3322
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... OMIM:227810
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Abnormal T ... ORPHA:3132
Overlap Myositis
Elevated circulating creatine kinase concentration, Autoimmunity, Antinuclear antibody positivity... ORPHA:206572
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:614887
Mucopolysaccharidosis Type 2
Hepatomegaly, Recurrent ear infections, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Recurre... ORPHA:580
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Rett Syndrome
Cachexia, Constipation, Gastroesophageal reflux, Abnormal T-wave, Prolonged QTc interval OMIM:312750
Dpm1-Cdg
Hepatomegaly, High, narrow palate, Diarrhea, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr... ORPHA:79322
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Supernumerary nipple, Cachexia, Cryptorchidism, Feeding difficu... ORPHA:217346
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Autoimmune antibody positivity, Increased radioactive ... ORPHA:90673
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Acquired Ichthyosis
Autoimmunity ORPHA:454
Juvenile Amyotrophic Lateral Sclerosis
Head titubation, Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Sarcoidosis
Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidism, Hemoly... ORPHA:797
Camurati-Engelmann Disease
Hepatomegaly, Anorexia, Cachexia, Feeding difficulties in infancy, Splenomegaly, Leukopenia, Hype... ORPHA:1328
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Dysphagia OMIM:304700
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Osteoarthritis,... ORPHA:287
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Ch... ORPHA:71493
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Helsmoortel-Van Der Aa Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased response to growt... OMIM:615873
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Autoimmunity, Nodular pattern ... ORPHA:1546
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Cervical lymphadenopathy... ORPHA:653
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Abnormal pleura morphology, Myocarditis, Recurrent pharyngiti... ORPHA:3099
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Fetal ascite... OMIM:607625
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections,... OMIM:252920
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Inflammatory abnormality of the skin, Tachycardia, Respirato... ORPHA:26793
Williams-Beuren Syndrome
Colonic diverticula, Recurrent urinary tract infections, Failure to thrive in infancy, Portal hyp... OMIM:194050
Cocaine Intoxication
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Hyperhidro... ORPHA:90068
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Respiratory distress, Neonatal respiratory di... OMIM:260400
Polyarteritis Nodosa
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Abnormal... ORPHA:767
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Recurrent pneumonia, Congest... OMIM:309900
Lichen Planopilaris
Hepatitis ORPHA:525
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Patent ductus arteriosus... ORPHA:163956
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Recurrent respiratory infections, Bowel incontinence ORPHA:702
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Intestinal bleeding, Raynaud phenomenon, Pulm... ORPHA:90291
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis OMIM:145981
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... ORPHA:2330
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Sepsis, Feeding difficulties, Decreased circulating antibody level, Re... ORPHA:79396
Pleural Mesothelioma
Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Dysphagia ORPHA:50251
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen... ORPHA:2538
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Acquired Partial Lipodystrophy
Autoimmunity ORPHA:79087
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Vasculitis, Arthritis, R... ORPHA:761
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... ORPHA:2363
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Anhidrosis OMIM:614979
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Angina pectoris, Cachexia, Abnormal large intestine morphology, Narrow pala... ORPHA:109
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Abdominal pain, Diarrhea, Lymphadenopathy, V... ORPHA:79455
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
H Syndrome
Psoriasiform dermatitis, Hypertriglyceridemia, Microcytic anemia, Recurrent pharyngitis, Abnormal... ORPHA:168569
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hyperparathyroidism, Hypermagnesemia, Pancreatitis OMIM:145980
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... ORPHA:85446
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Thin upper lip vermilion, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Lo... OMIM:615966
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti... OMIM:232300
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hypoal... OMIM:619534
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Fetal ascit... OMIM:257220
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts... OMIM:208500
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure, Atherosclerosis ORPHA:2724
Distal Xq28 Microduplication Syndrome
Epistaxis, Asthma, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Hypoth... ORPHA:293939
Flynn-Aird Syndrome
Primary adrenal insufficiency, Cachexia ORPHA:2047
Encephalitis Lethargica
Increased circulating antibody level, Bradycardia, Bowel incontinence, Recurrent viral infections ORPHA:83600
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyperhidrosis, Hypocalcem... ORPHA:94093
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Esophageal stenosis, Te... ORPHA:1775
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia ORPHA:664
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, An... OMIM:615710
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Asymmetric se... OMIM:252900
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Skin rash, Cheilitis, Hepatitis, Cough ORPHA:1334
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,... OMIM:617237
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... ORPHA:90060
Addison Disease
Normocytic anemia, Nausea and vomiting, Hypoparathyroidism, Primary testicular failure, Decreased... ORPHA:85138
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Prominent superficial veins, Decreased HDL cholesterol concentr... OMIM:151660
Complement Factor B Deficiency
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration OMIM:615561
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Fanconi Anemia, Complementation Group R
Anal atresia, Bone marrow hypocellularity, Anemia OMIM:617244
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Pancreatitis OMIM:600740
Monosomy 18Q
Left-to-right shunt, Bilateral cryptorchidism, Hypothyroidism, Congestive heart failure, Mitral r... ORPHA:1600
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... ORPHA:587
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Impaired T cell function, Allergic rhinitis, Recurrent viral infection... OMIM:176690
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
22Q11.2 Deletion Syndrome
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the t... ORPHA:567
Myopathy, Myofibrillar, 1
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... OMIM:601419
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Hyperammonemia, Hyperornithine... ORPHA:415
Immunodeficiency 77
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess OMIM:619223
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... ORPHA:228116
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... OMIM:301500
Attrv30M Amyloidosis
Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhyt... ORPHA:85447
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Abnormal erythrocyte morphology, Diarrhea, Malnutrition, Decreased body weight, F... ORPHA:96180
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
Muckle-Wells Syndrome
Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous stomatitis, Renal amylo... OMIM:191900
Malt Lymphoma
Nausea and vomiting, Recurrent respiratory infections, Abdominal pain, Mediastinal lymphadenopath... ORPHA:52417
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia OMIM:256700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, High, narrow palate, Nasogastric tube feeding in infancy, Obesity, Decreased ... ORPHA:369837
Lissencephaly Due To Lis1 Mutation
Dilation of Virchow-Robin spaces, Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Xerostomia, Arthritis, Ker... OMIM:617321
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Lymphad... ORPHA:1332
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pleural effusion, Pancreatitis, Exocrine pancrea... OMIM:167800
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... OMIM:193400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Beta-Ketothiolase Deficiency
Hepatomegaly, Anorexia, Diarrhea, Leukocytosis, Weight loss, Hypertension, Vomiting, Hypotension,... ORPHA:134
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Pulmonary embolism, Microcyti... ORPHA:90308
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Congenital hepatic fibrosis,... ORPHA:974
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Stroke OMIM:602248
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Enteric Anendocrinosis
Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting ORPHA:83620
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive, Recurrent infections OMIM:228600
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Respiratory insufficiency, Hypotension, Mastocytosis, Arrh... ORPHA:2135
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... OMIM:188400
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Pancreatic adenocarcinoma... ORPHA:144
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97278
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... ORPHA:662
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... OMIM:617092
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Poor appetite, Diarrhea, Dilated cardiomyopathy, Recurrent infect... ORPHA:352447
Bachmann-Bupp Syndrome
Dilation of Virchow-Robin spaces, Hyperbilirubinemia OMIM:619075
Dermatitis Herpetiformis
Autoimmunity, Eczema, Microcytic anemia, Edema, Malabsorption ORPHA:1656
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Acute Disseminated Encephalomyelitis
Viral hepatitis, Respiratory failure requiring assisted ventilation, Anti-myelin oligodendrocyte ... ORPHA:83597
Brachydactylous Dwarfism, Mseleni Type
Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth... ORPHA:2619
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven... ORPHA:99095
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Feeding difficulties in infancy, Submucous cleft hard p... OMIM:617140
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Abdominal pain, Cardiomegaly, Splenomegaly... ORPHA:465508
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Palpebral edema, Feeding difficulties, Wide mouth, Hyposerinemia, Gastroesophageal reflux, Esopha... ORPHA:79350
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation, Hyperhidrosis OMIM:615548
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly, Autoimmune ... ORPHA:77293
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Knee osteoarthritis, Ascites, Mitral regurgitation... ORPHA:2848
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Pancreatic adenocarcinoma, Neoplasm of the panc... ORPHA:440437
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis OMIM:120100
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tach... OMIM:239200
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Small for gestational age, Skin rash, Megaloblastic anemia, Tracheoes... OMIM:277380
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Neonatal hyperbiliru... ORPHA:3008
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomitin... ORPHA:927
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi... ORPHA:3342
Isolated Thyroid-Stimulating Hormone Deficiency
Autoimmune antibody positivity, Pituitary hypothyroidism, Abnormal circulating thyroglobulin leve... ORPHA:90674
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Diarrhea, Atopic dermatitis, Hypochromic microcytic anemia, Vomiting, Thrombocyt... ORPHA:3240
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Asthma, Pancreatitis OMIM:619471
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Weight loss, Aspiration pneumonia, Dysphagia ORPHA:216866
Coffin-Lowry Syndrome
Rectal prolapse, Narrow palate, Mitral regurgitation, High palate, Decreased body weight OMIM:303600
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... ORPHA:100079
Carcinoid Syndrome
Nausea and vomiting, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventri... ORPHA:100093
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
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Autoimmunity, Pituitary aden... ORPHA:91354
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abdominal pain, Encopresis, Diarrhea, O... ORPHA:589821
Tuberculosis
Weight loss ORPHA:3389
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Congestive heart failure, Hepatosplenomegaly, Fee... ORPHA:354
Autoimmune Hypoparathyroidism
Abdominal symptom, Autoimmunity, Autoimmune hypoparathyroidism, Autoimmune antibody positivity, C... ORPHA:36913
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, ... OMIM:602782
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Microvesicular he... OMIM:619418
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia OMIM:616457
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... OMIM:202400
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi... ORPHA:2357
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... ORPHA:158668
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Obesity, Hyperhidrosis, High palate, Decreased testicular size ORPHA:85293
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Cutaneous lichen amyloido... OMIM:171400
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Diarrhea, Congestive heart failure,... OMIM:212140
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Cockayne Syndrome
Hepatomegaly, Anhidrosis, Cachexia, Feeding difficulties in infancy, Splenomegaly, Cryptorchidism... ORPHA:191
Bullous Pemphigoid
Autoimmunity ORPHA:703
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Biotinidase Deficiency
Hepatomegaly, Recurrent skin infections, Skin rash, Apnea, Seborrheic dermatitis, Splenomegaly, T... OMIM:253260
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Atelectasis, Wheezing, Pneumothorax, Abnormal heart rate... ORPHA:70588
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Acute Adrenal Insufficiency
Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Orthostatic hypoten... ORPHA:95409
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Anorexia, ... ORPHA:99889
Idiopathic Pulmonary Hemosiderosis
Rheumatoid factor positive, Antinuclear antibody positivity, Autoimmune antibody positivity, Smoo... ORPHA:99931
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Dysphagia, As... OMIM:252940
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Decreased circulating ... OMIM:602668
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Enlarged tonsils, Autoimmunity, Increased circulating free fa... ORPHA:293964
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... ORPHA:95430
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Congesti... ORPHA:98908
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia, Weight loss ORPHA:1302
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Monosomy 18P
Autoimmunity, Lymphedema, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtru... ORPHA:1598
Benign Schwannoma
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... ORPHA:252164
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Malabsorption, Feeding difficult... ORPHA:3463
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Iron deficiency anemia, Gastric ulcer, Esophageal ulceration, Impaired platelet a... OMIM:618372
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Acute ly... ORPHA:524
Congenital Analbuminemia
Small for gestational age, Obesity, Increased circulating antibody level, Low pulse pressure, Rec... ORPHA:86816
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Diarrhea, Abdominal pain OMIM:615399
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties, Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steat... OMIM:615119
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia ORPHA:79101
Mowat-Wilson Syndrome
Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Cryptorchidism,... ORPHA:2152
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... OMIM:248360
Limited Cutaneous Systemic Sclerosis
Autoimmunity ORPHA:220402
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Adiposis Dolorosa
Recurrent skin infections, Autoimmunity, Diarrhea, Xerostomia, Arthritis, Constipation, Hypothyro... ORPHA:36397
Huntington Disease-Like 1
Abnormal posturing, Weight loss ORPHA:157941
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Cholestasis, Hepatosplenomegaly, Feeding difficulties, Decreased serum zinc, Hepatic fibrosis, Es... ORPHA:541423
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Gastric ulcer, Decreased circu... OMIM:604928
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Recurrent urinary tract infections, Anorexia, Cryptorchidis... ORPHA:361
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Increased circulating antibody level, Dysphagia OMIM:606002
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthritis, Constrictive pericarditis OMIM:208250
Pemphigus Vulgaris
Autoimmunity ORPHA:704
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Ascites, Aspiration pn... OMIM:301072
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent streptococcus pneumoniae infections, Recurrent upper respiratory tract infections, Titu... ORPHA:225147
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Microcytic anemia, Pulmonary embolism, Retinal telangiectasia, Chole... ORPHA:774
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter ORPHA:142
Spontaneous Periodic Hypothermia
Nausea and vomiting, Skin rash, Diarrhea, Hyperhidrosis, Arrhythmia ORPHA:29822
Trisomy 18
Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Anal atresia ORPHA:3380
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatase B activity, Spl... OMIM:253200
Placental Insufficiency
Antiphospholipid antibody positivity, Systemic lupus erythematosus ORPHA:439167
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Failure to thrive OMIM:230600
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Autoimmunity, Hypermagnesemia, Pancreatitis, Hypocalcemic ... ORPHA:405
Neuromyelitis Optica Spectrum Disorder
Autoimmune antibody positivity ORPHA:71211
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Hyp... ORPHA:99880
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Bicarbonaturi... OMIM:229600
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, Hy... ORPHA:79264
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Recurrent infections, Increased mean corpuscular volume, Esophag... OMIM:612562
Diarrhea 13
Hepatic steatosis, Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Thrombocytopenia, Esophageal atresia, Cryptorchidism, An... OMIM:227646
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Hyp... ORPHA:143
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, L... ORPHA:667
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis OMIM:616589
Reynolds Syndrome
Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Ker... ORPHA:779
Malakoplakia
Abnormal bleeding, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Follicular hy... ORPHA:556
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Prolonged bleeding following... OMIM:274000
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of t... ORPHA:221008
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Increased... OMIM:215600
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Weight loss, Keratoconjunctivitis, Thrombocytopenia, Perio... ORPHA:79242
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size OMIM:300215
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Malabsorption, Diarrhea, Obesity OMIM:600955
Occipital Horn Syndrome
Orthostatic hypotension, Hiatus hernia, Chronic diarrhea, High palate, Bruising susceptibility OMIM:304150
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Recurrent respiratory infections, Feeding difficulties in infancy, Diarrhea, Hyperaldosteronism, ... OMIM:264350
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Glucocorto... ORPHA:171876
Cockayne Syndrome Type 1
Hepatomegaly, Cryptorchidism, Diarrhea, Uveitis, Hypohidrosis, Hypertension, Conjunctivitis, Fail... ORPHA:90321
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding ORPHA:289504
Infant Botulism
Hyponatremia, Bowel incontinence, Anorexia, Abdominal pain, Xerostomia, Keratoconjunctivitis sicc... ORPHA:178478
Fanconi Anemia, Complementation Group O
Cryptorchidism, Rectal atresia, Anal atresia OMIM:613390
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atresia OMIM:617666
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration, Ri... OMIM:253700
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Diamond-Blackfan Anemia
Acute myeloid leukemia, Radial artery aplasia, Pure red cell aplasia, Erythroid hypoplasia, Retic... ORPHA:124
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level OMIM:114065
Schwartz-Jampel Syndrome
Cachexia, Feeding difficulties in infancy, Cleft palate, Pulmonary arterial hypertension, High pa... ORPHA:800
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... ORPHA:79430
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Autoimmunity, Malabsorption, Carious teeth, Xerostomia, Arthritis, Gastroeso... ORPHA:220393
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Abdominal dist... OMIM:235255
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Splenomegaly, Cryptorchidism, Lacunar stroke, Macrogloss... OMIM:618440
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:276152
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Patent ductus arteriosus, Reticulocytopenia, Steroid-res... OMIM:613309
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Tachycardia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricula... OMIM:618321
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased body weight, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, A... OMIM:608013
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Thrombocytopenia, Cryptorchidism, Reticulocytopenia, Bon... OMIM:227645
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Aplasia of the thymus, Congenital hypothyroidism, Unconjugated ... OMIM:620186
Angioedema, Hereditary, 1
Intestinal edema, Abdominal pain, Diarrhea, Reduced hemolytic complement activity, Vomiting, Decr... OMIM:106100
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Peptic ulcer, Elevated circulating growth hormone concentration, D... OMIM:131100
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding difficulties, Bone marrow hy... OMIM:614083
Chops Syndrome
Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiration pneumonia, ... OMIM:616368
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism, Decreased circulating IgG level, Neutropenia OMIM:271510
Colonic Atresia
Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s... ORPHA:1198
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Hypothyroidism, Prolonged neonatal jaundice ORPHA:909
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Small for gestational age, Cryptorchidism, Diarrhea, Cleft palate, Functional ab... ORPHA:221016
Velocardiofacial Syndrome
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Velopharyngeal insufficiency, Submu... OMIM:192430
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Myasthenia, Limb-Girdle, Autoimmune
Hashimoto thyroiditis, Mildly elevated creatine kinase, Thymoma, Systemic lupus erythematosus OMIM:159400
Erythermalgia, Primary
Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation OMIM:133020
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Hepatic fibrosis, El... ORPHA:64
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Elevated hepatic transaminase, Osteomyelitis, Congestive heart failure, Jau... OMIM:619475
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
African Trypanosomiasis
Hepatomegaly, Pericarditis, Abnormal EKG, Keratitis, Splenomegaly, Jaundice, Myocarditis, Congest... ORPHA:3385
Fucosidosis
Hepatomegaly, Anhidrosis, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Vacuolate... OMIM:230000
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Granuloma, Arrhythmia, Infectious enc... ORPHA:68
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Infectious encephalitis, Abnormal hemoglobin, Anemia ORPHA:847
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per... OMIM:263200
Huntington Disease-Like 2
Weight loss ORPHA:98934
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Elevated circulating urop... OMIM:263700
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Diarrhea, Rhinitis, Vomiting, Orthostatic syncope, Syncope... ORPHA:230
Complement Component 5 Deficiency
Reduced hemolytic complement activity, Recurrent Neisserial infections, Intractable diarrhea, Gen... OMIM:609536
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Chronic Graft Versus Host Disease
Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric... ORPHA:99921
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Cardiomyopathy, Decreased beta-galactosidase activity, Aspiration pneumonia, ... ORPHA:79255
Porphyria, Acute Intermittent
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hep... OMIM:176000
Nephroblastoma
Abdominal pain, Weight loss, Lymphadenopathy, Neoplasm of the liver, Hypertension ORPHA:654
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... ORPHA:252183
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Ascites ORPHA:168811
Rothmund-Thomson Syndrome
Aplastic anemia, Small for gestational age, Skin rash, Telangiectasia of the skin, Nasogastric tu... ORPHA:2909
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Calcification of the aorta, Mitral stenosis OMIM:231005
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... ORPHA:733
Acys Amyloidosis
Amyloidosis, Cerebral hemorrhage, Cerebral amyloid angiopathy ORPHA:100008
Johanson-Blizzard Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:243800
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Hypertension, Chronic pancreatitis OMIM:613159
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Selective tooth agenesis, Microcytic anemia, Dental malocclusion, Episo... ORPHA:2959
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis OMIM:608189
Transient Neonatal Diabetes Mellitus
Autoimmune antibody positivity ORPHA:99886
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Diarrhea, Increased body weight, Hyperhidro... ORPHA:263455
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, Pulmonary lymphang... ORPHA:1655
Camurati-Engelmann Disease
Poor appetite, Slender build, Bone marrow hypocellularity, Anemia OMIM:131300
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Bone marrow hyp... ORPHA:2785
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, Lymphadenopathy, Hepato... ORPHA:85408
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Abnormal EKG, Patent duct... ORPHA:980
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Aspiration p... OMIM:619167
Glutaric Aciduria Iii
Hyperthyroidism, Diarrhea, Hypertension, Vomiting, Failure to thrive, Goiter OMIM:231690
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis OMIM:200400
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Increased serum beta-hexosaminidase, Hepat... ORPHA:845
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failu... ORPHA:79351
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Adenoiditis, Malabsorption, Splenomegaly, Cardi... ORPHA:581
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Recurrent respiratory infections, Esophageal stenosis, Hypoperistalsis, Esophageal neo... ORPHA:1018
Xfe Progeroid Syndrome
Hypertension, Failure to thrive, Ascites, Cachexia OMIM:610965
Proteus Syndrome
Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged... ORPHA:744
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom... ORPHA:646
Turner Syndrome Due To Structural X Chromosome Anomalies
Autoimmunity, Hashimoto thyroiditis, Abnormality of the dentition, Celiac disease, High, narrow p... ORPHA:99413
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Pulmonic stenosis, Pulmona... OMIM:616028
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Pancytopenia, Pneumo... ORPHA:309282
Mosaic Monosomy X
Autoimmunity, Hashimoto thyroiditis, Abnormality of the dentition, Celiac disease, High, narrow p... ORPHA:99228
Monosomy X
Autoimmunity, Hashimoto thyroiditis, Abnormality of the dentition, Celiac disease, High, narrow p... ORPHA:99226
Turner Syndrome
Autoimmunity, Hashimoto thyroiditis, Abnormality of the dentition, Celiac disease, High, narrow p... ORPHA:881
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis, Autoimmunity ORPHA:363558
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Raynaud phenomenon, Micronodular cirr... OMIM:192315
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Dilated cardiomyopathy, Feeding difficulties, Mitral regurgitation, Arrh... ORPHA:2556
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneu... ORPHA:79404
Hepatoerythropoietic Porphyria
Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration ... ORPHA:95159
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:1267
Non-Functioning Paraganglioma
Sinus tachycardia, Cerebral hemorrhage, Episodic hyperhidrosis, Congestive heart failure, Weight ... ORPHA:94080
Erythrokeratodermia Variabilis
Abnormal testis morphology, Skin rash, Weight loss ORPHA:317
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Sepsis, Weig... ORPHA:764
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Stickler Syndrome
Recurrent respiratory infections, Slender build, Cachexia, Feeding difficulties in infancy, Osteo... ORPHA:828
Ehlers-Danlos Syndrome, Periodontal Type, 1
Alveolar bone loss around teeth, Autoimmunity, Hiatus hernia, Intestinal perforation, Periodontit... OMIM:130080
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur ORPHA:1867
Kilquist Syndrome
Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teeth, Wide mouth, Chronic ... OMIM:619080
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia ORPHA:228371
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
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... OMIM:149730
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... OMIM:115470
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Autoimmunity, Primary adrenal insufficiency, Chronic muc... ORPHA:3453
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Diarrhea, Failure to thrive, Vomiting OMIM:560000
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Dysphagia OMIM:128100
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Gitelman Syndrome
Hyperhidrosis, Iron deficiency anemia, Tubulointerstitial nephritis, Prominent U wave, Abnormal T... ORPHA:358
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Decreased testicular size, Pancytopenia, Cryptorchidism, Esophageal stric... OMIM:305000
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Jaundi... ORPHA:677
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Hypohidrosis, Constipat... ORPHA:163746
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Feeding difficulties in infan... ORPHA:3208
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Huntington Disease
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Occipital Horn Syndrome
Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Esophagitis, Vascular dilatation ORPHA:198
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Feeding difficulties, Hyperaldosteronism, Vomiting, Pseudohypoaldosteronism, Hypotensio... OMIM:177735
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Acute Intermittent Porphyria
Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperhid... ORPHA:79276
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Eczema, Abnormality of the dentition, Xerostomia, Hypohidr... ORPHA:238468
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive, Petechiae ORPHA:51188
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Episodic hyperhidrosis, Di... OMIM:223900
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Congenital hypothyroidism, Stridor, Bradycardia, Hyper... OMIM:218700
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Diarrhea, Feeding difficulties, Arrhythmia, Hepatic steatosis OMIM:255120
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Hypercholesterolemia, Pu... OMIM:606721
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Cardiac conductio... ORPHA:2131
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Cardiomegaly, Large for gestational ag... ORPHA:363705
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Reye syndrome-like episodes, Abdominal di... OMIM:256810
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi... ORPHA:85436
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Aganglionic megac... ORPHA:84
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Short hard palate, Anorexia ORPHA:1969
Cholera
Hyponatremia, Tachycardia, Tachypnea, Abnormal blood ion concentration, Hypovolemic shock, Hypoka... ORPHA:173
Prune Belly Syndrome
Cryptorchidism, Xerostomia, Anal atresia, Oligohydramnios OMIM:100100
Glycerol Kinase Deficiency
Hypertriglyceridemia, Adrenal insufficiency, Hyperglycerolemia, Chronic pancreatitis OMIM:307030
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... ORPHA:2290
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... ORPHA:169805
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... OMIM:617137
Isaacs Syndrome
Hyperhidrosis, Weight loss ORPHA:84142
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Graves Disease, Susceptibility To, 1
Increased circulating free T4 concentration, Abnormal abdomen morphology, Increased circulating f... OMIM:275000
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Postorgasmic Illness Syndrome
Xerostomia, Hyperhidrosis ORPHA:279947
Isolated Osteopoikilosis
Discoid lupus rash, Autoimmunity, Cleft palate ORPHA:166119
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Cysticercosis
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Agel Amyloidosis
Tongue atrophy, Edema, Xerostomia, Keratoconjunctivitis sicca, Abnormal spleen morphology, Blepha... ORPHA:85448
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... ORPHA:100086
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Cleft palate, Para... ORPHA:2237
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... ORPHA:35710
Blue Diaper Syndrome
Decreased circulating T4 concentration, Diarrhea, Increased body weight ORPHA:94086
Mednik Syndrome
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon OMIM:609313
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Cryptorchidism, Hi... OMIM:309800
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility ORPHA:230839
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss ORPHA:99868
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... ORPHA:480536
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Hyperhidrosis, Constipation, Gastroesophageal reflux, ... OMIM:608643
Mucolipidosis Type Ii
Aortic regurgitation, Recurrent respiratory infections, Abnormal atrioventricular valve physiolog... ORPHA:576
Stiff Person Spectrum Disorder
Autoimmune antibody positivity ORPHA:3198
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure OMIM:617809
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation, Menorrhagia ORPHA:168816
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Prolonged QT interval, Feeding difficulties in infancy, Diarrhea, Dilated ... ORPHA:71212
Pemphigus Foliaceus
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Autoimmunity, Pustule, Crusting erythem... ORPHA:79481
Myasthenia Gravis
Autoimmunity OMIM:254200
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio... ORPHA:100050
Aspartylglucosaminuria
Hepatomegaly, Recurrent respiratory infections, Acne, Diarrhea, Vacuolated lymphocytes, Macroglos... OMIM:208400
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... OMIM:618050
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Respiratory insufficiency, Coarctation of aorta, Hypertension, Hyperbilirubinemia, Prolonged neon... OMIM:210710
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Small for gestational age, Intestinal malrot... ORPHA:1199
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Lymphadenop... ORPHA:99978
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Distal Renal Tubular Acidosis
Hemolytic anemia, Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive ORPHA:18
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulonephritis, Microcytic anemia, Spl... OMIM:619525
Glossopharyngeal Neuralgia
Autoimmunity, Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Feeding difficulties, Tongue ... ORPHA:221098
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Absent nipple, Conical tooth, Xerostomia, Rhinitis, Everted lower lip vermilion, Hypo... OMIM:614941
Orofaciodigital Syndrome Type 4
Decreased testicular size, Recurrent respiratory infections, Monorchism, High, narrow palate, Sub... ORPHA:2753
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Stiff-Person Syndrome
Autoimmunity, Anemia, Hyperhidrosis OMIM:184850
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ... OMIM:186580
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Eec Syndrome
Decreased response to growth hormone stimulation test, Abnormal dental enamel morphology, Carious... ORPHA:1896
Iatrogenic Botulism
Constipation, Xerostomia, Dysphagia ORPHA:254509
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Huntington Disease-Like 2
Weight loss OMIM:606438
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Neuropathy, Hereditary Sensory And Autonomic, Type V
Anhidrosis, Osteomyelitis, Diarrhea, Osteoarthritis, Constipation, Septic arthritis OMIM:608654
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Abdominal pain, Weight loss, Syncope, Nausea, Anemia ORPHA:71273
Chikungunya
Abnormal bleeding, Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Raynaud pheno... ORPHA:324625
Marfan Syndrome
Arthralgia/arthritis, Cachexia, High, narrow palate, Congestive heart failure, Cleft palate, Slen... ORPHA:558
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Juvenile Huntington Disease
Weight loss ORPHA:248111
Arteriosclerosis, Severe Juvenile
Hypertension, Gastric ulcer, Myocardial infarction, Anemia OMIM:208060
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration... ORPHA:35069
Cornelia De Lange Syndrome 1
Duplication of internal organs, Pneumonia, Thrombocytopenia, Otitis media OMIM:122470
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypohidrosis, Hypokalemia OMIM:617671
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Retroperitoneal fibrosis, Congesti... ORPHA:35687
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, Absce... ORPHA:642
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Eczema, Premature loss of primary teeth, Abnormality o... ORPHA:2907
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... ORPHA:2896
Fatal Familial Insomnia
Hyperhidrosis, Weight loss, Constipation, Dysphagia OMIM:600072
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Weight loss OMIM:143880
Alg9-Cdg
Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Hepatic cysts, Diarrhea, Periportal fibro... ORPHA:79328
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Pneumonia, Jaundice, Hyperkalemia ORPHA:90790
Familial Hypoaldosteronism
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Feeding difficulties, Adrena... ORPHA:427
Hemophilia B
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... OMIM:306900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating creatine kinase concentration, Feeding difficulties, Esophagit... OMIM:615356
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the liver, Constipation ORPHA:2126
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Xerostomia, Feeding difficulties, Widely spaced teeth, Enamel hypoplasia OMIM:620193
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Keratitis, Feeding difficulties in infancy, Xerostomia, Chr... ORPHA:1051
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse goiter, Activat... ORPHA:424
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Dilated cardiomyopathy... ORPHA:79408
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia, Fa... OMIM:610768
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Sinus tachycardia, Cerebral hemorrhage, Episodic hyperhidrosis, Co... ORPHA:276621
Serotonin Syndrome
Tachycardia, Diarrhea, Hyperhidrosis, Hypertension, Hypotension, Hepatic failure, Nausea ORPHA:43116
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia ORPHA:93317
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Recurrent aspiration pneumonia ORPHA:73230
Prader-Willi Syndrome
Gastroparesis, Decreased response to growth hormone stimulation test, Edema, Abnormality of the d... ORPHA:739
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity... ORPHA:93284
Hereditary Fructose Intolerance
Hepatomegaly, Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Episodic hyperhidrosis, C... ORPHA:469
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Acne, Skin rash, Sudden cardiac death, Angina pectoris, Telangiectas... ORPHA:758
Seckel Syndrome
Cachexia ORPHA:808
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Diarrhea, Low-to-normal blood pressure, Hyperaldosteronism, Constipati... OMIM:241200
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Prolonged Q... ORPHA:273
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Feeding difficulties in infancy, Hydrocele testis, High palate, Gastroesophageal r... ORPHA:280633
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Familial Gestational Hyperthyroidism
Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor... ORPHA:99819
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Poor appetite, Weight loss ORPHA:312
Aicardi-Goutières Syndrome
Myositis, Chilblains, Autoimmunity, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chr... ORPHA:51
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperthyroidism, Autoimmunity, Gastroesophageal reflux, Recurrent otitis media, Hypothyroidism ORPHA:449291
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Peritonitis, Erysipelas, Abdominal pain OMIM:134610
Cerebrotendinous Xanthomatosis
Angina pectoris, Myocardial infarction, Diarrhea, Pseudobulbar paralysis, Cholelithiasis OMIM:213700
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Decreased circulating cortisol level, Tetralogy of Fallot with pul... OMIM:620305
Lambert-Eaton Myasthenic Syndrome
Xerostomia, Hypohidrosis, Keratoconjunctivitis sicca, Constipation, Calcium channel antibody posi... ORPHA:43393
9Q33.3Q34.11 Microdeletion Syndrome
Cryptorchidism, Tented philtrum, Dysphagia, Thin vermilion border, Constipation, Esophagitis, Nar... ORPHA:495818
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Patent ductus arteriosus, ... ORPHA:438213
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hyperaldosteronism, Fa... OMIM:214700
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Menke-Hennekam Syndrome 2
Chronic constipation, Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:618333
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Pulmonary embolism, Esophageal varix, Intrac... ORPHA:394
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Choreoacanthocytosis
Hepatomegaly, Protruding tongue, Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis,... ORPHA:2388
Cystinosis, Nephropathic
Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Weight loss,... OMIM:219800
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Aspiration pneumonia OMIM:616430
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... OMIM:177850
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Sinus tachycardia, Cerebral hemorrhage, Episodic hyperhidrosis, Co... ORPHA:29072
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction, Dilated cardiomyopathy, Weight loss, Mitral regurgi... OMIM:607459
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Tetrasomy 9P
Absent gallbladder, Pericarditis, Myositis, Juxtaductal coarctation of the aorta, Raynaud phenome... ORPHA:3310
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult... ORPHA:565
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Adrenocortical Carcinoma
Abdominal pain, Adrenocorticotropic hormone deficiency, Increased body weight, Hyperhidrosis, Wei... ORPHA:1501
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Increased circulating free T4 concentration, Hyperthyroidism, Weight loss, Increased... OMIM:613239
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Abnormality of the... ORPHA:538
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain ORPHA:69078
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, C... ORPHA:454840
Sacral Defect With Anterior Meningocele
Constipation, Rectal abscess OMIM:600145
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Unilateral Polymicrogyria
Pseudobulbar paralysis, Epistaxis, Abnormal posturing, Nasogastric tube feeding ORPHA:268943
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Weight loss, Palpitations, Goiter OMIM:188580
Acute Transverse Myelitis
Decreased circulating copper concentration, Abscess, Gastroparesis, Autoimmunity, Systemic lupus ... ORPHA:139417
Aymé-Gripp Syndrome
Patent ductus arteriosus, Pericarditis ORPHA:1272
8P23.1 Microdeletion Syndrome
Cryptorchidism, Obesity, Weight loss, High palate, Hypertrophic cardiomyopathy ORPHA:251071
Pseudohypoparathyroidism Type 2
Autoimmune antibody positivity ORPHA:94090
Plasminogen Deficiency, Type I
Duodenal ulcer, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Neph... OMIM:217090
Marshall-Smith Syndrome
Apnea, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Premature ventricu... OMIM:602535
Tsh-Secreting Pituitary Adenoma
Hyperhidrosis, Vomiting, Hyperthyroidism, Hypotension, Ventricular arrhythmia, Secondary growth h... ORPHA:91347
Aplasia Of Lacrimal And Salivary Glands
Carious teeth, Lacrimal gland hypoplasia, Xerostomia, Lacrimal gland aplasia OMIM:180920
Focal Myositis
Myositis, Weight loss ORPHA:48918
Pmm2-Cdg
Respiratory distress, Elevated hepatic transaminase, Pericarditis, Angina pectoris, Elevated circ... ORPHA:79318
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, ... ORPHA:1359
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Weight loss, Orthostatic hypotension due to autonomic dysfunction, Dysphagia ORPHA:411602
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotox... ORPHA:79102
Short Syndrome
Poor appetite, Weight loss ORPHA:3163
Proximal Renal Tubular Acidosis
Malabsorption, Diarrhea, Hypovolemia, Vomiting, Failure to thrive ORPHA:47159
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Intestinal malrotation, Biliary atresia, Feeding di... ORPHA:2255
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Recurrent respiratory infections, Hypertriglyceridemia, Pneumonia, Hypopla... OMIM:264090
Kabuki Syndrome 1
Hemolytic anemia, Autoimmune thrombocytopenia, Coarctation of aorta, Congenital hypothyroidism, R... OMIM:147920
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Poor appetite, Nasogastric tube feeding in infancy, Feeding dif... ORPHA:2020
Dend Syndrome
Autoimmune antibody positivity ORPHA:79134
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperhidrosis, Secretory diarrhea, Acne, Seborrheic dermatitis OMIM:614441
Coffin-Siris Syndrome
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Aspiration pneumonia, Hep... ORPHA:1465
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Opitz Gbbb Syndrome
Enlarged ovaries, Patent ductus arteriosus, Coarctation of aorta, Stridor, Aortic root aneurysm, ... ORPHA:2745
Adult-Onset Autosomal Dominant Leukodystrophy
Anhidrosis, Orthostatic hypotension, Decreased sweating due to autonomic dysfunction, Aspiration ... ORPHA:99027
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Patent ductus arteri... ORPHA:353281
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Small for gestational age, Diarrhea, Low-to-normal blood pressure, Hyperaldo... OMIM:601678
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Neonatal hyperbilirubinemia OMIM:300896
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Congestive heart failure, Patent ductus ar... ORPHA:444077
Osteosarcoma
Weight loss ORPHA:668
Resistance To Thyrotropin-Releasing Hormone Syndrome
Autoimmune antibody positivity ORPHA:99832
Doors Syndrome
Respiratory distress, Congenital hypothyroidism, Aspiration pneumonia, Thrombocytosis, Double out... ORPHA:79500
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... OMIM:619482
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia ORPHA:649
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Patent ductus arteri... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Patent ductus arteri... ORPHA:353277
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
Ayme-Gripp Syndrome
Pericarditis OMIM:601088
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru... OMIM:225400
Autoimmune Pulmonary Alveolar Proteinosis
Autoimmune antibody positivity ORPHA:747
Perry Syndrome
Weight loss OMIM:168605
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Diarrhea, Vomiting, Testicular... ORPHA:217253
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Duodenal ulcer, Intestinal malrotation, Feeding difficulties in... OMIM:135900
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Weight loss, High palate, Dysphagia, Hype... OMIM:164310
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Hyperhidrosis, Secretory diarrhea, Acne, Seborrheic dermatitis OMIM:167100
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Abn... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Abn... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Abn... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Central hypothyroidism, Abn... ORPHA:93924
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Small for gestational age, Feeding diff... ORPHA:508488
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Decreased circulating cortisol level, Acne, Primary adrenal insufficiency, Testicular adre... ORPHA:90794
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... ORPHA:740
Penile Agenesis
Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia ORPHA:49
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Isolated Permanent Neonatal Diabetes Mellitus
Hypovolemia, Weight loss, Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta cells ORPHA:99885
Goodpasture Syndrome
Pulmonary hemorrhage, Glomerulonephritis, Anemia, Weight loss OMIM:233450
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Duodenal ulcer, Periodontitis ORPHA:722
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Opsoclonus-Myoclonus Syndrome
Autoimmune antibody positivity ORPHA:1183
Yunis-Varon Syndrome
Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial hypertension, Tetralogy of... OMIM:216340
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337

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 Il2

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 Il2.

There are 27 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
IL-20 controls resolution of experimental colitis by regulating epithelial IFN/STAT2 signalling. Gut (October 2023) Il20tm1(KOMP)Vlcg Il20rbtm1b(KOMP)Wtsi Il20ratm1(KOMP)Vlcg 37884352
IL-24 is the key effector of Th9 cell-mediated tumor immunotherapy. iScience (August 2023) Il24tm1.1(KOMP)Vlcg PMC10480301
Conditional deletion of CD25 in the corneal epithelium reveals sex differences in barrier disruption. The ocular surface (July 2023) Il2ratm1c(EUCOMM)Wtsi 37516317
cDC1-derived IL-27 regulates small intestinal CD4+ T cell homeostasis in mice. The Journal of experimental medicine (December 2022) Il27tm1a(EUCOMM)Wtsi PMC9754766
Interleukin 24 promotes cell death in renal epithelial cells and is associated with acute renal injury. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons (July 2022) Il24tm1.1(KOMP)Vlcg 35801504
IL-24 intrinsically regulates Th17 cell pathogenicity in mice. The Journal of experimental medicine (July 2022) Il24tm1.1(KOMP)Vlcg PMC9280194
Group 3 innate lymphocytes make a distinct contribution to type 17 immunity in bladder defence. iScience (June 2022) Il22ra1tm1a(EUCOMM)Wtsi PMC9283510
Lymph node fibroblastic reticular cells regulate differentiation and function of CD4 T cells via CD25. The Journal of experimental medicine (March 2022) Il2ratm1a(EUCOMM)Wtsi PMC8943836
Group 1 ILCs regulate T cell-mediated liver immunopathology by controlling local IL-2 availability. Science immunology (February 2022) Il2ratm1c(EUCOMM)Wtsi 35213210
Protein kinase R is an innate immune sensor of proteotoxic stress via accumulation of cytoplasmic IL-24. Science immunology (February 2022) Il24tm1.1(KOMP)Vlcg 35148201
Expression of IL-20 Receptor Subunit β Is Linked to EAE Neuropathology and CNS Neuroinflammation. Frontiers in cellular neuroscience (September 2021) Il20tm1(KOMP)Vlcg PMC8452993
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Il22tm1Jcrd Il22ra1tm1a(EUCOMM)Wtsi Il23rtm2a(EUCOMM)Wtsi Il27tm1b(EUCOMM)Wtsi PMC7263671
Acetate coordinates neutrophil and ILC3 responses against C. difficile through FFAR2. The Journal of experimental medicine (March 2020) Il22ra2tm2c(EUCOMM)Wtsi Il22ra2tm2a(EUCOMM)Wtsi Il22ra2tm2b(EUCOMM)Wtsi 31876919
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Il23rtm2a(EUCOMM)Wtsi Il27tm1b(EUCOMM)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Il22ra1tm1a(EUCOMM)Wtsi Il23rtm2a(EUCOMM)Wtsi Il27tm1b(EUCOMM)Wtsi Il27tm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Il22ra1tm1a(EUCOMM)Wtsi Il23rtm2a(EUCOMM)Wtsi PMC6459510
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
Interleukin-22 protects intestinal stem cells against genotoxic stress. Nature (January 2019) Il22ra1tm1a(EUCOMM)Wtsi PMC6420091
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
Targeting Inflammatory T Helper Cells via Retinoic Acid-Related Orphan Receptor Gamma t Is Ineffective to Prevent Allo-Response-Driven Colitis. Frontiers in immunology (May 2018) Il23rtm2a(EUCOMM)Wtsi PMC5992389
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Il22ra1tm1a(EUCOMM)Wtsi Il22ra1tm1a(EUCOMM)Wtsi Il23rtm2a(EUCOMM)Wtsi PMC5827107
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Il24tm1.1(KOMP)Vlcg PMC5503261
Epithelial IL-23R Signaling Licenses Protective IL-22 Responses in Intestinal Inflammation. Cell reports (August 2016) Il23rtm1a(EUCOMM)Wtsi PMC5443566
IL-22 regulates lymphoid chemokine production and assembly of tertiary lymphoid organs. Proceedings of the National Academy of Sciences of the United States of America (August 2015) Il22ra1tm1a(EUCOMM)Wtsi PMC4568258
Epithelial IL-22RA1-mediated fucosylation promotes intestinal colonization resistance to an opportunistic pathogen. Cell host & microbe (September 2014) Il22ra1tm1a(EUCOMM)Wtsi PMC4190086
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Il22ra1tm1a(EUCOMM)Wtsi PMC3996542
HVEM signalling at mucosal barriers provides host defence against pathogenic bacteria. Nature (August 2012) Il22ra1tm1a(EUCOMM)Wtsi PMC3477500

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MGI Allele Allele Type Produced
Il2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Il2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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