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Gene: Rag2 MGI:97849

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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:
recombination activating gene 2
Synonyms:
Rag-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 Rag2 mutations

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

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

The table below shows human diseases associated to Rag2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Omenn Syndrome
Hepatomegaly, Alopecia, Failure to thrive, Eosinophilia, Pneumonia, Pruritus, Splenomegaly, Leuko... ORPHA:39041
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... OMIM:603554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Diarrhea, Recurrent opportunistic infections, Arthritis... OMIM:601457

The table below shows human diseases predicted to be associated to Rag2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve... OMIM:615897
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Immunodeficiency 79
Decreased proportion of CD4-positive T cells, Recurrent upper respiratory tract infections, Recur... OMIM:619238
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... ORPHA:169154
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re... OMIM:269840
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Anorexia, Pneumonia, Diarrhea, Recurrent pne... ORPHA:169160
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc... OMIM:607594
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Alopecia universalis, Hemolytic anemia, Psoriasiform dermatit... OMIM:606367
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... ORPHA:98813
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Sézary Syndrome
Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Lymphadenopathy, N... ORPHA:3162
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... OMIM:614493
Immunodeficiency 85 And Autoimmunity
Tube feeding, Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhe... OMIM:619510
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 44
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... OMIM:616636
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... OMIM:615559
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis,... OMIM:304790
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit... OMIM:616100
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Alopecia, Recurrent ... ORPHA:499
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Decreased circulating antibody level, Lymphadenopathy, Hepatos... OMIM:618261
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... OMIM:300635
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent... OMIM:240500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... OMIM:613179
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus... OMIM:613860
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly,... OMIM:613101
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat... OMIM:617638
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... OMIM:613501
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Chronic lymphocytic meningi... OMIM:209920
Omenn Syndrome
Hepatomegaly, Alopecia, Failure to thrive, Eosinophilia, Pneumonia, Pruritus, Splenomegaly, Leuko... ORPHA:39041
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Absence of lymph node germina... ORPHA:277
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Hereditary Progressive Mucinous Histiocytosis
Pruritus, Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc... OMIM:603554
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption,... ORPHA:100025
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent resp... OMIM:620210
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Recurrent meningococcal disease, Recurrent Klebsiell... OMIM:614372
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida... OMIM:614069
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Decreased pro... OMIM:615767
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Chronic lymphatic ... OMIM:616005
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Netherton Syndrome
Sparse scalp hair, Failure to thrive, Brittle hair, Villous atrophy, Brittle scalp hair, Eczema, ... OMIM:256500
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... OMIM:615592
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... ORPHA:397596
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Diarrhea, Recurrent opportunistic infections, Arthritis... OMIM:601457
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Villous atrophy, Skin rash, Reduced natural killer cell activity... OMIM:616050
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf... ORPHA:331235
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Pruritus, Abnormality of the spleen, D... ORPHA:79456
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... OMIM:618986
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Squamous Cell Carcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Lymphadenopathy ORPHA:99977
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Pruritus, Increased cir... OMIM:618282
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,... OMIM:102700
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Decreased circulatin... ORPHA:33355
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Pruritus, Increased circulating IgE level, Onycholysis, Nail dystroph... OMIM:270300
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Wei... ORPHA:139402
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... OMIM:619752
Cronkhite-Canada Syndrome
Anorexia, Hypoplastic toenails, Hamartomatous polyposis, Stomach cancer, Dystrophic fingernails, ... ORPHA:2930
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat... OMIM:209950
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Anal fissure, Perianal abscess, Splenomega... OMIM:618935
Immunodeficiency 42
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... OMIM:616622
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... OMIM:618495
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ... OMIM:226990
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I... OMIM:618048
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:601859
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea... OMIM:615895
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... OMIM:615122
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... ORPHA:37042
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Abdominal pai... ORPHA:90362
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Immunodeficiency 40
Rectal fistula, Respiratory tract infection, Severe varicella zoster infection, Chronic diarrhea,... OMIM:616433
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis jirovecii pneum... OMIM:301078
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Nail dystrophy, B... OMIM:615190
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Lymphadenopathy, Abnormal lymp... ORPHA:2584
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Hepatosplenomegaly, Cystic acne, Arthritis, Sterile arthri... OMIM:604416
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... OMIM:614470
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Schnitzler Syndrome
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circula... ORPHA:37748
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Chronic diarrhea, Recurrent p... OMIM:601495
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... OMIM:618131
Adenocarcinoma Of The Esophagus
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ob... ORPHA:99976
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... OMIM:616740
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
X-Linked Agammaglobulinemia
Sinusitis, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis media, Recurrent cutaneous a... ORPHA:47
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Paronychia, Increased circulating IgE level, Bloody diarrhe... OMIM:614328
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi... ORPHA:2686
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Pruritus, Erythroderma ORPHA:280785
Immunodeficiency 22
Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulating total IgM, D... OMIM:615758
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Increased circu... OMIM:242860
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Failure to thrive, Myositis, Skin rash, Increased circulating IgA ... OMIM:615934
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Burkitt Lymphoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... OMIM:615285
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Skin rash, Increased circulating IgA level, Abdominal... OMIM:617099
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... OMIM:614868
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... ORPHA:77297
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weig... ORPHA:26790
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Malabsorption, Sparse eyebrow, Abnormal h... ORPHA:634
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, Leukocytosis,... ORPHA:3392
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Nausea and vomiting, Test... ORPHA:83469
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa... ORPHA:98848
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... ORPHA:183675
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... ORPHA:507
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Wolman Disease
Nausea and vomiting, Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Abdominal dist... ORPHA:75233
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... OMIM:241600
Bloom Syndrome
Poor appetite, Paronychia, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decrea... ORPHA:125
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Malabsorption, Abnormal hair morphology, Intestinal lymphangiect... OMIM:152800
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Erythroderma, Anal atresia, Lymphopenia, Hepa... OMIM:617425
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Anorexia... ORPHA:824
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Pruritus, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Abnormal hair morphol... OMIM:208900
Griscelli Syndrome
Abnormal eyebrow morphology, Hepatomegaly, Abnormality of neutrophils, Abnormal eyelash morpholog... ORPHA:381
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Abdominal pain, Cervical lymphadenopathy, Diarrhea, Lymphaden... ORPHA:83313
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Bone Marrow Failure Syndrome 4
Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th... OMIM:618116
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... ORPHA:3260
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype... OMIM:615387
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... OMIM:613496
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit... OMIM:611762
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... OMIM:301000
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... OMIM:619693
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large inte... OMIM:620133
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Generalized Pustular Psoriasis
Overweight, Pustule, Leukocytosis, Obesity, Uveitis, Cheilitis, Arthritis, Palmoplantar pustulosi... ORPHA:247353
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Weight loss, Lymp... ORPHA:42642
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Small for gestational age, Malabsorption, Ch... OMIM:601675
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Feeding difficulties, Decreased circulating antibody level, Failure to... OMIM:617744
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... ORPHA:251380
Immunodeficiency, Common Variable, 10
Trachyonychia, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Alopecia totalis, D... OMIM:615577
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Systemic Lupus Erythematosus 17
Alopecia, Autoimmune thrombocytopenia, Malar rash, Leukopenia, Decreased circulating complement C... OMIM:301080
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Hepatic bridg... OMIM:300972
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Pruritus, Splenomegaly, Weight loss, Lymphadeno... ORPHA:391
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Hepatomegaly, Portal ... ORPHA:79124
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Gastrostomy tube f... OMIM:613385
Roifman Syndrome
Eosinophilia, Hyperconvex nail, Eczema, Recurrent pneumonia, Prominent eyelashes, Hepatosplenomeg... ORPHA:353298
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Small for gestational age, Macronodular cirrhosis, Decreased circulat... OMIM:215250
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... ORPHA:93941
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ... OMIM:608233
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunoglobulin A Deficiency 1
Malabsorption, Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level OMIM:137100
Mogs-Cdg
Hepatomegaly, Alopecia, Fair hair, Hirsutism, Hepatosplenomegaly, Decreased circulating antibody ... ORPHA:79330
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocyto... OMIM:260920
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Bone marrow hypoce... OMIM:619767
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Syndromic Diarrhea
Villous atrophy, Brittle hair, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of ... ORPHA:84064
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, A... OMIM:617591
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrh... OMIM:212750
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea,... OMIM:275350
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorch... OMIM:617053
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Dyskeratosis Congenita, Digenic
Alopecia, Failure to thrive, Sparse eyelashes, Decreased circulating total IgM, Gastroesophageal ... OMIM:620040
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... OMIM:147060
Ataxia-Telangiectasia
Hypopigmentation of hair, Failure to thrive, Decreased circulating antibody level, Premature gray... ORPHA:100
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Gastroint... ORPHA:1572
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Abdo... ORPHA:2137
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Pyloric stenosis, Recurrent pneumonia, Ileus, Feeding difficulties, C... OMIM:613327
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... OMIM:615508
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... OMIM:619750
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,... ORPHA:169105
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute l... ORPHA:3226
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Neutropenia in ... OMIM:615952
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Jaundice, Hepatos... OMIM:603553
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Chronic diarrhea... OMIM:615207
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abdominal pain, Abnormality of the pancreas, Diarrhea... ORPHA:54251
Papular Xanthoma
Histiocytosis ORPHA:158008
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, Perianal abscess, Crypto... OMIM:612541
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Chronic diarrhea, Decreased s... OMIM:614576
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re... OMIM:612444
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop... OMIM:618852
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad... OMIM:617718
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Feeding difficulties ORPHA:79238
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Malabsorption, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Erythroderma, Failure to thrive, Abnormality of the nail ORPHA:79394
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Alopecia, Myositis, Skin rash, Abdominal pain, Discoid... ORPHA:93552
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... OMIM:615978
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... OMIM:618999
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis... ORPHA:47612
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Anorexia, Abdominal ... ORPHA:3452
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Abnormal jejunum morphology, Unusua... ORPHA:449280
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Adrenoco... ORPHA:100083
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Dysphagia, Failure to thr... DECIPHER:45
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-... ORPHA:90363
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Malnutrition, Gastroesophageal reflux, Dysphagia, Recurrent aspirati... ORPHA:930
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality... ORPHA:2552
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... OMIM:612301
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight los... ORPHA:420741
Smith-Kingsmore Syndrome
Curly hair, Large for gestational age, Cryptorchidism, Feeding difficulties, Thrombocytopenia, De... OMIM:616638
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, C... OMIM:620005
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... ORPHA:810
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pustule, Pruritus, Erythroderma, Abnormality of the nail ORPHA:2897
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Alopecia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Iri... ORPHA:227990
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Diarrhea, Chronic diarrhe... OMIM:614602
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c... ORPHA:217260
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,... ORPHA:298
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Failure to thriv... OMIM:609981
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... ORPHA:178320
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous ... OMIM:175500
Ichthyosis With Confetti
Pruritus, Hypoplastic nipples, Erythroderma, Decreased body weight, Hypertrichosis OMIM:609165
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Conjunctivitis, Cirrhosis, Erythroderma, Sparse hair, Failure to thrive, Fragile nails OMIM:242150
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... ORPHA:227982
Meige Disease
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... ORPHA:90186
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... OMIM:266265
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Pruritus ORPHA:505
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A... OMIM:607115
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Congenital exfoliative erythroderma, Ec... ORPHA:33364
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... ORPHA:141152
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Lymphaden... ORPHA:2221
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Erythroderma OMIM:618840
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Increased circ... ORPHA:343
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Asplenia, Cerv... OMIM:614034
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Alopecia, Hepatomegaly, Myositis, Pericarditis, Sk... ORPHA:809
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati... ORPHA:70578
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte physiol... ORPHA:99867
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice... ORPHA:79477
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... ORPHA:391487
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Immunodeficiency 9
Hypoplasia of the thymus, BCGitis, Recurrent infections OMIM:612782
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Failure to thrive, Brittle hair, Increased circulating IgA level, Bilateral ... OMIM:616395
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Jaundice, Diarrhea, Lymphadenopathy, Anemia, Thromboc... ORPHA:858
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair OMIM:242300
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive, Malabsorption ORPHA:1954
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... ORPHA:319487
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Aspergillosis
Sinusitis, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction... ORPHA:1163
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Mening... ORPHA:464370
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Increased ci... OMIM:618523
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent aphthous ... OMIM:613960
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... ORPHA:97290
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Abnormality of... ORPHA:33276
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased inflammatory response,... ORPHA:158061
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Splen... ORPHA:90051
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Skin rash, Fluctu... OMIM:610377
Intussusception
Intussusception OMIM:147710
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Hypertrichosis, Bronchiectasi... OMIM:210900
Ichthyosis Prematurity Syndrome
Pruritus, Alopecia of scalp, Allergic rhinitis, Erythroderma OMIM:608649
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Abdominal pain,... ORPHA:829
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Hepatic necrosis, Premature ... OMIM:127550
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Micr... ORPHA:398063
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial i... ORPHA:158048
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, L... OMIM:306400
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... ORPHA:275761
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Moynahan Syndrome
Sparse hair, Alopecia, Cachexia ORPHA:2574
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdominal pain, Leukocytosi... OMIM:615688
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Recurrent otitis media OMIM:618948
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Macu... OMIM:619644
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Rhabdoid Tumor
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Anemia, Neoplasm of the liver, L... ORPHA:69077
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Poor appetite, Weight loss ORPHA:312
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Lamellar Ichthyosis
Pruritus, Abnormality of the nail, Erythroderma, Sparse hair, Chronic otitis media, Aplasia/Hypop... ORPHA:313
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro... OMIM:619858
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sple... ORPHA:169090
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Abnormal proportion of CD4-posit... ORPHA:133
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive, Anemia ORPHA:337
Epidermolysis Bullosa Acquisita
Abdominal pain, Abnormal hair morphology, Pruritus, Inflammation of the large intestine, Nail dys... ORPHA:46487
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Chronic diarrhea, Recurrent pneumonia, Bronchi... OMIM:301220
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Lactose intolerance, Large for gestational age, Cryptorchidism, Protuberant abdomen, ... ORPHA:457485
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alop... ORPHA:50918
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Failure to thrive, Oral leuko... OMIM:616353
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... ORPHA:2268
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy, Erythroderma ORPHA:100976
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Abdominal symptom, Eosinophilia, Abscess, Abnormali... ORPHA:400
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Prolidase Deficiency
Hepatomegaly, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Low po... OMIM:170100
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Roifman Syndrome
Hepatomegaly, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Prominent eyelashes, Lymph... OMIM:616651
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... ORPHA:29073
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Anorex... OMIM:181000
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Acanthocytosis OMIM:604777
Brucellosis
Liver abscess, Anorexia, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Abnorm... ORPHA:1304
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Pruritus, Weight loss, Ar... ORPHA:324964
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... ORPHA:1008
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... ORPHA:90045
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infancy, Splenom... OMIM:257200
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced p... OMIM:617443
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Secretory diarrhea, Hepat... OMIM:619573
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocy... ORPHA:514
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Cachexia, High, narrow palate, Cleft palate, Thin eyebro... ORPHA:3242
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr... ORPHA:508533
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Letterer-Siwe Disease
Seborrheic dermatitis, Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, S... OMIM:246400
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, My... ORPHA:549
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy ORPHA:50251
Q Fever
Anorexia, Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculop... ORPHA:781
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Recurrent bact... OMIM:214500
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Gastrointestinal hemorrhage, Osteomyelitis, Abnormal finger... ORPHA:2796
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Oliver-Mcfarlane Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ... OMIM:275400
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Recurrent infections, Type I diabetes mellitus, Panhypogammaglobulinemia ORPHA:251009
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatomegaly, Villous atrophy, Pericarditis, Feeding difficultie... OMIM:212065
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno... ORPHA:85414
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Alopecia, Aplastic anemia, Cryptorchidism, Fine hair, Premature graying of hair, Le... OMIM:613990
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy OMIM:254400
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding diff... OMIM:253260
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Dubowitz Syndrome
Sparse scalp hair, Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velo... OMIM:223370
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,... ORPHA:67
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Neutro... OMIM:617827
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Reynolds Syndrome
Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivitis sicca,... ORPHA:779
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... ORPHA:36238
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Severe B lymphocytopenia, Failure to thrive, Alopecia totalis, Decreased response to gr... ORPHA:293978
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz... OMIM:609536
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Small for gestational age, Cryptorchidism, Recurrent pneumonia, ... OMIM:607143
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Abdominal pain, Malabsorption, Diarrhea, Decreased circulat... OMIM:226300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Premature graying of hair, Gastroesop... OMIM:614742
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... ORPHA:179494
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Chronic active hepatitis, Atrophic gastritis, Malabsorption, Asplen... OMIM:240300
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leuk... ORPHA:536
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair, Failure to thrive OMIM:302960
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Feeding difficulties in infancy, Decreased circulating antibody level, Long eyelash... OMIM:606056
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... ORPHA:449400
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Hepatomegaly, Dyspepsia, Primary testicular failure, G... ORPHA:85450
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Alopecia ORPHA:90156
Myeloma, Multiple
Paraproteinemia OMIM:254500
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... OMIM:612649
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Pruritus, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnormal intrahepatic bile ... ORPHA:562639
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Abnormal hair morphology, Weight loss, Abnormality of the nail, Abnormal tes... ORPHA:317
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrob... ORPHA:1451
Wilson Disease
Acute hepatic failure, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Increased body weight, Hep... ORPHA:905
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Abdominal pain, Malab... ORPHA:2070
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Increased circulating interleukin... ORPHA:160
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Angiostrongyliasis
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Pruritus, Hy... ORPHA:74
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Prostatiti... ORPHA:449432
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, Chronic pulmonary obstruction, P... OMIM:613490
Microlissencephaly
Pneumonia ORPHA:1083
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Leukopenia, Conjunctivitis, Vomitin... ORPHA:454836
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Pruritus, Leuk... ORPHA:293173
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Abdominal pain, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight... ORPHA:520
Christianson Syndrome
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia, Thick eyebrow ORPHA:85278
Immunodeficiency 77
Gastroparesis, Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic p... OMIM:619223
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Intestinal malrotation, Pulmon... ORPHA:244
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... ORPHA:3363
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Unusual skin infection, Pneumonia, Liver abscess... ORPHA:31202
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... ORPHA:131
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Feeding difficulties, Erythroderma OMIM:609180
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic cysts, A... ORPHA:284
Insulin-Resistance Syndrome Type B
Alopecia, Enlarged ovaries, Skin rash, Abnormality of body weight, Decreased circulating compleme... ORPHA:2298
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Mcdonough Syndrome
Cryptorchidism, Synophrys, Cachexia ORPHA:2471
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Dyspnea, Diarrhea, Meningitis, Sple... ORPHA:36412
Epidermolytic Hyperkeratosis 2
Erythroderma OMIM:620150
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Copper Deficiency, Familial Benign
Curly hair, Seborrheic dermatitis, Early balding, Failure to thrive, Anemia OMIM:121270
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Alopecia, Eczema, Anorexia, Weight loss, Keratoconjunctivitis, Thrombocytope... ORPHA:79242
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Sepsis, Anemia, Arthritis, Recurrent... OMIM:620321
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm... ORPHA:424019
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Anorectal anomaly, Premature graying of hair, Periodontit... ORPHA:1775
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting, Chronic l... OMIM:616809
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo... ORPHA:2902
H Syndrome
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Microcytic anemia, Malabsorption,... ORPHA:168569
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Synophrys, Hypertrichosis, Cleft palate, Decreased circulating antibody level ORPHA:85317
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 10
Nail dysplasia, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Linear Iga Dermatosis
Inflammation of the large intestine, Epistaxis ORPHA:46488
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Scrub Typhus
Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Lymp... ORPHA:83317
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Chronic diarrhea, Bronchiectasis, Recurrent upper r... OMIM:619446
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... ORPHA:79078
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Decreased circulating ... OMIM:248500
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
L-Ferritin Deficiency
Alopecia OMIM:615604
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Anorexi... ORPHA:33226
Postinfectious Vasculitis
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... ORPHA:48435
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Poems Syndrome
Abnormality of skin physiology, Leukonychia, Lymphadenopathy, Weight loss, Increased circulating ... ORPHA:2905
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Low anterior hairline, L... ORPHA:99812
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... ORPHA:228119
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... OMIM:142680
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal large intestine morpholo... ORPHA:2198
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Increased circulating inter... OMIM:256040
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Abdominal pain, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Testic... OMIM:235200
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iro... OMIM:269200
Harlequin Ichthyosis
Erythroderma ORPHA:457
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... OMIM:615846
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S... ORPHA:32960
Hennekam Syndrome
Sparse axillary hair, Malabsorption, Splenomegaly, Pyloric stenosis, Pulmonary lymphangiectasia, ... ORPHA:2136
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, A... ORPHA:935
Tetrasomy 12P
Cachexia, Sparse eyebrow, Abnormal soft palate morphology, Sparse hair, Anal atresia ORPHA:884
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... ORPHA:289390
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia ORPHA:2582
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Cutaneous Mastocytoma
Maculopapular exanthema, Abdominal pain, Pruritus, Diarrhea, Lymphadenopathy, Vomiting, Nausea ORPHA:79455
Lambert Syndrome
Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circulating antibody level, Intrah... ORPHA:1296
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... ORPHA:36234
Pemphigus Foliaceus
Psoriasiform dermatitis, Pustule, Pruritus, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Trichohepatoenteric Syndrome 1
Villous atrophy, Brittle hair, Hepatic fibrosis, Sparse hair, Intractable diarrhea, Bifid uvula, ... OMIM:222470
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infectio... OMIM:617303
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Nasogastric tube feeding in infancy, Dyspnea,... ORPHA:90117
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter ORPHA:142
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Elevated circulating thyro... OMIM:242900
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... OMIM:267700
Idiopathic Pulmonary Fibrosis
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph... ORPHA:2032
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Feeding difficulties in infancy, Atopic de... OMIM:618624
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Hypopigmentation of hair, Failure to thrive, Albini... OMIM:242840
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Leukocytosis, Schistocyto... ORPHA:90038
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre... OMIM:619445
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... OMIM:618165
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... OMIM:617091
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Plague
Glossitis, Hepatomegaly, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Sple... ORPHA:707
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma mo... ORPHA:1332
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Recurrent absce... ORPHA:436252
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Decreased n... OMIM:617092
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, Membrano... ORPHA:91139
Duodenal Atresia
Duodenal atresia OMIM:223400
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus OMIM:214110
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... ORPHA:811
Nicolaides-Baraitser Syndrome
Alopecia, Eczema, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, ... ORPHA:3051
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft palate, Nail dystrophy, T... ORPHA:2890
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss, Bronchiectasis, Lymphadenopathy ORPHA:411703
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Spleno... ORPHA:379
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... ORPHA:33577
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Feeding difficulties, Sparse or absent... ORPHA:217346
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Highly arched eyebrow, Protruding tongue, Synophrys, Decreased circulating ant... OMIM:617062
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, C... ORPHA:52417
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Impaired T cell function, Poor appetite, Splenomegaly, Paronychi... OMIM:201100
Alg12-Cdg
Intestinal malrotation, Partial absence of specific antibody response to Haemophilus influenzae t... ORPHA:79324
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Diarrhea, Vomiting, Decreased liver function, Hepatic steatosis ORPHA:42
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout, Inflammation of the large int... OMIM:232220
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Cirrhosis, Hepatocellular carcinoma, Facial hypertrichosis OMIM:176100
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis... ORPHA:77259
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... ORPHA:99772
Cortisone Reductase Deficiency 1
Alopecia, Acne, Obesity, Hirsutism OMIM:604931
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ... ORPHA:79153
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... OMIM:616037
Nephroblastoma
Neoplasm of the liver, Abdominal pain, Weight loss, Lymphadenopathy ORPHA:654
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor... ORPHA:760
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron... OMIM:604571
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hypochromic microcytic anemia, Hepatospl... ORPHA:96123
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr... ORPHA:449395
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Abdominal pai... ORPHA:2357
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... ORPHA:69735
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Impaired T cell function, Abnormal lymphocyte physi... ORPHA:1830
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... ORPHA:167
Monosomy 18Q
Bilateral cryptorchidism, Low anterior hairline, High palate, Failure to thrive, Slender build, S... ORPHA:1600
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal e... ORPHA:2575
Flynn-Aird Syndrome
Alopecia, Cachexia ORPHA:2047
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ... ORPHA:346
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys... OMIM:158350
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Superficial dermal perivascular inflam... ORPHA:83617
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Congenital hepatic fibrosis, Esophage... ORPHA:974
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Nail dystrophy OMIM:616487
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas OMIM:615704
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenome... ORPHA:2072
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Re... ORPHA:79076
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... ORPHA:2985
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Cachexia, A... ORPHA:647
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology, Bronchiectasis, Weight loss ORPHA:1164
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Inte... OMIM:603041
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... ORPHA:508542
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia ORPHA:2483
Thyroid Lymphoma
Goiter, Hashimoto thyroiditis, Dysphagia, Lymphadenopathy ORPHA:97285
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Gastroparesis, Dec... ORPHA:79329
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi... OMIM:618278
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, Lymphadenopathy, Hepato... ORPHA:85408
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, High, narrow palate, Nasogastric tube feeding in infancy, Obesity, Decreased ... ORPHA:369837
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement d... ORPHA:449427
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Weight loss... ORPHA:99978
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Narrow palate, High palate, Cachexia OMIM:618186
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Poor appetite... ORPHA:100075
Say-Barber-Miller Syndrome
Abnormality of the hairline, Highly arched eyebrow, Eczema, Sparse eyebrow, Cryptorchidism, Eryth... ORPHA:3132
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Anorexia, Feeding difficulties in infancy, Splenomegaly, Leukopenia, Slen... ORPHA:1328
Giant Cell Arteritis
Alopecia, Pericarditis, Anorexia, Abdominal pain, Mediastinal lymphadenopathy, Weight loss, Arthr... ORPHA:397
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased... OMIM:620045
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Skin rash, Abdo... ORPHA:342
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac... ORPHA:100082
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Meconium ileus, Ma... ORPHA:586
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac... ORPHA:100080
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... ORPHA:371364
Zika Virus Disease
Increased circulating IgM level, Infectious encephalitis, Thrombocytopenia, Meningitis ORPHA:448237
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Decreased circulating antibody level, Anemia, Feeding diffic... ORPHA:79396
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Mediastinal lymphadenopathy, Pneumothorax, Splenomegaly, Bronchiectasi... OMIM:612387
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss ORPHA:1979
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Orchitis, Retroperitoneal... ORPHA:449563
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal pleura morphology, Abdo... ORPHA:29207
Incontinentia Pigmenti
Ridged nail, Alopecia, Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Keratitis, Le... OMIM:308300
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Dysgammaglobulinemia, Recurrent ... OMIM:251260
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous c... OMIM:158310
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr... ORPHA:88
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm... ORPHA:729
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Alopecia, Esophageal stricture, Malnutrition, Dysphagia, Abno... OMIM:226600
Dyskeratosis Congenita, X-Linked
Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Conjunctivitis, Split nai... OMIM:305000
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia ORPHA:1933
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Alopecia, Small for gestational age, Microcytic anemia, Episodic vomiti... ORPHA:2959
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic... ORPHA:100078
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia, Nasogastric tube feeding OMIM:619057
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... OMIM:188400
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin... ORPHA:44890
Hemochromatosis, Type 3
Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Familial Thrombocytosis
Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thromb... ORPHA:71493
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhea, Abdominal distention, ... OMIM:620233
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Alopecia, Absent eyebrow, Hepatomegaly, Splenomegaly, Jaundice, Loss of eyelash... OMIM:263700
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Glossitis, Anorexia, Poor appetite, Pustule, ... ORPHA:37
Hereditary Orotic Aciduria
Splenomegaly, Abnormal toenail morphology, Impaired T cell function, Anemia ORPHA:30
Hermansky-Pudlak Syndrome 1
Epistaxis, Abdominal pain, Hematochezia, Restrictive ventilatory defect, Inflammation of the larg... OMIM:203300
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Pancreatoblastoma
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Weight loss, Abnormal lymph node morpho... ORPHA:677
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpho... ORPHA:99826
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Abnormal testis morphology, Sparse body hair, Apla... ORPHA:202
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Chronic neutropenia, Diarrhea, Hepatocellular adenoma, Gout, Polycystic ovaries, In... ORPHA:79259
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic... ORPHA:35858
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Sepsis, Conjun... ORPHA:31204
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... ORPHA:157798
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Eczema, Recurrent skin inf... OMIM:308205
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir... OMIM:301072
Viss Syndrome
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... OMIM:619472
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:470
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Recurrent ... ORPHA:171876
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern, Malabsorption, Abnormality of the pancreas, Anteriorly placed an... ORPHA:2315
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology ORPHA:281090
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent otitis medi... OMIM:607944
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Esophageal varix, Rec... ORPHA:64743
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair, High palate, Failure to thrive ORPHA:50812
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... OMIM:619418
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
22Q11.2 Deletion Syndrome
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the t... ORPHA:567
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thick hair, Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Ma... ORPHA:505248
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... OMIM:250250
Lymphatic Filariasis
Glomerulonephritis, Circulating immune complexes, Lymphadenitis, Orchitis, Abnormality of the lym... ORPHA:2035
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Increased hepatitis B virus antibody level, Abnormal liver sonography, Abdominal ... ORPHA:90003
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ... OMIM:612843
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Pruritus, Jaundice, Chronic diarrhea, Weight loss,... ORPHA:65682
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Sepsis, Anemia, Leukopenia,... ORPHA:292
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Onycholysis, Abnormal intestine mo... ORPHA:525
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Cleft palate, Hepatosplenome... OMIM:274000
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Crimean-Congo Hemorrhagic Fever
Anorexia, Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis, Morbillifor... ORPHA:99827
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Sarcoidosis
Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial nephritis, Hemolytic anemia, Alop... ORPHA:797
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Tuberculosis
Weight loss ORPHA:3389
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficulties, Gastroesop... ORPHA:813
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Elevated circulating growth hormon... ORPHA:97287
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
X-Linked Intellectual Disability, Cabezas Type
Cachexia, Abnormal hair pattern, Synophrys, Obesity, High palate, Decreased testicular size ORPHA:85293
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infections, Macroglossia, Recurrent gastro... ORPHA:309288
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im... OMIM:618063
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Weight loss, Kerato... ORPHA:79128
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Celiac disease, Abdominal distention, Jaund... ORPHA:186
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Recurrent pneumonia, Hypoplasia of the thymus, Adrenal hypoplasia OMIM:613177
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe failure to thrive, Alopecia, Cleft palate OMIM:215100
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... ORPHA:100086
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus, Constipation, Cachexia ORPHA:52503
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitonea... OMIM:602782
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Hepatosplenomegaly, Respiratory failure, Dyspha... ORPHA:2590
Leukocyte Adhesion Deficiency Type Ii
Broad eyebrow, Hepatomegaly, Neutrophilia, Small for gestational age, Severe periodontitis, Abnor... ORPHA:99843
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
Behçet Disease
Myositis, Anorexia, Infectious encephalitis, Acne, Abdominal pain, Retrobulbar optic neuritis, Ly... ORPHA:117
Gm1 Gangliosidosis
Splenomegaly, Hepatosplenomegaly, Weight loss, Macroglossia, Feeding difficulties, Gastroesophage... ORPHA:354
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Membranoproliferative glomerulonep... OMIM:137940
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Takayasu Arteritis
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ... ORPHA:3287
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Chronic diarrhea, Lymphadenopathy, Anemia, Hepat... ORPHA:333
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Sickle Cell Disease
Hemolytic anemia, Abdominal pain, Splenomegaly, Leukocytosis, Splenic infarction, Hypoxemia, Recu... OMIM:603903
Pelizaeus-Merzbacher Disease
Bowel incontinence, Failure to thrive in infancy, Cachexia ORPHA:702
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Vomiting, Gastroesophageal r... ORPHA:206436
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Cleft palate, Abnormal toenail morphology ORPHA:494
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Tachypnea, Gastroesophageal reflux, Respiratory arrest, Episodic vomiting OMIM:201475
Congenital Factor Xiii Deficiency
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine ORPHA:331
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertension... OMIM:619487
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... ORPHA:79126
Kawasaki Disease
Nausea and vomiting, Abnormality of nail color, Pericarditis, Skin rash, Abdominal pain, Myocardi... ORPHA:2331
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Glomerulonephritis, Abdominal pain, Intestinal perforation... ORPHA:90068
Cockayne Syndrome
Hepatomegaly, Dry hair, Cachexia, Feeding difficulties in infancy, Cryptorchidism, Splenomegaly, ... ORPHA:191
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Splenomegaly, Weight loss,... ORPHA:465508
Carcinoid Syndrome
Nausea and vomiting, Chronic noninfectious lymphadenopathy, Lack of bowel sounds, Hepatic necrosi... ORPHA:100093
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... ORPHA:662
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Pr... OMIM:619377
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Adrenal hyperplasia, Acne, Increased body weight, Hirsutism OMIM:615830
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction... ORPHA:183
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Pruritus, Bi... OMIM:613471
Rothmund-Thomson Syndrome
Aplastic anemia, Sparse eyelashes, Alopecia totalis, Small for gestational age, Sparse eyebrow, N... ORPHA:2909
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Pancreatitis ORPHA:188
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Anemia, Decreased circulating complement C3 concentration, Decreased c... ORPHA:90060
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash, Feeding difficulties in infancy, Vomiting, Thrombocytopenia OMIM:253270
Al Amyloidosis
Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Howell-Joll... ORPHA:85443
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Nail dystrophy, Atrichia, ... ORPHA:1867
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Failure to thrive in infancy, ... ORPHA:388
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Diarrhea, Weight loss, Failure to thrive, Anemia ORPHA:1842
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Anemia OMIM:208060
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Follicular hyperplasia... ORPHA:556
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Gastrointestinal hemorrhage, Hepatomegaly, Failure to thrive in infancy, Poor appetite, Jaundice,... ORPHA:247598
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic... ORPHA:97280
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections OMIM:601005
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Neutropenia, Bronchiectasis, Respiratory insufficiency, Feeding difficulties, Aspiration p... OMIM:618253
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Esophageal stenosis... ORPHA:1018
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Cleft palate OMIM:164180
Leigh Syndrome
Alopecia, Eczema, Gastrointestinal dysmotility, Hepatic failure, Dysphagia, Feeding difficulties,... ORPHA:506
Rett Syndrome
Constipation, Gastroesophageal reflux, Cachexia OMIM:312750
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Hereditary Mucoepithelial Dysplasia
Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Fine hair, Furrowed tongue, Sparse hair ORPHA:1839
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm ORPHA:50944
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia, Weight loss ORPHA:1302
Alstrom Syndrome
Hepatomegaly, Alopecia, Chronic active hepatitis, Decreased response to growth hormone stimulatio... OMIM:203800
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Skin rash, Abnormal... ORPHA:464
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Testicular mass, Uveitis,... ORPHA:548
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Alopecia, Hashimoto thyroiditis, Celiac disease ORPHA:3143
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous... ORPHA:109
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Tick-Borne Encephalitis
Meningitis, Leukocytosis, Unusual CNS infection, Leukopenia, Increased circulating IgG level, Inc... ORPHA:297
Hypomelanosis Of Ito
Alopecia OMIM:300337
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Rift Valley Fever
Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Uveitis, Anemia, Increased circulating IgG... ORPHA:319251
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Nausea and vomiting, Eosinophilia, Anor... ORPHA:199299
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenome... ORPHA:75565
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Hepatomegaly, Abdominal colic, Functional intestinal obstruction, Chronic no... ORPHA:100079
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Alopecia, Barr... ORPHA:90291
Kury-Isidor Syndrome
Alopecia, Feeding difficulties, High palate, Recurrent otitis media, Hypertrichosis OMIM:619762
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Alopecia, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphology, Hepatic... ORPHA:98907
Huntington Disease-Like 2
Weight loss ORPHA:98934
Schwartz-Jampel Syndrome
Decreased testicular size, Abnormal eyebrow morphology, Decreased body weight, Cachexia, Feeding ... ORPHA:800
Pachyonychia Congenita
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Feeding difficulties, Finger... ORPHA:2309
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia ORPHA:861
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neopl... ORPHA:424016
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... ORPHA:2538
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h... ORPHA:75389
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Trisomy 18
Cachexia, Cryptorchidism, Esophageal atresia, Cleft palate, Narrow palate, Abnormal toenail morph... ORPHA:3380
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... ORPHA:2176
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... ORPHA:454831
Bresek Syndrome
Alopecia, Aganglionic megacolon, Cryptorchidism, Cleft palate, Decreased testicular size ORPHA:85284
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Abdominal pain, Hepatosplenomeg... ORPHA:31150
Fumarase Deficiency
Necrotizing enterocolitis, Intrahepatic cholestasis, High palate, Hepatic failure, Failure to thr... OMIM:606812
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Alopecia totalis, Feeding difficulties in infancy, Normochromic anemia... OMIM:618775
Satoyoshi Syndrome
Diarrhea, Alopecia, Alopecia universalis, Malabsorption OMIM:600705
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate, Sparse hair, Failure to thrive ORPHA:2316
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Alopecia, Pancreatitis, Dysphagia ORPHA:412057
Gaisböck Syndrome
Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obes... ORPHA:90041
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Chromomycosis
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Abnormal lung morphology ORPHA:182
African Trypanosomiasis
Hepatomegaly, Alopecia, Pericarditis, Keratitis, Splenomegaly, Jaundice, Myocarditis, Diarrhea, P... ORPHA:3385
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory tract infection... OMIM:232240
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla... ORPHA:544488
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... ORPHA:744
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Velopharyngeal insuffi... OMIM:129400
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, X... ORPHA:90340
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Acne, Pituitary adenoma, Primary hyperparathyroidism, Increased body weight, Abdominal ... ORPHA:189427
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Malabsorption, Gastric ulcer, An... ORPHA:3463
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Chronic mucocu... ORPHA:3453
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Pruritus, Cervical lymphadenopathy, Diarrhe... ORPHA:324625
Cystic Fibrosis
Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Re... OMIM:219700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Premature graying of hair, Anemia, Nail dystrophy, Lymphopen... OMIM:620365
Gomez-Lopez-Hernandez Syndrome
Alopecia, High palate, Decreased response to growth hormone stimulation test OMIM:601853
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Macs Syndrome
Alopecia, Sparse eyebrow, Cryptorchidism, Bronchiectasis, High palate, Recurrent aphthous stomati... OMIM:613075
Colchicine Poisoning
Alopecia, Myocarditis, Leukocytosis, Diarrhea, Vomiting, Nausea ORPHA:31824
Cartilage-Hair Hypoplasia
Hepatomegaly, Aganglionic megacolon, Malabsorption, Sparse eyebrow, Abnormality of the pancreas, ... ORPHA:175
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Congenital hypoparathyroidism, Anemia OMIM:244460
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dysphagia ORPHA:52368
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Feeding difficulties, Recurrent infections, Gastroesophageal reflu... ORPHA:79243
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Cholestasis, Hepatosplenomegaly, Feeding difficulties, Hepatic fibrosis, Esophagitis, Hepatic fai... ORPHA:541423
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97283
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Diarrhea, Vomit... OMIM:610768
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Feeding difficulties in infancy, Microvesicular hepatic stea... OMIM:613070
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Recurrent bacterial infect... OMIM:241410
Orofaciodigital Syndrome Viii
High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:300484
Gaucher Disease, Type Ii
Apnea, Cough, Thrombocytopenia, Splenomegaly, Feeding difficulties, Stridor, Gastroesophageal ref... OMIM:230900
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... ORPHA:1855
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Seborrheic dermatitis, Feeding difficulties, Vomiting, Failure to thrive OMIM:210210
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Seborrheic der... ORPHA:276280
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Bilateral cleft lip and palate, Dystrophic toenail, N... ORPHA:3253
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Anorexia, Pruritus, Abdominal distention, Jaundice... ORPHA:370348
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Alopecia totalis, Small for gestational age, Cryptorchidism, Diarrhea, Cleft pal... ORPHA:221016
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Alopecia totalis, Small for gestational age, Cryptorchidism, Diarrhea, Functiona... ORPHA:221008
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... ORPHA:340
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Small pituitary gland OMIM:612079
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Tube feeding ORPHA:79264
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ... OMIM:268400
Monosomy 18P
Alopecia, Cleft palate, Low posterior hairline ORPHA:1598
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Japanese Encephalitis
Neutrophilia, Increased circulating IgM level, Increased circulating antibody level, Inappropriat... ORPHA:79139
Distal Deletion 19P
Cleft palate, Alopecia, Thick eyebrow, Decreased circulating antibody level ORPHA:96129
Addison Disease
Normocytic anemia, Hypoparathyroidism, Nausea and vomiting, Primary testicular failure, Sparse ax... ORPHA:85138
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Leukocytosis, Jaundice, ... ORPHA:20
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Intestin... ORPHA:537
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Failure to thrive, Recurrent skin infections, Pneumonia, Paronychia, Esophageal strictu... ORPHA:79404
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Small nail OMIM:614219
Esophageal Atresia
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... ORPHA:1199
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Lujo Hemorrhagic Fever
Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Fulminant hepatitis, Odynophagia, ... ORPHA:319213
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Otitis media, Chronic r... ORPHA:667
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Nausea, Alopecia, Abdominal pain, Bronc... ORPHA:99921
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Supernumerary nipple ORPHA:3224
Loeffler Endocarditis
Pericarditis, Eosinophilia, Weight loss ORPHA:75566
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Alopecia, Pericarditis, Skin rash, Abdominal pain, Pruritu... ORPHA:93672
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism OMIM:617746
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... ORPHA:70
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... ORPHA:97282
Mandibulofacial Dysostosis With Alopecia
Glossoptosis, Alopecia, Sparse eyelashes, Cleft palate OMIM:616367
Stevens-Johnson Syndrome
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abnormality of neutrophi... ORPHA:36426
Candidiasis, Familial, 8
Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis OMIM:615527
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni... ORPHA:314655
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopeni... OMIM:603467
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, High, narrow palate, Obesity, Mac... ORPHA:369950
Mucolipidosis Type Ii
Dry hair, Splenomegaly, White hair, Fine hair, Hepatosplenomegaly, Weight loss, Otitis media, Pro... ORPHA:576
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97278
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... ORPHA:64744
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Keutel Syndrome
Recurrent otitis media, Alopecia, Recurrent sinusitis ORPHA:85202
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Leukocytosis... ORPHA:99829
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Recurrent infections, Increased mean corpuscular volume, Esophag... OMIM:612562
Leptospirosis
Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, Anorexia, Abdominal pain, Jaundice, D... ORPHA:509
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Short Syndrome
Sparse hair, Alopecia, Poor appetite, Weight loss ORPHA:3163
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Cryptorchidism, High, narrow palate, Low posterior hairline, Sparse h... OMIM:619745
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... OMIM:607823
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Vici Syndrome
Decreased circulating IgG level, Feeding difficulties in infancy, Feeding difficulties, High pala... ORPHA:1493
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis OMIM:275630
Beta-Ketothiolase Deficiency
Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Weight loss, Vomiting, Thrombocytosis ORPHA:134
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Williams Syndrome
Colonic diverticula, Recurrent respiratory infections, Recurrent urinary tract infections, Peptic... ORPHA:904
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp... OMIM:261990
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Cryptorchidism, Alopecia, Fine hair ORPHA:228390
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:913
Mosaic Trisomy 9
Asplenia, Cryptorchidism, Abnormal liver lobulation ORPHA:99776
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Cleft soft palate, Intestinal malrotation, Leukocytosis, Abdominal obesity, Hypoplasia ... OMIM:619321
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Feeding difficulties, Small nail ORPHA:166035
Isaacs Syndrome
Weight loss ORPHA:84142
Lynch Syndrome
Neoplasm of the pancreas, Intestinal polyposis, Pancreatic adenocarcinoma, Nausea and vomiting, G... ORPHA:144
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary OMIM:241090
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Weight loss, Failure to thrive, Anemia OMIM:256700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Sepsis, Normochromic anemia ORPHA:247691
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Mowat-Wilson Syndrome
Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Cryptorchidism,... ORPHA:2152
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:99413
Mosaic Monosomy X
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:99228
Monosomy X
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:99226
Turner Syndrome
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:881
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Seckel Syndrome
Sparse scalp hair, Cachexia ORPHA:808
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... OMIM:608710
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Low anterior hairline, Hirsuti... OMIM:617137
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Nausea and vomiting, Pancreatic adenocarcinoma, Neoplasm of the colon, ... ORPHA:440437
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, High, na... ORPHA:2108
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Osteomyelitis, Pulmonary embolism, Increased pulmonary vascular resistanc... ORPHA:70591
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture, Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux,... ORPHA:79351
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:614441
Huntington Disease-Like 2
Weight loss OMIM:606438
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Failure to thrive, Small for gesta... OMIM:264090
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Granulomatosis With Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Intestinal obstruction... ORPHA:900
Graves Disease, Susceptibility To, 1
Weight loss, Onycholysis, Goiter OMIM:275000
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Hennekam-Beemer Syndrome
Pneumonia, Abdominal pain, Respiratory insufficiency, High palate, Vomiting, Mastocytosis ORPHA:2135
Ane Syndrome
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, R... ORPHA:157954
Vitamin D-Dependent Rickets, Type 2A
Protuberant abdomen, Failure to thrive, Secondary hyperparathyroidism, Alopecia universalis OMIM:277440
Olmsted Syndrome 2
Pruritus, Cheilitis, Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Transketolase Deficiency
Hepatomegaly, Conjunctivitis, Uveitis, Seborrheic dermatitis ORPHA:488618
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism, Decreased circulating IgG level, Neutropenia OMIM:271510
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... ORPHA:2269
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, High, narrow palate, Hypoplastic nipple... OMIM:230740
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Blepharitis, Alopecia totalis OMIM:300918
Mandibuloacral Dysplasia
Alopecia, Abnormal tongue morphology, High palate, Sparse hair, Hypoplastic fingernail ORPHA:2457
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Anorexia, Abdominal pain, Malabsorption, W... ORPHA:79430
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Interstitial pneumonitis, Respi... ORPHA:330021
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Nasogastric tube feed... OMIM:106260
Juvenile Huntington Disease
Weight loss ORPHA:248111
Olmsted Syndrome 1
Subungual hyperkeratosis, Pruritus, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia univers... OMIM:614594
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Abnormal fingernail morphology ORPHA:1647
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Arthritis, Eczematoid dermatitis, High palate, Seborrheic dermatitis OMIM:259100
Stickler Syndrome
Cachexia, Feeding difficulties in infancy, Osteoarthritis, Short hard palate, Uveitis, Cleft pala... ORPHA:828
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pai... ORPHA:91500
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia, Dysphagia ORPHA:216866
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive OMIM:605676
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia OMIM:619657
Relapsing Polychondritis
Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... ORPHA:728
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflamm... ORPHA:49041
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Anorexia, Abdominal pain, Weight loss, A... ORPHA:732
Lassa Fever
Increased circulating IgM level, Jaundice, Sepsis ORPHA:99824
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair, High palate OMIM:608612
Cherubism
Narrow palate, Submandibular lymph node enlargement OMIM:118400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Se... ORPHA:95455
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachyp... ORPHA:26793
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia, Bowel incontinence OMIM:600142
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Small intestinal dysmotility, Apnea, Feeding difficulties, Hypopnea, Chronic con... OMIM:619482
Bartsocas-Papas Syndrome
Alopecia totalis, Hypoplastic toenails, Cleft palate, Sparse or absent eyelashes, Aplasia/Hypopla... ORPHA:1234
Velocardiofacial Syndrome
Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Velopharyngeal insufficiency, Submu... OMIM:192430
Ameloonychohypohidrotic Syndrome
Onycholysis, Seborrheic dermatitis OMIM:104570
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Adrenal hyperplasia, Pneumonia, Vomiting, Macroorchidism ORPHA:90790
Huntington Disease
Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss ORPHA:399
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Hamartoma of tongue, Pancreatic cysts, Abnormality of the pancreas, Cleft... ORPHA:2750
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:276152
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Sparse p... ORPHA:2232
Orofaciodigital Syndrome I
Alopecia, Dry hair, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian ... OMIM:311200
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... ORPHA:2273
Adrenoleukodystrophy
Alopecia, Bowel incontinence OMIM:300100
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia, Anorexia ORPHA:1969
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Large for gestational age, Seborrheic dermatitis, Microvesicular hepatic steatosis,... OMIM:300868
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Malignant Atrophic Papulosis
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ... ORPHA:679
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Furrowed tongue, Patchy alopecia, High palate, Decreased body weight, Cholelithia... OMIM:300534
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, Chronic constipation, High palate, Recurrent aspir... OMIM:300472
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Alopecia of scalp, Multinodular goiter, Nail dystrophy OMIM:618373
Gapo Syndrome
Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes ORPHA:2067
Limb-Mammary Syndrome
Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr... ORPHA:69085
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Abnormal tongue morphology, Chronic diarrhea, R... ORPHA:158668
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the lymphatic system, Lymphadenopathy... ORPHA:538
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Anterior pituitary hypoplasia ORPHA:453533
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the... ORPHA:3130
Marfan Syndrome
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build ORPHA:558
Focal Myositis
Myositis, Weight loss ORPHA:48918
Cushing Disease
Sparse scalp hair, Adrenal hyperplasia, Acne, Pituitary corticotropic cell adenoma, Leukocytosis,... ORPHA:96253
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Thin nail, Small nail OMIM:242100
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Acne, Testicular adrenal rest tumor, Polycystic ovaries, Hirsutism ORPHA:90795
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology ORPHA:1005
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Weight loss ORPHA:3208
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hyperparathyroidism ORPHA:93160
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Wild Type Attr Amyloidosis
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, In... ORPHA:330001
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Weight loss OMIM:143880
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Impaired T cell function, Recurrent viral infections, Allergic conjunctivitis,... OMIM:176690
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Secretory diarrhea, Decreased circulating antibody level, Hematochezia, Feeding d... OMIM:618183
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Cervical lymphadenopathy... ORPHA:653
Chops Syndrome
Gastroparesis, High, narrow palate, Cryptorchidism, Splenomegaly, Anomalous pulmonary venous retu... OMIM:616368
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Dermatomyositis
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Feeding difficulties in inf... ORPHA:221
Degcags Syndrome
Oral-pharyngeal dysphagia, Leukopenia, Iron deficiency anemia, High palate, Gastroesophageal refl... OMIM:619488
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Acute Adrenal Insufficiency
Normocytic anemia, Nausea and vomiting, Anorexia, Sparse axillary hair, Abdominal pain, Diarrhea,... ORPHA:95409
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Constipation, Aspiration pneumonia ORPHA:35069
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Retroperitoneal fibrosis, Weight l... ORPHA:35687
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D... OMIM:131100
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Abdominal pain, Pericarditis, Weight loss ORPHA:767
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenome... ORPHA:309282
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Non-Functioning Paraganglioma
Episodic abdominal pain, Nausea, Weight loss ORPHA:94080
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Bilateral cryptorchidism, Fine hair, Sparse hair OMIM:613451
Huntington Disease-Like 1
Weight loss ORPHA:157941
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Anal stenosis, Alopecia totalis, Absent eyelashes, B... OMIM:263650
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Increased red blood cell count, Sinusitis, Pneumonia, Pustule, Respirator... ORPHA:68
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Secretory diarrhea, Seborrheic dermatitis OMIM:167100
Biotinidase Deficiency
Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis ORPHA:79241
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, High palate, Breast aplasia ORPHA:90153
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Long uvula, Cryptorchidism, Narrow palate, Keratoconjunctivitis sicca, High palate, Per... ORPHA:536532
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism... OMIM:620186
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Failure to thrive OMIM:614008
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Testi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Testi... ORPHA:363958
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Decreased body weight, Failure to thrive, Abnormal hair morphol... ORPHA:79474
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Sepsis, Leukopenia, Vomiting, Protein-losing enteropathy,... OMIM:619991
Focal Dermal Hypoplasia
Acute hepatic failure, Alopecia, Abdominal pain, Gastroesophageal reflux, Abnormality of the nail... ORPHA:2092
Neuroleptic Malignant Syndrome
Pulmonary embolism, Leukocytosis, Sepsis, Vomiting, Aspiration pneumonia, Dysphagia, Thrombocytos... ORPHA:94093
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Malabsorption, Respiratory tract infection, Splenomegaly, Rec... ORPHA:581
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Hepatomegaly, High palate, Onychogryposis OMIM:248370
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Adrenal hypoplasia, Asplenia, Splenom... OMIM:249000
Cornelia De Lange Syndrome 1
Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosis, Cryptorchi... OMIM:122470
Cholera
Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Abdominal cramps, Vomiting, Aspiration pneumon... ORPHA:173
Cystinosis, Nephropathic
Hepatomegaly, Hypopigmentation of hair, Failure to thrive in infancy, Oral-pharyngeal dysphagia, ... OMIM:219800
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Jaundice, Malnutrition, Weight loss, Chronic calcifying pancre... ORPHA:103918
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Poor appetite, Hypercapnia, Respiratory insufficiency due to mu... ORPHA:2020
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Meckel diverticulum, Aganglionic megacolon, Aplasia/H... ORPHA:84
Autosomal Recessive Robinow Syndrome
Alopecia, Cryptorchidism, Ectopic anus, Long eyelashes, Fingernail dysplasia, Chronic otitis medi... ORPHA:1507
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia OMIM:306955
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Abdominal pain, Abnormality of the nail ORPHA:428
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Mucopolysaccharidosis, Type Vi
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Macroglossia, Chronic cons... OMIM:253200
Steinert Myotonic Dystrophy
Alopecia, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, O... ORPHA:273
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Isotretinoin-Like Syndrome
Lymphopenia, Gastroesophageal reflux, Cleft palate, Feeding difficulties ORPHA:2306
Orofaciodigital Syndrome Ix
High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:258865
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Goiter OMIM:188580
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Uveitis, Arthritis, Patchy alopecia, Gastroesophageal... ORPHA:90289
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp... ORPHA:143
Renal Nutcracker Syndrome
Abdominal pain, Nausea, Anemia, Weight loss ORPHA:71273
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia OMIM:163200
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Goiter OMIM:613239
Familial Glucocorticoid Deficiency
Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight loss, Episodic abdomina... ORPHA:361
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Xeroderma Pigmentosum
Alopecia, Keratitis, Cryptorchidism, Failure to thrive, Blepharitis, Decreased testicular size ORPHA:910
Adrenocortical Carcinoma
Abdominal pain, Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Hyper... ORPHA:1501
Perry Syndrome
Weight loss ORPHA:178509
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... ORPHA:35710
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Pyloric stenosis, Cryptorchidism, Recurrent upper respiratory tr... OMIM:602535
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Abdominal pain, Biliary hyperplasia, Splenomegaly, Abnormality of cytokine secre... ORPHA:567983
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Alopecia OMIM:613001
Combined Oxidative Phosphorylation Deficiency 25
Chronic constipation, Aspiration pneumonia, Feeding difficulties OMIM:616430
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormal hair morphology, Alopecia, Nail dystrophy ORPHA:90154
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Neoplasm of the liver, Constipation, Weight loss ORPHA:2126
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia, Feeding difficulties OMIM:619167
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, Cleft palate, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Hardikar Syndrome
Recurrent urinary tract infections, Cleft soft palate, Intestinal malrotation, Cholangitis, Celia... OMIM:301068
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Sponastrime Dysplasia
Precocious puberty, Recurrent pneumonia, Decreased circulating antibody level, Neutropenia, Hypot... ORPHA:93357
Liposarcoma
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:69078
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia, Feeding difficulties ORPHA:95232
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Autosomal Dominant Robinow Syndrome
Alopecia, Curly eyelashes, Cryptorchidism, High, narrow palate, Long eyelashes, Fingernail dyspla... ORPHA:3107
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Malnutrition, Constipation, Aspiration pneumonia, Dysphagia ORPHA:99027
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia OMIM:265380
8P23.1 Microdeletion Syndrome
Cryptorchidism, High palate, Obesity, Weight loss ORPHA:251071
Choreoacanthocytosis
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Protruding tongue,... ORPHA:2388
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Thyroid hypoplasia, Small nail OMIM:308050
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Bowel incontinence, Asplenia, Cryptorchidism, Pyloric stenosis, Cleft hard... ORPHA:261537
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Episodic abdominal pain, Weight loss, Adrenal pheochromocytoma, Na... ORPHA:276621
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Decreased response to growth hormone stimulation test, Abnor... ORPHA:220386
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Macroglossia, Aspiration pneumonia, Feeding difficulties ORPHA:79255
Osteosarcoma
Weight loss ORPHA:668
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Absent gallbladder, Failure to thrive in infancy, Gastroparesis, Sparse eyebrow, Feed... ORPHA:500150
Fatal Familial Insomnia
Constipation, Dysphagia, Weight loss OMIM:600072
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Abnormal intrahepatic bile duct morp... ORPHA:363618
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Oromandibular Dystonia
Dysphagia, Weight loss ORPHA:93958
Tay-Sachs Disease
Hepatosplenomegaly, Gastrostomy tube feeding in infancy, Aspiration pneumonia, Dysphagia ORPHA:845
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Duodenal ulcer, Intestinal malrotation, Cleft palate, Gastric u... OMIM:135900
Coffin-Siris Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Recurrent infections, Feeding diffi... ORPHA:1465
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Feeding difficulties, Weight loss ORPHA:221098
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne... ORPHA:353281
Opitz Gbbb Syndrome
Enlarged ovaries, Feeding difficulties in infancy, Cryptorchidism, Tracheoesophageal fistula, Cle... ORPHA:2745
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Feeding difficulties, Recurrent Staphylococcus aureus infectio... ORPHA:642
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Cleft palate, Para... ORPHA:2237
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... OMIM:616268
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Highly arched eyebrow, Bowel incontinence, Asplenia, Cryptorchidism, Pylor... ORPHA:261552
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Enlarged pituitary gland, Nausea and vomiting, Elevated circulating growt... ORPHA:91347
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia ORPHA:649
Familial Gestational Hyperthyroidism
Goiter, Diarrhea, Weight loss, Thyroid hyperplasia ORPHA:99819
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Cryptorchidism, Loss of eyelashes, Submucous cleft hard palate, Cleft palate, Thin eyeb... ORPHA:2636
Perry Syndrome
Weight loss OMIM:168605
Ring Chromosome 13 Syndrome
Alopecia, Hypoplasia of the gallbladder, High palate, Anal atresia ORPHA:96176
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Episodic abdominal pain, Weight loss, Adrenal pheochromocytoma, Na... ORPHA:29072
Linear Nevus Sebaceus Syndrome
Alopecia, Adenoma sebaceum ORPHA:2612
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Asthma, Glossoptosis, Macroglossia, Consti... ORPHA:444077
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Gastroparesis, Intestinal pseudo-obstruction, Dysphagia, Weight loss OMIM:607459
Kabuki Syndrome 1
Hemolytic anemia, Anal stenosis, Intestinal malrotation, Malabsorption, Feeding difficulties in i... OMIM:147920
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Intestinal malrotation, Pne... ORPHA:353277
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Alopecia totalis, Osteoarthritis, Loss of eyelashes, Weight loss, Patchy alopecia... ORPHA:740
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis OMIM:109650
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Pyelonephritis, Patchy alopecia, Breast aplas... OMIM:181270
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia ORPHA:2396
Niemann-Pick Disease Type C
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Feedin... ORPHA:646
Trichotillomania
Alopecia OMIM:613229
Ethylene Glycol Poisoning
Gastritis ORPHA:31826
Adams-Oliver Syndrome 1
Cleft palate, Alopecia, Supernumerary nipple, Small nail OMIM:100300
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Decreased testicular size, Fine hair OMIM:241080
Sympathetic Ophthalmia
Alopecia, Posterior uveitis, Poliosis ORPHA:79098
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Dysphagia, Weight loss ORPHA:411602
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Acne, Frontal balding, Testicular adrenal rest tumor, Weight loss, Feeding difficulties, Vomiting... ORPHA:90794
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss ORPHA:99885
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Decreased testicul... ORPHA:3464
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Abnormality of the anterior pitu... ORPHA:438213
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Anal stenosis, Sparse eyelashes, Intestinal malrotation, Supernumera... OMIM:601803
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Testicular microlithiasis, Bronchiectasis, Weight loss ORPHA:60025
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Vascular Ehlers-Danlos Syndrome
Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, High, narrow ... ORPHA:286
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Cleft palate, Narrow palate, Feeding difficulties, Hig... ORPHA:79500
Thyrotoxic Periodic Paralysis
Constipation, Obesity, Weight loss ORPHA:79102
Oculopharyngodistal Myopathy 1
High palate, Dysphagia, Weight loss OMIM:164310
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Goodpasture Syndrome
Glomerulonephritis, Anemia, Weight loss OMIM:233450
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Yunis-Varon Syndrome
Absent nipple, Pyloric stenosis, Cryptorchidism, Feeding difficulties, High palate, Hypoplastic n... OMIM:216340
Pmm2-Cdg
Respiratory distress, Pericarditis, Elevated circulating growth hormone concentration, Feeding di... ORPHA:79318

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 Rag2

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 Rag2.

No publications found that use IMPC mice or data for Rag2.

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

MGI Allele Allele Type Produced
Rag2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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