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Gene: Wipf1 MGI:2178801

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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:
WAS/WASL interacting protein family, member 1
Synonyms:
WIP,  Waspip,  D2Ertd120e

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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 Wipf1 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 Wipf1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906

The table below shows human diseases predicted to be associated to Wipf1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... OMIM:618534
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... OMIM:615559
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr... OMIM:618495
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Celiac disease, D... OMIM:615952
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Chronic di... OMIM:619281
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
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmunity, Aut... OMIM:614470
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, ... ORPHA:37042
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo... OMIM:618394
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Chronic diarrhea,... OMIM:616433
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ... OMIM:613101
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph... ORPHA:397596
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk... OMIM:300635
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo... OMIM:619644
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Systemic lupus erythematosus, Leukopen... OMIM:616871
Candidiasis, Familial, 1
Abnormality of the endocrine system, Cutaneous anergy OMIM:114580
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy... ORPHA:133
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Increased... OMIM:304790
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, N... OMIM:607594
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... ORPHA:60026
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Autoinflammatory-Pancytopenia Syndrome
Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Int... OMIM:619858
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decrease... OMIM:615592
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Renal insufficiency, Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditi... ORPHA:139402
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, ... OMIM:613496
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Rheumatoid factor positive, Tachypnea, Leukopenia, Increased circulating IgG level, Pus... OMIM:615934
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... OMIM:613953
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG le... ORPHA:98813
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Rheumatoid factor positive, Lymphadenitis, Hemolytic anemia, Abscess, Perianal abscess, Hepatospl... OMIM:618935
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Cystic acne... OMIM:604416
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Osteopenia, Aplastic anemia, Eosinoph... ORPHA:486
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Monocytosis, Increased circulating IgM ... ORPHA:2688
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Ileal ul... OMIM:616744
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... ORPHA:444463
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglo... ORPHA:449395
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... OMIM:618986
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ... ORPHA:99931
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab... ORPHA:229717
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... OMIM:209950
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat... OMIM:617638
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p... OMIM:613779
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep... OMIM:618999
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Villous atrophy, Skin rash, Reduced natural killer cell activity, Diffuse alveolar ... OMIM:616050
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec... OMIM:609529
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Diarr... OMIM:240500
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Pure red cell a... ORPHA:99867
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract in... OMIM:616005
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... OMIM:617388
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Increased circulating IgE level, Thyroiditis, Delay... OMIM:618985
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of... OMIM:619126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Osteoporosis, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumo... OMIM:127550
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, Villous atrophy, Tube feeding,... OMIM:619510
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... OMIM:602450
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocyto... OMIM:260920
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe... OMIM:615816
Brucellosis
Liver abscess, Rheumatoid factor positive, Bronchitis, Anorexia, Knee osteoarthritis, Leukopenia,... ORPHA:1304
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Respi... ORPHA:2686
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... ORPHA:100024
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Leukocytosis, Chronic d... OMIM:617099
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi... ORPHA:289390
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... OMIM:102700
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ... ORPHA:91139
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytope... ORPHA:454831
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopa... ORPHA:37748
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Renal cyst, Gout, Focal segmental glomerulosclerosis, Neutropenia, Nephro... OMIM:617056
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Eosinophilia, Pneumonia, Anorexia, Dia... ORPHA:169160
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegaly, Peria... OMIM:612541
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, Anorexia, T lymphocytopenia, ... OMIM:619381
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... OMIM:615285
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:331206
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Flexion contracture, Leukopenia, Macrovesicular hepatic steatosis, Neutrope... OMIM:617303
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proporti... OMIM:606367
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia OMIM:602079
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Lupus anticoag... ORPHA:93552
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Recurrent pharyng... ORPHA:42642
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... OMIM:150550
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... ORPHA:1830
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... OMIM:209920
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Recurrent urinar... OMIM:620210
Myeloma, Multiple
Paraproteinemia OMIM:254500
Squamous Cell Carcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Lymphadenopathy, Cough ORPHA:99977
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Glomerulopa... ORPHA:77297
Cystic Echinococcosis
Abnormal peritoneum morphology, Abdominal symptom, Abnormality of the testis size, Renal cyst, Pe... ORPHA:400
C1Q Deficiency 2
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Atelecta... OMIM:620321
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphade... ORPHA:3392
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastroin... ORPHA:29073
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... ORPHA:47
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit... OMIM:611762
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Increased circulating IgA level, Bilateral cryptorchidism, Pyloric stenosis,... OMIM:616395
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulating antibody... OMIM:614069
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Infectious... ORPHA:391487
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... OMIM:608184
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Abnormal pleura morphology, Limitation of joint mobility, Arthritis, Lymphopenia ORPHA:2582
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... ORPHA:343
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivitis, Vomi... ORPHA:810
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Antinuclear antibody positivity, Dyspnea, Tachypnea, Crescentic glome... OMIM:616414
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Pauci-Immune Glomerulonephritis
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ... ORPHA:93126
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, A... OMIM:617780
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Nephropathy, Hemolytic anemia, Hepatom... ORPHA:809
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Nausea, Abdo... ORPHA:2494
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody ... ORPHA:536
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal... ORPHA:100025
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstructio... OMIM:613490
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Gastr... ORPHA:1572
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Lymphatic Filariasis
Circulating immune complexes, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Cough... ORPHA:2035
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Angiostrongyliasis
Projectile vomiting, Stiff neck, Poor appetite, Increased circulating IgA level, Abdominal pain, ... ORPHA:74
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Autoimmunity, Splenomegaly, Leukocytosis, Chronic diarrhea... ORPHA:39041
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... OMIM:615518
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Bilate... OMIM:242900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Antineutrophil antibody posi... OMIM:301078
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Impaired T cell funct... OMIM:613179
Lysinuric Protein Intolerance
Osteopenia, Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial... ORPHA:470
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Pneumonia, Decreased circulating complement factor B concentration... ORPHA:2298
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... ORPHA:83471
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... ORPHA:36234
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Decrea... OMIM:617718
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... OMIM:241600
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... ORPHA:329918
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Lymphadenopathy, Hepatosplen... OMIM:607115
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul... OMIM:228000
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Antinuclear antibody positivity, Malar rash, Systemic lupus erythema... OMIM:301080
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac... OMIM:617575
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Resp... ORPHA:26790
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, R... ORPHA:275
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, T lymphocytopen... OMIM:242860
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... ORPHA:507
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Port... OMIM:619487
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... OMIM:619374
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... OMIM:618963
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Abdom... ORPHA:36412
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retrop... ORPHA:79078
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis, Recurrent bronchitis OMIM:216950
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Gastrointestin... ORPHA:90051
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Splenomegaly, Ch... OMIM:614576
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,... ORPHA:33355
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr... OMIM:613011
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Glo... ORPHA:91138
Immunodeficiency 19
Recurrent respiratory infections, Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology... OMIM:615617
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Abdominal pain, Splenomegaly, Antinu... OMIM:618852
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Postinfectious Vasculitis
Rheumatoid factor positive, Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal inf... ORPHA:48435
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... OMIM:615387
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Respiratory insufficiency, Hematu... ORPHA:375
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Dyspnea, Leuk... ORPHA:67
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding diffi... ORPHA:3260
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Abdominal pain,... ORPHA:829
Burkitt Lymphoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anorexia, Anti-thyroid peroxidase antibody positiv... ORPHA:49041
Adenocarcinoma Of The Esophagus
Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ly... ORPHA:99976
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Flexion contracture, Lymphadenopathy,... OMIM:617591
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
5-Oxoprolinase Deficiency
Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Increased level of L-py... OMIM:260005
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Dependency on intravenous nutrition, Gastritis, Increased mean pla... ORPHA:84064
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Q Fever
Respiratory distress, Rheumatoid factor positive, Anorexia, Abnormality of the liver, Cholecystit... ORPHA:781
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo... OMIM:607426
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Diarrhea, Recurrent upper respiratory tract infections, Prot... OMIM:615758
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Aspergillosis
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Abnormality of the kidney, Chronic pulmon... ORPHA:1163
Gaucher Disease Type 1
Osteopenia, Anorexia, Osteoarthritis, Leukopenia, Biliary tract obstruction, Hepatomegaly, Increa... ORPHA:77259
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly ORPHA:139406
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea... OMIM:615895
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Uve... ORPHA:575
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Increased stool alpha1-antitrypsin concentr... ORPHA:90362
Babesiosis
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly,... ORPHA:108
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Nodular regene... ORPHA:247691
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Complement Component 4A Deficiency
Systemic lupus erythematosus, Glomerulonephritis, Reduced hemolytic complement activity, Decrease... OMIM:614380
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Hepatomegaly OMIM:619175
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... ORPHA:85408
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased inflammatory response,... ORPHA:158061
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Autoimmunity, Crackles, Nonproductive cough, Leukocyto... ORPHA:2902
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Hyperimidodipeptiduria, Splenomegaly, Asthma, Recurre... OMIM:170100
Graft Versus Host Disease
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Acute hepat... ORPHA:39812
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Splenomega... OMIM:276700
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... OMIM:266265
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy... OMIM:181000
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph... ORPHA:90291
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Abdominal pain OMIM:118830
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis OMIM:613860
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port... OMIM:615688
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Flexion contr... ORPHA:77260
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Limitation of joint mobili... ORPHA:69126
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia OMIM:615010
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Increased circulating antibody level, Hyperinsulinemic hypog... ORPHA:411593
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Feeding difficult... OMIM:301006
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t... ORPHA:227990
Immunodeficiency 31C
Osteopenia, Villous atrophy, Protein-losing enteropathy, Cough, Recurrent vulvovaginal candidiasi... OMIM:614162
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... OMIM:618213
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Joint laxity, Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Abnormal sacroiliac joint... ORPHA:324964
Neonatal Alloimmune Neutropenia
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod... ORPHA:464370
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Intestinal perforation, Secretory diar... ORPHA:544482
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Flexion contr... OMIM:256040
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Hemochromatosis, Type 3
Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level, Hypogonadism ORPHA:3409
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Portal hypertension, Intrahepatic portal vein sclerosis, Smoo... ORPHA:64743
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Lymphadenopathy, In... ORPHA:98848
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe... ORPHA:340
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Acute colitis, Abdominal pain, Intestinal perforation, Leukocytosis, Sch... ORPHA:90038
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe... ORPHA:227982
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Portal hypertension, ... OMIM:613385
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati... OMIM:232240
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... ORPHA:330021
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome... OMIM:612714
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decrease... OMIM:601495
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Secretory diarrhea, Hepat... OMIM:619573
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, P... OMIM:249100
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Malabsorption OMIM:152800
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Celiac disease, Abdominal dis... ORPHA:186
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... ORPHA:567548
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Abnormality of the thyroid gland, Increased circu... ORPHA:449432
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Neo... OMIM:256300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Renal insufficiency, Nausea and vomiting, Anorexia, Abdominal... ORPHA:79312
Overlap Myositis
Subluxation of the small joints of the hand, Abnormality of the kidney, Autoimmunity, Antinuclear... ORPHA:206572
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle... OMIM:607944
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Tubulointerstitial nephritis, Gastroesophageal reflux, Cough, Glomerulopathy... ORPHA:183
Primary Sclerosing Cholangitis
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neo... ORPHA:171
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... ORPHA:656
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ... ORPHA:379
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... ORPHA:381
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Abdominal pain, Abnormalit... ORPHA:54251
Sandhoff Disease
Splenomegaly, Recurrent respiratory infections, Hepatomegaly ORPHA:796
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density ORPHA:172
Diffuse Alveolar Hemorrhage
Rheumatoid factor positive, Cough, Decreased circulating complement C4 concentration, Irregular s... ORPHA:90060
Bloom Syndrome
Bronchitis, Poor appetite, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decrea... ORPHA:125
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antimitochondrial antibody positivity, Antinuc... ORPHA:562639
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea... OMIM:614376
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Immunodeficiency 20
Recurrent respiratory infections, Reduced natural killer cell activity, Wheezing, Recurrent viral... OMIM:615707
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Necrotizing enterocolitis, Abdominal pain, Elbow flexion contracture... OMIM:616809
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade... OMIM:609981
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis OMIM:120100
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... OMIM:254900
Hemochromatosis, Type 2A
Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly OMIM:602390
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, S... ORPHA:3226
Alpha-Mannosidosis
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Narrow palate, Arthritis, Macroglos... ORPHA:61
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome,... OMIM:269920
Legionnaires Disease
Anorexia, Abnormal lung morphology, Cough, Infectious encephalitis, Abdominal pain, Recurrent pha... ORPHA:549
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa... ORPHA:85450
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Autoimmunity, Malabsorption, Recurrent infection of the gastroi... OMIM:137100
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c... OMIM:613913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Flexion contracture, Hepatosplenomegaly, Respir... ORPHA:2590
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Gastroesophageal reflux, Recurrent aspiration pneumonia, Neonatal respiratory distres... ORPHA:221139
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular ... ORPHA:53
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatos... ORPHA:79259
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Decreased response to growth hormo... OMIM:615577
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria, Recurrent fractures, Hepatomegaly ORPHA:417
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Anorexia, Abdominal pain, Mala... ORPHA:3452
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Vomiting OMIM:230350
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Aminoaciduria ORPHA:79238
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st... OMIM:307200
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Abdominal pain, Recurrent pharyngitis, Le... ORPHA:32960
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Chronic o... ORPHA:169090
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Diabetes mellitus, Female hypogonadism, Acute lymph... OMIM:208900
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Alport Syndrome
Mesangial hypercellularity, Vomiting, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C... ORPHA:63
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Rosaï-Dorfman Disease
Osteolysis, Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Recurrent fractures, Goiter, Abnormal lymph node morpholog... ORPHA:97290
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Dilatation of the renal pelvis, Knee flexion contracture,... OMIM:619708
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Joint laxity, Hypospadias, Glomerulonephritis, Proteinuria, Hip dislocation, Nephrotic syndrome, ... OMIM:619428
Combined Saposin Deficiency
Splenomegaly, Feeding difficulties, Hepatomegaly OMIM:611721
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Reynolds Syndrome
Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Respiratory in... ORPHA:779
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Claw hand deformity OMIM:614455
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Constrictive pericarditis, Abdominal colic, Intestinal lymphedema,... ORPHA:90363
Catastrophic Antiphospholipid Syndrome
Antiphospholipid antibody positivity, Abnormality of the kidney, Anticardiolipin IgG antibody pos... ORPHA:464343
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, E... OMIM:614034
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma... ORPHA:75233
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Vomiting, Cough... ORPHA:454836
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc... OMIM:215250
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Feeding difficulties in infancy, Atopic de... OMIM:618624
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle... ORPHA:141152
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... OMIM:612387
Purine Nucleoside Phosphorylase Deficiency
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy... ORPHA:760
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Abdominal pain, Splenomega... ORPHA:85414
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Wilson Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Arthritis, Joint ... ORPHA:905
Familial Mediterranean Fever
Acute hepatic failure, Osteoarthritis, Nephrocalcinosis, Gastrointestinal infarctions, Nephropath... ORPHA:342
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... ORPHA:36238
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... ORPHA:2796
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic ... OMIM:214900
Sézary Syndrome
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno... ORPHA:3162
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Feedin... OMIM:257200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... OMIM:619767
Rhabdoid Tumor
Nausea and vomiting, Renal neoplasm, Poor appetite, Abdominal pain, Respiratory insufficiency, Ly... ORPHA:69077
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Autoimmunity, Spleno... ORPHA:56425
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Gout, Anemia ORPHA:510
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Autoimmunity, Epistaxis ORPHA:46488
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... OMIM:618347
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Joint dislocation, Abnormality of neutrophils, Delayed closure... ORPHA:1451
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Mac... ORPHA:251004
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Bronchiectasis, Feeding diffi... OMIM:620184
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... OMIM:614868
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Anti-glomerular basement membrane-... OMIM:233450
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Craniosynostosis, Cardiomegaly ORPHA:88643
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Esophageal stricture, Chronic di... OMIM:617053
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Papil... ORPHA:319487
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Bronchiectasis, Metopic synostosis ORPHA:477814
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Roifman Syndrome
Hip contracture, Eosinophilia, Eczema, Delayed proximal femoral epiphyseal ossification, Recurren... ORPHA:353298
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... OMIM:615846
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Abnormality of the spleen, Lymphadenitis,... ORPHA:2552
Alpha-Mannosidosis, Adult Form
Osteopenia, Pancytopenia, Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Macroglossia, Recurr... ORPHA:309288
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Hypospadias, Gastritis, Folate-unresponsive megaloblastic anemi... ORPHA:2575
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibod... OMIM:619750
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Recurrent pneumonia, High palate, Hepatomegaly OMIM:615637
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Recurrent lower respiratory ... OMIM:615966
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Splenomegaly, Aplasia/Hypoplasia of the lungs, Abno... ORPHA:2204
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis ORPHA:3165
Idiopathic Achalasia
Bronchitis, Wheezing, Malnutrition, Dysphagia, Gastroesophageal reflux, Cough, Recurrent aspirati... ORPHA:930
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Osteolysis, Respiratory insuffici... ORPHA:391
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Recurrent pneumonia, Restrictive ventilatory defect OMIM:602271
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Bullous Impetigo
Recurrent bacterial skin infections, Glomerulopathy, Pustule, Abnormality of the lymphatic system... ORPHA:36237
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Accessory spl... OMIM:620005
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh... ORPHA:2930
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypoplasi... OMIM:603467
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Wheezing, M... ORPHA:79456
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Abdominal pain, Abnormal gastric mucosa morphology, Jaundic... ORPHA:234
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc... ORPHA:824
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia ORPHA:721
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Villous atrophy, Micr... ORPHA:398063
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Feeding ... OMIM:610333
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Osteopenia, Flexion contracture, Gastrointestinal inflammation, Iron deficien... ORPHA:79408
Severe Hemophilia A
Gastrointestinal hemorrhage, Limb joint contracture, Epistaxis, Limitation of joint mobility, Syn... ORPHA:169802
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Penile freckling, Splenomegaly, Decreased circulating antibody level,... OMIM:605309
Roifman Syndrome
Hepatomegaly, Hip contracture, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphaden... OMIM:616651
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:86893
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased respo... ORPHA:811
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... ORPHA:232
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Hepatic st... OMIM:278000
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,... OMIM:275350
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Co... OMIM:614602
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growth hormone stimulati... ORPHA:293978
X-Linked Sideroblastic Anemia
Dyspnea, Splenomegaly, Anemia ORPHA:75563
Takayasu Arteritis
Increased inflammatory response, Anorexia, Arthritis, Gastrointestinal infarctions, Pulmonary art... ORPHA:3287
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Vomiting, Gastroesophageal reflux, Cough, Hilar lymph node enlargement, Hepatomegaly, M... OMIM:620233
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapular exanthema, Skin rash... ORPHA:398124
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Increased circulating interleukin... ORPHA:160
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff... ORPHA:848
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... ORPHA:179494
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... ORPHA:564003
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Protruding tongue, Malabsorption, D... ORPHA:2268
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa... ORPHA:1414
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenis... ORPHA:228426
Melas
Hypoparathyroidism, Proteinuria, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Dia... ORPHA:550
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Splenomegaly, Pyloric stenosis, Recurrent pneumonia, Ileus, Flexion con... OMIM:613327
Sitosterolemia 1
Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stom... OMIM:210250
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... OMIM:142680
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Abdominal pain, Splenomegaly, Di... ORPHA:99745
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc... ORPHA:1855
Farber Disease
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona... ORPHA:333
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Esophageal varix, Cirrhosis,... ORPHA:75234
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Knee osteoarthrit... ORPHA:2619
Alg12-Cdg
Gastroesophageal reflux, Abnormal bone ossification, Micropenis, Hypospadias, Partial absence of ... ORPHA:79324
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Proteinuria, Abnormal renal medulla morphology, Renal ... ORPHA:439232
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Flexion contract... ORPHA:231
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
Plague
Respiratory distress, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pne... ORPHA:707
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ... ORPHA:31205
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod... ORPHA:79126
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Oligu... ORPHA:514
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Ataxia-Telangiectasia
Recurrent respiratory infections, Abnormal testis morphology, Decreased circulating antibody leve... ORPHA:100
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow... OMIM:614204
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Vomiting, Hepatic steatosis OMIM:614480
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Joint hypermobility, Splenomegaly, Chronic dia... OMIM:300972
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Microlissencephaly
Pneumonia ORPHA:1083
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Test... ORPHA:83469
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ... OMIM:608233
Alveolar Echinococcosis
Liver abscess, Cholangitis, Renal cyst, Vomiting, Cough, Portal hypertension, Abdominal pain, Abn... ORPHA:284
Sialidosis Type 2
Hepatomegaly, Dyspnea, Splenomegaly, Flexion contracture, Osteoporosis, Nephropathy, Ascites ORPHA:87876
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... ORPHA:545
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobility, Rhinitis ORPHA:93476
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Apnea, Bronchiectasis, Respiratory insufficiency, Dysphagia, Feeding difficulties, A... OMIM:618253
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Renal insufficiency, Gastrointestinal hemorrha... ORPHA:33226
Caffey Disease
Increased circulating antibody level ORPHA:1310
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure, Pyloric stenosis ORPHA:664
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Moderate... OMIM:619525
Generalized Pustular Psoriasis
Renal insufficiency, Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosi... ORPHA:247353
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Joint contracture, Flexion contracture, Hepatomegaly OMIM:608540
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly OMIM:617068
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Abdominal pain, Splenomegaly, ... OMIM:603903
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Congenital Disorder Of Glycosylation, Type Iij
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficult... OMIM:613489
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Osteopetrosis, ... OMIM:612301
Listeriosis
Respiratory distress, Liver abscess, Stiff neck, Abnormal cellular immune system morphology, Gran... ORPHA:533
Kindler Epidermolysis Bullosa
Urethral stricture, Recurrent skin infections, Camptodactyly of finger, Phimosis, Esophageal stri... ORPHA:2908
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leu... OMIM:610377
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi... OMIM:232200
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Cardiomegaly, Decrea... ORPHA:79330
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Bronchitis, Abdominal pain, Neonatal asphyxia, Diarrhea, ... ORPHA:420741
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ... OMIM:232800
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha... ORPHA:79477
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... OMIM:251260
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Anti-acetylcholine receptor antibody ... ORPHA:589
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Osteop... OMIM:212750
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal... OMIM:211600
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Blau Syndrome
Xerostomia, Abnormality of the liver, Posterior uveitis, Nephropathy, Abnormal salivary gland mor... ORPHA:90340
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, B lymphocytopenia OMIM:619851
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Reduced bone mineral d... ORPHA:834
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, High pa... ORPHA:85212
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... OMIM:619693
Al Amyloidosis
Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary... ORPHA:85443
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... ORPHA:131
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Productive cough, Abdominal pain,... ORPHA:520
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Skin rash, ... OMIM:612852
Lassa Fever
Increased circulating IgM level ORPHA:99824
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Scrub Typhus
Nausea and vomiting, Anterior uveitis, Renal insufficiency, Skin rash, Abdominal pain, Splenomega... ORPHA:83317
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Dysphagia, Feeding difficulties, Anemia, Stridor, Gastroesopha... OMIM:230900
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect... ORPHA:1303
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Rigid Spine Syndrome
Hip contracture, Pneumonia, Abnormality on pulmonary function testing, Elbow flexion contracture,... ORPHA:97244
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Subcorneal Pustular Dermatosis
Hypothyroidism, Hyperthyroidism, Increased circulating antibody level ORPHA:48377
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Gastroesophageal... ORPHA:2414
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... OMIM:137940
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chroni... ORPHA:90033
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Abnormality of the pulmonary artery, Thr... ORPHA:290
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Iron deficie... ORPHA:309031
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop... ORPHA:508542
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Reduced circulating growth hormone concentration OMIM:615508
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced my... OMIM:201475
Gaisböck Syndrome
Peptic ulcer, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Gout, N... ORPHA:90041
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Cardiomegaly, Abdominal pain,... ORPHA:465508
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Neuropathic arthropathy, Feeding difficulties in infancy, Recurrent infections due to aspiration,... OMIM:223900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Microscopic hematuria, Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract i... ORPHA:567546
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Congenital Factor Xiii Deficiency
Epistaxis, Inflammation of the large intestine, Myeloid leukemia, Hepatic failure, Joint hemorrhage ORPHA:331
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... ORPHA:79128
Chronic Myeloid Leukemia
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... ORPHA:521
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Renal insufficiency, Sinusitis, Pericarditis, Epis... ORPHA:727
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,... OMIM:611490
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Impaired T cell function, Splenomegal... ORPHA:30
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture, Lymphaden... OMIM:619183
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... OMIM:619155
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Nasogastric tube feeding in infancy,... ORPHA:90117
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Abdominal distention, Hypochromic microcytic anemia, Arthritis, Sept... OMIM:619423
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Lymp... ORPHA:50918
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut... ORPHA:281090
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Osteoporosis, H... ORPHA:231226
Kawasaki Disease
Nausea and vomiting, Pericarditis, Proteinuria, Skin rash, Abdominal pain, Recurrent pharyngitis,... ORPHA:2331
Wilson Disease
Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroi... OMIM:277900
H Syndrome
Psoriasiform dermatitis, Abnormality of the kidney, Recurrent fractures, Microcytic anemia, Malab... ORPHA:168569
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, R... OMIM:607765
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... ORPHA:85435
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Decreased urinary potassium, Iron deficiency anemia, ... ORPHA:358
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Abnormality of the pancre... ORPHA:935
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Proteinuria, Glomerulonephritis, Diffuse alveolar hemorrha... ORPHA:90068
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of the lymphatic... ORPHA:464329
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinur... OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abdominal ... ORPHA:2357
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... OMIM:230800
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal renal tubule morphology, Autoim... ORPHA:732
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Hiatus hernia, Stage 5 chronic kidney disease, Focal segmental glome... OMIM:619603
Wolfram Syndrome
Central apnea, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Malabsor... ORPHA:3463
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurrent... OMIM:252920
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe... ORPHA:90045
Hennekam Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Mala... ORPHA:2136
Adams-Oliver Syndrome 6
Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Hepatic fibrosis OMIM:616589
Dent Disease
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... ORPHA:1652
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... OMIM:616307
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog... ORPHA:449427
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Pericarditis, Villous atrophy, Proteinuria, Feeding difficulties in inf... OMIM:212065
Behçet Disease
Myositis, Anorexia, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acne, Abdominal ... ORPHA:117
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Increased circulating interleukin 8 concentration, Recurrent pneumonia, Chron... OMIM:301220
Poikiloderma With Neutropenia
Joint laxity, Skin rash, Joint stiffness, Splenomegaly, Recurrent bronchopulmonary infections, Re... OMIM:604173
Xq28 (MECP2) duplication
Recurrent respiratory infections, Feeding difficulties in infancy, Functional abnormality of the ... DECIPHER:45
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo... ORPHA:101096
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Mucopolysaccharidosis, Type Ix
Hyperextensibility at elbow, Acetabular erosions, Submucous cleft hard palate, Periarticular soft... OMIM:601492
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Hip dislocation, Stage 5 chronic kidney ... OMIM:617729
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine ... ORPHA:158048
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis,... ORPHA:449563
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Jaundi... OMIM:603553
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arthropathy, Intestinal pseudo-obstruction, Macroglossia, Arthritis,... ORPHA:85446
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Decreased circulating IgG ... ORPHA:505248
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo... OMIM:214500
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Neutro... OMIM:617827
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal lung lobation, Gastroesophageal reflux, Microgastria, Hepatom... ORPHA:2538
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... ORPHA:231214
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Leukocytosis, Increased circulating IgG level, Limited elbow fl... ORPHA:206594
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Increased bone mineral... ORPHA:77261
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia OMIM:613217
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abdominal distention, Flexion contracture, Congenita... ORPHA:158684
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Horseshoe kidney, Cleft palate, Increased mean corpu... OMIM:612562
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... ORPHA:293173
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Malabsorption, Cryptorchidism, Leukocytosis, Lym... ORPHA:99812
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema... OMIM:609939
Marburg Hemorrhagic Fever
Anorexia, Nonproductive cough, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnor... ORPHA:99826
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Antinuclear ... OMIM:613471
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea, Abnormal urinary color ORPHA:90037
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurr... OMIM:252930
Pediatric-Onset Graves Disease
Episcleritis, Hepatomegaly, Nausea and vomiting, Autoimmunity, Craniosynostosis, Keratitis, Splen... ORPHA:525731
Gaucher Disease
Osteopenia, Joint dislocation, Feeding difficulties in infancy, Osteoarthritis, Hepatomegaly, Inc... ORPHA:355
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Autoimmunity, Abdominal pain, Splenomegaly, Panniculitis, Infl... ORPHA:33577
Ogden Syndrome
Congenital hip dislocation, Apnea, Cardiomegaly, Microvesicular hepatic steatosis, Iron deficienc... OMIM:300855
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Delayed ossification of carpal bones, Erythro... OMIM:617425
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Cirrhosis,... OMIM:601847
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Renal insufficiency, Autoimmunity, Malabsorption, Dyspnea, Flexion contractu... ORPHA:220393
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurr... OMIM:252900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Severe B lymphocytopenia, Biliary hyperplasia, Micropenis, Pancreatic hypop... ORPHA:83617
Joubert Syndrome 33
Splenomegaly, Apnea OMIM:617767
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Fetal ascites, Splenomegaly,... OMIM:607625
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Anal... OMIM:250250
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Recurrent fractures, Feeding difficulties in infancy, ... OMIM:239200
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Pulmon... ORPHA:70591
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Sple... OMIM:259700
Lysinuric Protein Intolerance
Leukopenia, Aminoaciduria, Vomiting, Nausea, Hepatomegaly, Osteoporosis, Respiratory insufficienc... OMIM:222700
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi... ORPHA:347
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis... OMIM:158310
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Cryptorchidism, Anemia, Pulmonary fibrosis, Emphysema, Lymphopen... OMIM:620365
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary norepinephrine level, Elevated urina... ORPHA:276621
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Hemochromatosis, Type 1
Arthropathy, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Osteoporosis, Cirrhosis, H... OMIM:235200
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Feeding difficulties in infancy, ... OMIM:225750
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Increased skull ossification, Pneumonia ORPHA:85179
Fumarase Deficiency
Necrotizing enterocolitis, Increased urine succinate level, Bilateral fetal pyelectasis, Intrahep... OMIM:606812
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormo... ORPHA:97287
Dermatitis Herpetiformis
Autoimmunity, Recurrent fractures, Malabsorption, Eczema, Microcytic anemia ORPHA:1656
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Intestinal pseudo-obstruction, Heparan sulfate excretion in urine, Splenomegaly, As... OMIM:309900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Osteoporosis, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea,... OMIM:619971
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Feeding difficulties, Decreased circulating antibody level, Recurrent ... OMIM:617744
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrop... OMIM:610910
Mucopolysaccharidosis Type 6
Sinusitis, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract infections, Genu valg... ORPHA:583
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infe... OMIM:267700
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Patellar aplasia, Antecubital pterygium, Cl... OMIM:161200
Glycogen Storage Disease Ixb
Splenomegaly, Diarrhea, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Hermansky-Pudlak Syndrome 1
Renal insufficiency, Epistaxis, Abdominal pain, Hematochezia, Restrictive ventilatory defect, Inf... OMIM:203300
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abdo... ORPHA:793
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra... ORPHA:411696
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia... ORPHA:319213
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Chops Syndrome
Gastroparesis, Tracheomalacia, Splenomegaly, Cryptorchidism, High, narrow palate, Anomalous pulmo... OMIM:616368
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Esophageal varix, Hepato... ORPHA:264580
Coach Syndrome 1
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Abnormal abdomen morp... OMIM:216360
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,... ORPHA:2905
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Nail-Patella Syndrome
Flexion contracture, Patellar hypoplasia, Reduced bone mineral density, Knee flexion contracture,... ORPHA:2614
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... OMIM:136680
Immunodeficiency 77
Gastroparesis, Recurrent tonsillitis, Chronic pulmonary obstruction, Bronchiectasis, Cutaneous ab... OMIM:619223
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Gastroesophageal reflux, Oral leukoplakia, Dysphagia, Decreased ... OMIM:620040
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia ORPHA:319251
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Asthma, Hepatosplenomegaly, Ane... OMIM:606003
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Respiratory distress, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypo... ORPHA:79404
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Sag... OMIM:610199
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... ORPHA:411703
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Gastric ulcer, Anemia OMIM:208060
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Diarrhea, Hepatitis, Steatorrhea,... OMIM:613812
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae, Pulmonary hypoplasia, Intestinal malrotation ORPHA:3035
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Joint laxity, Cholestasis, Hepatosplenomegaly, Feeding difficulties... ORPHA:541423
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Feeding difficultie... OMIM:251300
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... OMIM:219700
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla... OMIM:301068
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neoplasm of the lung, Neoplasm o... ORPHA:424019
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Genu valgum, Hepatic fibrosis, N... OMIM:615630
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... OMIM:240300
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hepatomegaly, Proteinuria, Elevated hemoglobin A1c, Joint stiffness, Flexion contract... OMIM:619127
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Splenomegaly, Macrocytic anemia OMIM:619046
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea, Hepatic fa... OMIM:235555
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Biliary tract neoplasm, Dyspnea, Bro... ORPHA:662
Scheie Syndrome
Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Rhinitis, Mucopolysacc... ORPHA:93474
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Bloom Syndrome
Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiect... OMIM:210900
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... OMIM:607850
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Epistaxis, Abnormal pleura morphology, Anorexia, Abdominal pai... ORPHA:397
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Esophage... ORPHA:2072
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... OMIM:617050
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal diste... OMIM:619445
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Osteoarthritis, Delaye... ORPHA:750
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary norepinephrine level, Elevated urina... ORPHA:29072
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, Periodontitis, Hepatomegaly, Osteoporosis, Abnorma... ORPHA:1775
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abd... ORPHA:99921
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Uveitis, Nephrocalcinosis, Leukopenia, Tubuloin... ORPHA:797
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Feeding difficulties OMIM:616239
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly... OMIM:257220
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Splenomegaly, Osteopetrosis, Hepatomegaly OMIM:618541
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Dysphagia, Has... ORPHA:97285
Degcags Syndrome
Osteopenia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency an... OMIM:619488
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Autoimmunity, Abdom... ORPHA:436252
Smith-Kingsmore Syndrome
Cryptorchidism, Feeding difficulties, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Immunodeficiency 9
Hypoplasia of the thymus OMIM:612782
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Delayed epiphyseal ossification,... ORPHA:93308
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vomiting, Gastroesophageal reflux, Aspiration pneumonia, Cough, Nephropathy, Achalasia, Tracheobr... ORPHA:1018
Cornelia De Lange Syndrome 1
Ectopic kidney, High, narrow palate, Renal cyst, High palate, Gastroesophageal reflux, Otitis med... OMIM:122470
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Splenomegaly, Abnormality of complement system, Polycystic ovaries,... ORPHA:2348
Japanese Encephalitis
Inappropriate antidiuretic hormone secretion, Increased circulating IgM level, Neutrophilia, Incr... ORPHA:79139
Cowden Syndrome 1
Colonic diverticula, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian... OMIM:158350
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... OMIM:235255
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Splenomegaly, Cryptorchidism, Elbow flexion contracture, Hypercalci... OMIM:618440
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... ORPHA:178320
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Fabry Disease
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, ... ORPHA:324
Crimean-Congo Hemorrhagic Fever
Stiff neck, Anorexia, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis,... ORPHA:99827
Progressive Osseous Heteroplasia
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Abnormality ... ORPHA:2762
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Asthma, Diarrhea, ... OMIM:617321
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Left ventricular hypertrophy, ... OMIM:242840
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Vomiting, Lympho... OMIM:619991
22Q11.2 Deletion Syndrome
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Abnormal lung lobat... ORPHA:567
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Tracheoesophageal fistula, Lymphadenopat... ORPHA:142
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho... OMIM:611881
Sydenham Chorea
Septic arthritis, Endocarditis, Recurrent streptococcus pneumoniae infections ORPHA:306731
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Flexion contracture of finger, Decreased response to growth hormone s... OMIM:602782
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Pulmonary arterial hyperte... OMIM:616028
Hurler-Scheie Syndrome
Recurrent respiratory infections, Hepatomegaly, Camptodactyly of finger, Joint stiffness, Heparan... OMIM:607015
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Autosomal Dominant Spastic Paraplegia Type 36
Urinary urgency, Arthritis, Urinary incontinence ORPHA:320365
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hepa... ORPHA:167
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal pleura morphology, Abdo... ORPHA:29207
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Diarrhea, Osteoporosis, Hepatocellular adenoma, Polycystic ovaries, R... ORPHA:79240
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym... ORPHA:1655
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis... ORPHA:31204
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Trichinellosis
Increased circulating IgE level ORPHA:863
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Dysphagia OMIM:230600
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Gm1 Gangliosidosis
Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness, Splenomegaly, Hepatos... ORPHA:354
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, High palate, Decreased liver function,... OMIM:251290
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Biotinidase Deficiency
Hepatomegaly, Apnea, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficu... OMIM:253260
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Hypospadias, Cryptorchidism, Asthma, Protuberant abdomen, Intestinal polyp, ... ORPHA:457485
Malt Lymphoma
Nausea and vomiting, Recurrent respiratory infections, Abdominal pain, Mediastinal lymphadenopath... ORPHA:52417
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenom... OMIM:259720
Myotonic Dystrophy 2
Decreased circulating total IgM, Hypogonadism, Type II diabetes mellitus, Elevated circulating fo... OMIM:602668
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyn... OMIM:223370
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... ORPHA:95455
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Hennekam-Beemer Syndrome
Pneumonia, Camptodactyly of finger, Abdominal pain, Respiratory insufficiency, High palate, Vomit... ORPHA:2135
Mucopolysaccharidosis Type 1
Joint dislocation, Recurrent respiratory infections, Sinusitis, Apnea, Abnormality of the tonsils... ORPHA:579
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... OMIM:105835
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... ORPHA:93111
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Cholangitis,... OMIM:615207
Combined Oxidative Phosphorylation Deficiency 51
Nasogastric tube feeding, Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Congenital hip dislocation, Splenomegaly, Renal hypoplasia, Feeding difficulties, Nep... OMIM:617913
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Autoimmunity, Fee... ORPHA:221
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration,... OMIM:201100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Joint hypermobility, Splenomegaly, Micr... OMIM:619418
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... ORPHA:70578
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Osteolysis, Increa... OMIM:263700
Epiphyseal Dysplasia, Multiple, 3
Osteoarthritis, Delayed epiphyseal ossification, Limited elbow extension, Limited knee extension,... OMIM:600969
Alagille Syndrome 1
Duplicated collecting system, Hepatocellular carcinoma, Multiple small medullary renal cysts, Ren... OMIM:118450
Sialuria
Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipples, Protuberant abdomen, ... OMIM:269921
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Nausea, Gastrointestinal obstruction, Extr... ORPHA:100078
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Po... ORPHA:729
Congenital Erythropoietic Porphyria
Osteopenia, Anisocytosis, Increased stool urobilinogen concentration, Red-brown urine, Increased ... ORPHA:79277
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Joint stiffness, Splenomegaly, Hepa... ORPHA:584
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatic failure, Hepatospl... OMIM:608013
Williams Syndrome
Osteopenia, Hypoplasia of penis, Cardiomegaly, Rectal prolapse, Abnormal tubulointerstitial morph... ORPHA:904
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract infecti... OMIM:253200
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Feeding difficulties in infancy, Oligosacchariduria, Nephrocalcinosis, Amino... ORPHA:534
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Osteoarthritis, Recurrent fractures OMIM:616833
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Nephroblastoma
Abdominal pain, Lymphadenopathy, Hematuria, Neoplasm of the liver, Neoplasm of the lung, Nephrobl... ORPHA:654
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Flexion contracture, Reduced bone mineral density, Otitis media, Aspir... ORPHA:581
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Pancytopenia, Recurrent urinary tract infections, Pneumonia, Craniosyno... ORPHA:309282
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... ORPHA:166002
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Diabetes mellitus ORPHA:90003
Osteoarthritis With Mild Chondrodysplasia
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness OMIM:604864
Rheumatic Fever
Nausea and vomiting, Pericarditis, Sinusitis, Epistaxis, Abnormal pleura morphology, Anorexia, Ab... ORPHA:3099
Gm1-Gangliosidosis, Type I
Hepatomegaly, Joint stiffness, Splenomegaly, Vacuolated lymphocytes, Abnormality of the urinary s... OMIM:230500
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Neonatal respiratory distress, Stage 5 chronic kidney disease, Nephr... OMIM:194080
Chikungunya
Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Erythema nodosum, Cervical lympha... ORPHA:324625
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypoplasia of the thymus OMIM:214110
Opsismodysplasia
Recurrent respiratory infections, Abnormally ossified vertebrae, Hepatomegaly, Joint stiffness, S... ORPHA:2746
Complement Factor B Deficiency
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration OMIM:615561
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Hypospadias, Cryptorchidism, Recurrent upper respiratory tract infections, ... OMIM:607143
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Thyrotoxicosis with diffus... ORPHA:64744
Relapsing Polychondritis
Uveitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Atelectasis, ... ORPHA:728
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Feeding difficulties in infancy, Splenomegaly, Micronodular ci... OMIM:251880
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Apnea, Portal hypertension, Feed... ORPHA:1454
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte... OMIM:230000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis... OMIM:301072
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Hypospadias, Increased mean platelet volume, Splenomegaly, Abnorma... OMIM:222470
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thromboc... ORPHA:77293
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Anoperinea... OMIM:613960
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Feeding difficulties, Macroglossia, Urinary glycosaminoglycan excretion, Aspi... ORPHA:79255
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Osteoarthritis, Cleft palate ORPHA:166100
Prolidase Deficiency
Recurrent respiratory infections, Recurrent cystitis, Hepatomegaly, Splenomegaly, Crusting erythe... ORPHA:742
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper ... OMIM:253220
Epiphyseal Dysplasia, Multiple, 1
Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Limited hip movement,... OMIM:132400
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Rasmussen Subacute Encephalitis
Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Joint stiffness, Heparan sulfate excretion in uri... OMIM:607014
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Neonatal alloimmune thrombocytop... ORPHA:51
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Abdominal distention, Delayed epiphyseal ossification, Premature osteoarthritis, Up... ORPHA:93352
Lesch-Nyhan Syndrome
Megaloblastic anemia, Hip dislocation, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Vomiti... OMIM:300322
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... OMIM:188400
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Delayed closure of the anterior fontanelle, Renal hypoplasia, Renal cyst, D... OMIM:618460
Hereditary Xanthinuria
Crystalluria, Arthropathy, Recurrent urinary tract infections, Xanthine nephrolithiasis, Poor app... ORPHA:3467
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint laxity, Recurrent respiratory infections, Pneumonia, Cryptorchidism, Flexion contracture, A... ORPHA:98905
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Iron deficiency anemia, Gastric ulcer, Esophageal ulceration, Impaired platelet a... OMIM:618372
Simpson-Golabi-Behmel Syndrome
Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circulating IgE level, Pancreatic i... ORPHA:373
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Red-brown urine,... ORPHA:95159
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Osteopenia, Joint hypermobility, Craniosynostosis, High, narrow palate, Nasog... ORPHA:369837
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum ORPHA:85198
Desmosterolosis
Increased bone mineral density, Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia,... ORPHA:35107
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis, Cleft palate OMIM:184840
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Joint hypermobility, Hyperextensibili... OMIM:130000
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Macrogl... OMIM:248500
Glycogen Storage Disease Ii
Hepatomegaly, Recurrent respiratory infections, Urinary incontinence, Cardiomegaly, Respiratory i... OMIM:232300
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Skin rash, Hepatomegaly ORPHA:53715
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... ORPHA:30391
Localized Scleroderma
Fasciitis, Abnormality of the kidney, Autoimmunity, Abnormality on pulmonary function testing, Fl... ORPHA:90289
Alström Syndrome
Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test... ORPHA:64
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Hypoventilation, Recurrent fractures, Feeding difficulties in infancy, Decreased ci... OMIM:606056
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Abnormal acetabulum morphology, Splenomegaly, Jaundice, Chol... OMIM:618641
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Dyspnea, Splenomegaly, Vacuolated lymphocytes... ORPHA:565612
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Anorexia, Sterile pyuria, Renal interstitial edema, Increased circulating IgG ... ORPHA:91500
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip contracture, Protrusio acetabuli, Limited hip movement, Hip osteoart... ORPHA:99642
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans OMIM:165800
Aspartylglucosaminuria
Recurrent respiratory infections, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism, Malabsorp... ORPHA:93
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Peripheral Dysostosis
Osteoarthritis, Joint stiffness ORPHA:1795
Frontometaphyseal Dysplasia 2
Hip contracture, Neurogenic bladder, Congenital hip dislocation, Elbow contracture, Feeding diffi... OMIM:617137
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Cryptorchidism, Spherocytosis, Feeding diffi... ORPHA:251066
Roifman-Chitayat Syndrome
Osteopenia, Arthritis, Pneumonia, Ectopic kidney OMIM:613328
Proteus-Like Syndrome
Thymus hyperplasia, Genu recurvatum, Splenomegaly, Abnormality of the parathyroid gland, Polycyst... ORPHA:2969
Hurler Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormality of the tonsils, Camptodactyly of fing... ORPHA:93473
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Pulmonary embolism, Leukocytosis, Vomiting, Aspiration pneumon... ORPHA:94093
Yellow Fever
Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Anuria, Rena... ORPHA:99829
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal r... ORPHA:95430
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Antinuclear antibody positivity, Mediastinal lympha... ORPHA:199241
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Abdominal pain, Biliary hyperplasia, Splenome... ORPHA:567983
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi... OMIM:162000
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Moderate Hemophilia A
Arthropathy, Gastrointestinal hemorrhage, Hip contracture, Limitation of joint mobility, Synoviti... ORPHA:169805
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Osteoarthritis, Delayed epiphyseal ossification, Inspiratory st... OMIM:618618
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Delayed ossification of carpal bones, Delayed tarsal ossification, Genu... OMIM:607078
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Recurrent fractures, Craniosynostosis, Spl... ORPHA:667
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Chronic kidney disease, Feeding diffi... ORPHA:642
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Protruding tongue, Splenomegaly, Jaundice, Neonatal asphyxia, R... OMIM:608779
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Flexion contracture, Abnormal medullary pyramid morphology, Feedin... ORPHA:79243
Tay-Sachs Disease
Hepatosplenomegaly, Ankle clonus, Aspiration pneumonia, Dysphagia, Limited knee extension, Limite... ORPHA:845
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Limitation of joint mobility, Heparan sulfate excretion in urine, Spleno... ORPHA:217085
Melorheostosis
Arthritis, Increased bone mineral density, Ectopic ossification in muscle tissue, Joint stiffness ORPHA:2485
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Recurr... OMIM:252940
Joubert Syndrome 21
Apnea, Dyspnea, Splenomegaly, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Dysphagia, H... OMIM:615636
Stickler Syndrome Type 1
Joint hyperflexibility, Osteoarthritis, Cleft palate ORPHA:90653
Hypochondroplasia
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum ORPHA:429
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased... OMIM:618061
Adiposis Dolorosa
Recurrent skin infections, Autoimmunity, Diarrhea, Xerostomia, Arthritis, Constipation ORPHA:36397
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Limitation of joint mobility, Heparan sulfate excretion in urine, Spleno... ORPHA:217093
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Limitation of joint mobility, Ge... ORPHA:166011
Viss Syndrome
Chronic gastritis, High, narrow palate, Generalized joint laxity, Increased circulating IgG level... OMIM:619472
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Pulmonary arterial hypertensi... ORPHA:71493
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Reduced bone mine... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Reduced bone mine... ORPHA:99228
Monosomy X
Osteopenia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Reduced bone mine... ORPHA:99226
Turner Syndrome
Osteopenia, Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Reduced bone mine... ORPHA:881
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility ORPHA:63442
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Tube feeding ORPHA:79264
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Joint stiffness, Pulmonary embolism ORPHA:1345
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Acanthocytosis OMIM:300842
Orofaciodigital Syndrome Viii
High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:300484
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Recurrent respiratory infections, Renal insufficiency, Gout, Hyperuricosuria, Arthr... ORPHA:411543
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatitis OMIM:238600
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Atelectasis, Renal hypop... OMIM:269860
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Stiff neck, Pneumonia, Nausea, Respiratory tract infection, Pustule, Intrarenal absces... ORPHA:68
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Defective production of NFKB1-depen... OMIM:612132
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Abnormal lung morpho... ORPHA:646
Mowat-Wilson Syndrome
Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Flexion contract... ORPHA:2152
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Abnormal carpal morphology, Osteoporosis, Abnormal ... ORPHA:93351
Multiple Sulfatase Deficiency
Splenomegaly, Mucopolysacchariduria, Joint stiffness, Hepatomegaly ORPHA:585
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Osteoarthritis, Bronchiectasis, Joint hypermobility OMIM:620080
Familial Cold Urticaria
Nausea and vomiting, Arthritis, Conjunctivitis, Abdominal pain ORPHA:47045
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Nausea and vomiting, Proteinuria, Skin rash, A... ORPHA:761
Short Stature, Microcephaly, And Endocrine Dysfunction
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Renal hypoplasia, Micropenis, Lymphope... OMIM:616541
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Prominent m... ORPHA:576
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Episodic tachypnea, Pne... ORPHA:26793
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... ORPHA:99772
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Neuropathy, Hereditary Sensory And Autonomic, Type V
Arthropathy, Osteomyelitis, Urinary incontinence, Recurrent fractures, Osteoarthritis, Diarrhea, ... OMIM:608654
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Autoimmunity, Abdominal pain, Dys... ORPHA:93672
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Renal neop... ORPHA:538
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var... ORPHA:309854
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis ORPHA:79351
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Renal tubular acidosis, Organic aciduria, Pancreatitis, Aspiration pneumonia ORPHA:431361
Esophageal Atresia
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... ORPHA:1199
Dowling-Degos Disease
Arthritis, Anal margin squamous cell carcinoma, Acne inversa, Penile freckling ORPHA:79145
Stickler Syndrome, Type I
Arthropathy, Joint stiffness, Osteoarthritis, Submucous cleft hard palate, Cleft palate, Arthriti... OMIM:108300
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum ORPHA:1822
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Gastroparesis, Recur... ORPHA:70
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory... OMIM:614748
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... OMIM:208230
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Ankle clonus, Aspiration pneumonia, Dysphagia ORPHA:52368
Spondyloepimetaphyseal Dysplasia, Irapa Type
Capitate-hamate fusion, Osteoarthritis, Limited elbow extension, Genu valgum OMIM:271650
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Noonan Syndrome 14
Cryptorchidism, High, narrow palate, Cubitus valgus, Lymphopenia, Limited elbow extension OMIM:619745
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Arthrogry... ORPHA:163746
Laron Syndrome
Hypoplasia of penis, Osteoarthritis, Abnormality of the elbow ORPHA:633
Aortic Aneurysm, Familial Thoracic 12
Arthritis, Chronic pulmonary obstruction, Spontaneous pneumothorax, High palate OMIM:619825
Ulnar Hemimelia
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... ORPHA:93320
Kabuki Syndrome 1
Joint dislocation, Hemolytic anemia, Crossed fused renal ectopia, Anal stenosis, Congenital hip d... OMIM:147920
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hepatomegaly, Splenomegaly, Delayed epiphyseal ossification, Abdominal distention, ... OMIM:602557
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis OMIM:608885
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Cryptorchidism, Osteoarthritis, Generalized joint laxity, Osteoporosis, Hip dislocati... OMIM:618000
Enthesitis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Abnormality of the elbow, Enthesitis, Arth... ORPHA:85438
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash, Generalized mornin... ORPHA:85436
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Flexion contracture, Pneumonia, Right ventricular hypertrophy OMIM:253700
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Cardiomegaly OMIM:601005
Desbuquois Dysplasia 1
Joint dislocation, Joint laxity, Neonatal respiratory distress, Phalangeal dislocation, Osteoarth... OMIM:251450
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Generalized bone demineralization, Abnormal bone ossification, Hepatic hemangioma, ... ORPHA:73230
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... OMIM:259100
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep... ORPHA:411536
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, Vomiting, Gastroesophageal refl... OMIM:270400
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Pleural effusion, Gastroesophageal reflux, Chylothorax, Intestina... OMIM:616843
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:276152
Cystic Fibrosis
Osteopenia, Recurrent respiratory infections, Sinusitis, Meconium ileus, Reduced forced expirator... ORPHA:586
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Nausea and vomiting, Skin rash, Anorexia, Abdom... ORPHA:509
Isotretinoin-Like Syndrome
Cleft palate, Feeding difficulties, Gastroesophageal reflux, Abnormality of the pulmonary veins, ... ORPHA:2306
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia OMIM:613177
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Pneumonia ORPHA:1867
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Joint laxity, Juvenile myelomonocytic leukemia, Splenomegaly, Cryptorchidism, Hepatosplenomegaly,... OMIM:613563
Hereditary Hyperekplexia
Joint dislocation, Joint stiffness, Hiatus hernia, Hip dislocation, Gastroesophageal reflux, Esop... ORPHA:3197
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:913
Lyme Disease
Nausea and vomiting, Uveitis, Arthritis, Joint swelling, Infectious encephalitis ORPHA:91546
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Renal hypoplasia OMIM:612918
Scleromyxedema
Abnormality of the gastrointestinal tract, Abnormality of the kidney, Hypoperistalsis, Abnormal l... ORPHA:167635
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Parathyroid hypoplasia ORPHA:2237
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures, Dysphagia, Aspiration pneumonia, Cough ORPHA:216866
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Osteomalacia, Hiatus hernia, Joint stiffness, Abnormal joint morph... ORPHA:1901
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis, Dysphagia ORPHA:397744
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Enlarged joints, Osteoarthritis, Limitation of joint mobility, Abn... ORPHA:1427
Camurati-Engelmann Disease
Hepatomegaly, Anorexia, Feeding difficulties in infancy, Splenomegaly, Craniofacial osteosclerosi... ORPHA:1328
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Ketonuria, Lacticaciduria, Feeding difficulties, Aspiration pneumonia, Left ventric... OMIM:619167
Cranioectodermal Dysplasia 2
Joint laxity, Hepatomegaly, Renal insufficiency, Cholangitis, Craniosynostosis, Splenomegaly, Rec... OMIM:613610
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Malignant gastrointestinal tract tumors, Pancreatic adenocarcin... ORPHA:99889
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... ORPHA:60025
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Feeding difficul... OMIM:163950
Treacher-Collins Syndrome
Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia ORPHA:861
Hemophilia B
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage OMIM:306900
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... OMIM:219800
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Annular pancreas, Decreased serum insulin-like growth factor 1 OMIM:618162
Vertical Talus, Congenital
Arthritis OMIM:192950
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Feeding difficulties in in... ORPHA:314655
Mucopolysaccharidosis Type 2
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Upper... ORPHA:580
Eec Syndrome
Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat... ORPHA:1896
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist ORPHA:1657
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Feeding difficulties in infancy, Vesicoureteral reflux, Hepat... ORPHA:116
Cholera
Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, Vomiting, Abdo... ORPHA:173
Alkaptonuria
Arthropathy, Vertebral fusion, Elevated urinary homogentisic acid, Nephrolithiasis, Limited shoul... OMIM:203500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Hip subluxation, Delayed epiphyseal ossification, Premature osteoarthritis, General... ORPHA:93360
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Renal insufficiency, Abnormal acetabulum morphology, Hypospadia... ORPHA:397715
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Intestinal malrotation, Malformation... OMIM:249000
Pseudoachondroplasia
Joint laxity, Genu recurvatum, Limited hip extension, Ulnar deviation of the wrist, Irregular car... OMIM:177170
Fraser Syndrome 2
Hypoplasia of the thymus OMIM:617666
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Hypoventilation, Joint laxity, Apnea, Breathing dysregulation, Cryptorchidism, Abnorm... ORPHA:438213
Osteogenesis Imperfecta
Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Dislocated radial ... ORPHA:666
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neopl... ORPHA:424016
Monosomy 18Q
Joint hypermobility, Bilateral cryptorchidism, High palate, Micropenis, Secondary growth hormone ... ORPHA:1600
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P... OMIM:131100
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Nephrolithiasis, Polycys... OMIM:269700
Geleophysic Dysplasia 3
Hepatomegaly, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Respiratory fai... OMIM:617809
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Acne, Osteoporosis ORPHA:77296
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki... ORPHA:79233
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Tetrasomy 9P
Joint dislocation, Myositis, Biliary atresia, High palate, Micropenis, Bifid uvula, Absent gallbl... ORPHA:3310
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Impaired T cell function OMIM:192430
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Rickets, Genu valgum, Renal phosphate wasting, Renal tubular dysfun... OMIM:307800
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Hypospadias, Esophagitis, Feeding difficulties ORPHA:79350
Choreoacanthocytosis
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Protruding tongue,... ORPHA:2388
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone stimulation t... ORPHA:96182
Congenital Tracheal Stenosis
Respiratory distress, Meckel diverticulum, Abnormality of the kidney, Fetal ascites, Abnormal sto... ORPHA:141127
Loeys-Dietz Syndrome 5
Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus hernia, Osteoarthritis, Cle... OMIM:615582
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Flexion contracture, Premature osteoarthritis, Recurrent pneumonia, Cleft palate OMIM:215150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal atresia, Anal stenosis, Hydroureter, Feeding difficulties in infancy, Hypertrophy of the uri... ORPHA:280633
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Neurogenic bladder, Gastric ulcer, Decreased circ... OMIM:604928
9Q33.3Q34.11 Microdeletion Syndrome
Prominent metopic ridge, Epistaxis, Abnormality of the kidney, Cryptorchidism, Asthma, Patellar a... ORPHA:495818
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, Polycystic ovaries, Cirrhosis, H... OMIM:608594
Infantile Neuroaxonal Dystrophy
Flexion contracture, Apneic episodes in infancy, Constipation, Aspiration pneumonia ORPHA:35069
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Gastroesophageal reflux, Abnormality of the wrist, Osteomalacia,... ORPHA:198
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Recurrent respiratory infections, Ivory epiphyses of the distal phalanges of the hand... OMIM:190350
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Pituitary corticotropic cell adenoma... ORPHA:96253
Opitz Gbbb Syndrome
Enlarged ovaries, Prominent metopic ridge, Hypospadias, Tracheomalacia, Craniosynostosis, Feeding... ORPHA:2745
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hip contracture, Congenital hip dislocation, Hypercapnia, Poor ... ORPHA:2020
Alkaptonuria
Joint dislocation, Joint stiffness, Osteoarthritis, Nephrolithiasis, Reduced bone mineral density... ORPHA:56
Multiple Epiphyseal Dysplasia Type 4
Dislocation of the femoral head, Joint stiffness, Flexion contracture, Premature osteoarthritis, ... ORPHA:93307
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... ORPHA:93311
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... OMIM:186580
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Pneumonia, Jaundice, Vomiting, Macroorchidism ORPHA:90790
Marshall-Smith Syndrome
Decreased hip abduction, Apnea, Recurrent fractures, Large sternal ossification centers, Craniosy... OMIM:602535
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Urinary incontinence, Small intestinal dysmotility, Feeding difficulties,... OMIM:619482
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Gout, Hyperuricosuria, High palat... OMIM:300661
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Arthritis, Cervical subluxation OMIM:184100
Orofaciodigital Syndrome Ix
High palate, Recurrent aspiration pneumonia, Cleft palate, Camptodactyly OMIM:258865
Ethylene Glycol Poisoning
Renal insufficiency, Gastritis, Nausea, Abnormal pattern of respiration, Tachypnea, Episodic resp... ORPHA:31826
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypospadias, Pneumonia, Delayed closure of the anterior fontane... OMIM:264090
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Prominent metopic ridge, Urinary incontinence, I... ORPHA:2729
Doors Syndrome
Respiratory distress, Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Sag... ORPHA:79500
Okur-Chung Neurodevelopmental Syndrome
Protruding tongue, Decreased circulating antibody level, Feeding difficulties, Constipation, High... OMIM:617062
Charge Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Parathyroid hypop... OMIM:214800
Multiple Osteochondromas
Abnormality of the knee, Intestinal obstruction, Pneumothorax, Abnormal carpal morphology, Femoro... ORPHA:321
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, ... ORPHA:353281
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Metachromatic Leukodystrophy
Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Abnormal gallbladder morph... ORPHA:512
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Renal steatosis, Gout, Hepatic steatosis ORPHA:412
Arterial Tortuosity Syndrome
Respiratory distress, Craniosynostosis, Hiatus hernia, Dyspnea, Pulmonary artery stenosis, Myocar... ORPHA:3342
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Splenomegaly, Aplasia of the epiglottis, Horseshoe kidney OMIM:617088
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, Chronic constipation, High palate, Recurrent aspir... OMIM:300472
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Cleft palate, Joint contracture of the hand, Camptodactyly, Pelvic kidney, Recurr... OMIM:247200
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Arthri... OMIM:161700
Progeroid Short Stature With Pigmented Nevi
Diabetes mellitus, Impaired T cell function, Delayed puberty OMIM:176690
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Knee dislocation, Hepatic fibrosis, Gastroesophageal r... OMIM:619534
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Renal cyst, Hepatoblastoma, Hepatomegaly, Neonatal respiratory distress, ... OMIM:312870
Hemophilia A
Osteoarthritis, Joint hemorrhage OMIM:306700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Hypospadias, Decreased response to growth hormone stimulation test, Tracheomalacia... ORPHA:444077
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Orthopnea, Eosinophilia, Cardiom... ORPHA:75565
Marshall Syndrome
Osteoarthritis, High palate, Cleft palate, Genu valgum ORPHA:560
Coffin-Siris Syndrome 1
Joint laxity, Recurrent respiratory infections, Hydroureter, Hypospadias, Intestinal malrotation,... OMIM:135900
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Hip di... ORPHA:220386
Coffin-Siris Syndrome
Joint laxity, Hypospadias, Cryptorchidism, Recurrent upper respiratory tract infections, Horsesho... ORPHA:1465
Spondyloepimetaphyseal Dysplasia, Missouri Type
Osteoarthritis, Limited elbow extension, Genu varum OMIM:602111
Hypermobile Ehlers-Danlos Syndrome
Nausea and vomiting, Joint dislocation, Apnea, Malabsorption, Elbow dislocation, Osteoarthritis, ... ORPHA:285
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal acetabulum morphology, Limb joint contracture, Abnormal enchondral ossification, Delayed... ORPHA:93314
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Malnutrition, Flexion contracture, Urinary urgency, Urinary r... ORPHA:99027
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High palate, Gastroesophage... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, High palate, Gastroesophage... ORPHA:353277
Pancreatoblastoma
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Abnormal lymph node morphology, Vomitin... ORPHA:677
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... OMIM:616268
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia, Feeding difficulties ORPHA:95232
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Recurrent urinary tract infections, Hypospadias, Recurrent skin infections, Decreased... ORPHA:3455
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis, Decreased level of D-mannose in... OMIM:109650
Classical Ehlers-Danlos Syndrome
Osteopenia, Phalangeal dislocation, Hiatus hernia, Osteoarthritis, Rectal prolapse, Generalized j... ORPHA:287
Cysticercosis
Increased circulating antibody level ORPHA:1560
Monosomy 22
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Joint laxity, Hypospadias, Portal hypertension, Urethrovaginal... OMIM:243800
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Combined Oxidative Phosphorylation Deficiency 25
Chronic constipation, Aspiration pneumonia, Feeding difficulties OMIM:616430
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Xerostomia, Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivit... ORPHA:2363
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Stickler Syndrome
Joint dislocation, Recurrent respiratory infections, Protrusio acetabuli, Feeding difficulties in... ORPHA:828
Idiopathic Camptocormia
Abnormal inflammatory response, Myositis, Osteoarthritis, Myelitis ORPHA:1320
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Acromegaly
Acne, Dysuria, Elevated circulating growth hormone concentration, Osteoarthritis, Wide penis, Lon... ORPHA:963
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Knee osteoarthritis, High palate, Intervertebral disc degeneration OMIM:619656
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... ORPHA:284984
Pmm2-Cdg
Respiratory distress, Osteopenia, Multiple joint contractures, Hepatic fibrosis, Vomiting, Aspira... ORPHA:79318
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Fontaine Progeroid Syndrome
Absent nipple, Craniosynostosis, Protruding tongue, Cryptorchidism, High, narrow palate, Pneumoth... OMIM:612289
Somatomammotropinoma
Dysuria, Elevated circulating growth hormone concentration, Osteoarthritis, Pituitary adenoma, Ma... ORPHA:314769
Loeys-Dietz Syndrome 3
Joint laxity, Protrusio acetabuli, Eosinophilic infiltration of the esophagus, Craniosynostosis, ... OMIM:613795
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... OMIM:620186
Marfan Syndrome
Genu recurvatum, Protrusio acetabuli, Emphysema, Pneumothorax, Premature osteoarthritis, Narrow p... OMIM:154700
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... ORPHA:740
Hunter-Macdonald Syndrome
Hypospadias, Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the ha... OMIM:611962
Vascular Ehlers-Danlos Syndrome
Joint dislocation, Congenital hip dislocation, Hypospadias, Cryptorchidism, Osteoarthritis, Pneum... ORPHA:286
Yunis-Varon Syndrome
Wide cranial sutures, Absent nipple, Hypospadias, Congenital hip dislocation, Absent sternal ossi... OMIM:216340
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714

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 Wipf1

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 Wipf1.

No publications found that use IMPC mice or data for Wipf1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Wipf1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Wipf1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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