Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
forkhead box P3
Synonyms:
scurfin,  JM2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Foxp3 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 Foxp3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042

The table below shows human diseases predicted to be associated to Foxp3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Recurrent otitis media, Recurrent pneumonia OMIM:243110
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... ORPHA:444463
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Chilblain Lupus 2
Chilblains OMIM:614415
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly... ORPHA:331206
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... OMIM:618982
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:240500
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... OMIM:607594
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... OMIM:212050
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp... OMIM:618935
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco... ORPHA:911
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos... OMIM:616871
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... OMIM:300400
Peeling Skin Syndrome 5
Epidermal acanthosis, Scaling skin OMIM:617115
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen... ORPHA:277
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar... ORPHA:98798
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr... OMIM:615767
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... ORPHA:3361
Ledderhose Disease
Lack of skin elasticity ORPHA:199251
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Centrifugal Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin ORPHA:90156
Immunodeficiency 32B
Hypoalbuminemia, Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegal... OMIM:226990
Immunodeficiency 68
Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammagl... OMIM:601457
Testes, Rudimentary
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism OMIM:273150
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Familial Reactive Perforating Collagenosis
Abnormal epidermal morphology, Inflammatory abnormality of the skin, Maculopapular exanthema, Cru... ORPHA:79147
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... ORPHA:169154
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Tooth Agenesis, Selective, 8
Dry skin, Sparse eyebrow, Sparse hair OMIM:617073
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... OMIM:615285
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Immunodeficiency 27A
Pneumonia, Hypoalbuminemia, Diarrhea, Increased circulating IgG level, Anorexia, Hepatosplenomega... OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Absent pubi... ORPHA:2269
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni... OMIM:603909
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased C... OMIM:607271
Generalized Eruptive Histiocytosis
Hypereosinophilia, Maculopapular exanthema, Leukemia, Pruritus, Histiocytosis ORPHA:157991
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce... OMIM:617241
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal... OMIM:616622
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Erythroderma, Scaling skin OMIM:113800
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane... OMIM:601859
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,... OMIM:620603
Immunodeficiency 53
Recurrent otitis media, Recurrent upper respiratory tract infections, Skin rash, Recurrent pneumonia OMIM:617585
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Peeling Skin Syndrome 3
Abnormal hair morphology, Erythema, White scaling skin OMIM:616265
Immunodeficiency 46
Failure to thrive, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Ane... OMIM:616740
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Recu... OMIM:613101
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate... ORPHA:398124
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... ORPHA:98813
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased alpha-globulin, Increased circulating antibody level OMIM:235900
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop... ORPHA:217390
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Pruritus... ORPHA:37748
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,... ORPHA:163525
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepat... ORPHA:100075
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut... OMIM:618282
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph... OMIM:617006
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I... OMIM:619773
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... OMIM:615631
Verrucous Hemangioma
Epidermal acanthosis, Inflammatory abnormality of the skin ORPHA:464318
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ... OMIM:619644
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... OMIM:620532
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Autoimmune antibody pos... ORPHA:60026
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski... OMIM:603552
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi... OMIM:618495
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... OMIM:618806
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Diffuse Cutaneous Mastocytosis
Thickened skin, Diarrhea, Abnormality of the spleen, Erythroderma, Hepatomegaly, Abdominal pain, ... ORPHA:79456
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231226
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c... OMIM:614493
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Sparse eyebrow, Hepatic failure, Orthokeratosis, Cholestasis, Dry skin, Portal ... OMIM:607626
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Failure to thrive, Osteomyelitis, Autoi... ORPHA:47
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... OMIM:618523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... OMIM:619752
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... OMIM:613011
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Recurrent bronchitis, Arthritis OMIM:216950
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co... OMIM:269840
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegaly, Mediastinal lymp... ORPHA:158029
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Scaling skin OMIM:105250
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope... OMIM:619164
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Arthritis ORPHA:2582
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... OMIM:606367
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Scaling skin ORPHA:530838
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, I... OMIM:615513
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Anorexia... ORPHA:824
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos... ORPHA:2688
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Hearing impairment, Failure to thrive, Recurrent otitis media, ... ORPHA:397596
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Abnormal bleeding, Lymphopenia, Leuko... ORPHA:319218
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Anonychia With Flexural Pigmentation
Dry skin, Anonychia OMIM:106750
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Young Syndrome
Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Bronchiectasis, Rec... OMIM:279000
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Sézary Syndrome
Palmoplantar keratoderma, Ectropion, Dry skin, Abnormal lymphocyte morphology, Abnormal pleura mo... ORPHA:3162
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Sensorineural hearing impairment, Erythroderma, Neutropenia, Reduced natural ki... ORPHA:540
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Ichthyosis Vulgaris
Dry skin, Absent keratohyalin granules OMIM:146700
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Increased mea... ORPHA:98870
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepa... OMIM:308230
Omenn Syndrome
Pneumonia, Thickened skin, Edema, Failure to thrive, Dry skin, Abnormal lymphocyte morphology, Le... ORPHA:39041
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Poikiloderma With Neutropenia
Recurrent pneumonia, Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Increased ... OMIM:604173
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Immunodeficiency 15A
Decreased proportion of memory B cells, Acne inversa, Chronic mucocutaneous candidiasis, Cutaneou... OMIM:618204
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Pruritus, Erythroderma OMIM:270300
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulating C-reactive protei... OMIM:607115
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Hypogon... OMIM:614840
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Growth delay, Failure to thrive, Hypertr... OMIM:613561
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
C1Q Deficiency 3
Discoid lupus rash, Antinuclear antibody positivity OMIM:620322
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat... OMIM:620565
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Agammaglobulinemia, Epica... ORPHA:33110
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal... ORPHA:248
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati... OMIM:615952
Classic Mycosis Fungoides
Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomega... ORPHA:2584
Eosinophilic Gastroenteritis
Hypoalbuminemia, Allergic rhinitis, Atopic dermatitis, Protein-losing enteropathy, Hematochezia, ... ORPHA:2070
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut... OMIM:243700
Acral Peeling Skin Syndrome
Erythema, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Scaling skin ORPHA:263534
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro... OMIM:613021
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Diarrhea, Hearing impairment, Ascites, F... ORPHA:858
Pemphigus Foliaceus
Erythema, Psoriasiform dermatitis, Autoimmunity, Crusting erythematous dermatitis, Pustule, Skin ... ORPHA:79481
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa... OMIM:602450
Chronic Actinic Dermatitis
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Epidermal a... ORPHA:330064
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... ORPHA:480520
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Pruritus, Cholestasis, Predominantly der... ORPHA:293173
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Cryptorchidism, Unilateral Or Bilateral
Unilateral cryptorchidism, Cryptorchidism OMIM:219050
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Abnormality of the endocrine s... ORPHA:753
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Dermoodontodysplasia
Nail dysplasia, Trichodysplasia, Dry skin OMIM:125640
Cone-Rod Dystrophy 1
Hypogonadism OMIM:600624
Immunodeficiency 88
Eosinophilia OMIM:619630
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema OMIM:212360
Anemia, Congenital Dyserythropoietic, Type Iv
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... OMIM:613673
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Pa... OMIM:615234
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev... OMIM:620632
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis, Arthritis ORPHA:139436
Idiopathic Localized Lipodystrophy
Pruritus, Scaling skin, Inflammatory abnormality of the skin, Erythema ORPHA:90158
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis OMIM:211400
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Freckled genitalia, Diarrhe... ORPHA:79076
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Angioedema, Nausea and vomiting, Sensorineural hearing impairment, Hematuria, Inflammat... ORPHA:36412
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
Huriez Syndrome
Dry skin, Lack of skin elasticity ORPHA:384
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ... ORPHA:2902
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Anorexia, Respiratory distress, Nausea and vomiting, Splenomeg... ORPHA:79312
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopeni... ORPHA:507
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Weight loss, Anorexia, Hepat... ORPHA:781
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Protracted diarrhea, Weight loss, Anorexia, Hepatomegaly, Abdominal pa... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Protracted diarrhea, Weight loss, Anorexia, Hepatomegaly, Abdominal pa... ORPHA:100082
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Beta-Thalassemia Major
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231214
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Hematuria, Ery... ORPHA:99827
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ... OMIM:256500
Ichthyosis Hystrix, Curth-Macklin Type
Scaling skin OMIM:146590
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Acute ... ORPHA:572
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin rash, Pustule, Myoca... ORPHA:31205
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis OMIM:147050
Dyskeratosis Congenita
Periodontitis, Hearing impairment, Premature graying of hair, Displacement of the urethral meatus... ORPHA:1775
Hypereosinophilic Syndrome, Idiopathic
Pruritus, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Diarrhea, Cervical lymphadenopathy, Leuk... ORPHA:83313
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Puncta... OMIM:617388
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Neutrophilic infiltration... OMIM:618048
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Granu... OMIM:306400
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... OMIM:619693
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology... ORPHA:85450
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Hearing impairment, Recurrent respiratory infections,... ORPHA:33355
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Hypotension, Lack of bowel sounds, Right ventricular failure, Melena, ... ORPHA:100080
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Weight loss, Abdominal pain, Hypoproteinemia, Ascites, Pleural ... ORPHA:90362
Graft Versus Host Disease
Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru... ORPHA:39812
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent ... ORPHA:486
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Perinuclear antineutro... ORPHA:60
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Rheumatoid factor positive, Skin ulcer,... ORPHA:90280
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Poems Syndrome
Thickened skin, Increased circulating prolactin concentration, Increased circulating antibody lev... ORPHA:2905
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Fine hair, Alopecia of scalp, Scaling skin, Epidermal acanthosis, Slow-growing... ORPHA:90368
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Keratosis Palmoplantaris Striata Ii
Abnormal hair morphology, Epidermal acanthosis, Abnormality of the nail OMIM:612908
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Adult-Onset Still Disease
Erythema, Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concen... ORPHA:829
Psoriasis 2
Epidermal acanthosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Beta-Thalassemia
Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Hypertrophic cardiomyopathy, Pallor, Sp... ORPHA:848
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
8Q22.1 Microdeletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Hypogonadism, Telecanthus, Cryptorchidism, Sparse eyelashe... ORPHA:178303
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co... ORPHA:3202
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti... OMIM:613502
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr... OMIM:616576
Waldenström Macroglobulinemia
Diarrhea, Hearing impairment, Cutis marmorata, Anorexia, Periorbital edema, Hepatomegaly, Leukemi... ORPHA:33226
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl... ORPHA:79301
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Scal... OMIM:604536
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Isolated Agammaglobulinemia
Pneumonia, Abnormality of neutrophils, Skin ulcer, Abnormal lymphocyte morphology, Autoimmunity, ... ORPHA:229717
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... OMIM:618108
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hearing impairment, Persistence of hemoglobin F, Pancytopenia, Cryptorchidism, E... OMIM:617052
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... OMIM:276700
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Pediatric Systemic Lupus Erythematosus
Diarrhea, Microangiopathic hemolytic anemia, Lymphopenia, Dark urine, Hematuria, Decreased circul... ORPHA:93552
Follicular Lymphoma
Lymphedema, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum mor... ORPHA:545
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Peeling Skin Syndrome 6
Atopic dermatitis, Scaling skin, Pruritus, Dry skin OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Scaling skin OMIM:617571
Ichthyosis, Congenital, Autosomal Recessive 7
Epidermal acanthosis, Erythroderma OMIM:615022
Desmoplastic Small Round Cell Tumor
Abdominal distention, Ascites, Ileus, Nausea and vomiting, Hepatomegaly, Cachexia, Weight loss, L... ORPHA:83469
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Congenital Disorder Of Glycosylation, Type Iir
Low-set ears, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, De... OMIM:301045
Galactosemia Iii
Aminoaciduria, Galactosuria, Vomiting, Failure to thrive, Splenomegaly, Sensorineural hearing imp... OMIM:230350
Wolman Disease
Reduced lysosomal acid lipase activity, Vomiting, Failure to thrive, Adrenal calcification, Acute... OMIM:620151
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... OMIM:615816
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair ORPHA:492
Muckle-Wells Syndrome
Nephropathy, Vasculitis, Nephrotic syndrome, Progressive sensorineural hearing impairment, Recurr... ORPHA:575
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Hepatomega... OMIM:603554
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... OMIM:615214
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis, Hypergonadotropic hypogonadism ORPHA:1014
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E... OMIM:224120
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Fail... ORPHA:905
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Hypochromic anemia, Gastrointestinal angiodysplasia, Mitral regurgitation,... ORPHA:99147
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613736
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Skin ras... OMIM:617591
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Wolman Disease
Hepatic failure, Malnutrition, Ascites, Adrenal calcification, Adrenal insufficiency, Nausea and ... ORPHA:75233
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Acanthocytosis, Parakeratosis, Eryt... OMIM:604777
Aggressive Systemic Mastocytosis
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Weight loss, Neutropenia, Anorexia, Le... ORPHA:98850
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ichthyosis, Splenomegaly ORPHA:2274
7P22.1 Microduplication Syndrome
Cryptorchidism ORPHA:314034
Whim Syndrome
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel... ORPHA:51636
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Eosinophi... ORPHA:353298
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Skin ulcer, Failure to thrive, Elevated circulating a... OMIM:170100
Pulmonary Blastoma
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma ORPHA:64741
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos... ORPHA:77297
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Skin rash, ... OMIM:260920
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Diarrhea, Hepatosplenomegaly, Decreased mean corpuscular volume, Ellipto... OMIM:618278
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis ORPHA:160148
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas... OMIM:618116
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Pruritus, Erythroderma ORPHA:280785
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Cryptorchidism, Ambiguous genitalia, male, Micropenis, Perineal hypospadias, Abnor... OMIM:264600
Galactose Epimerase Deficiency
Aminoaciduria, Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding di... ORPHA:79238
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba... ORPHA:846
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz... OMIM:300908
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Chilblains, Thrombocytopenia OMIM:612952
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Erythroderma OMIM:133200
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Cutis ma... ORPHA:3260
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Diarrhea, Decreased body weight, Hematuria, Glomerulonephritis, Tubuloint... ORPHA:340
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failu... ORPHA:139402
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,... ORPHA:906
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating lactate dehydrogena... ORPHA:284426
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Increased circulating lactate dehydrogenase concentration, Abnormal ... ORPHA:86841
Dowling-Degos Disease 4
Epidermal acanthosis, Pruritus OMIM:615696
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Premature grayi... ORPHA:381
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Increased mean corpuscular volume, Atresia of the external auditor... OMIM:300946
Atelis Syndrome 1
Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Downslanted pa... OMIM:620184
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ... ORPHA:436159
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Macrophage Activation Syndrome
Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat... ORPHA:158061
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Sensorineural hearing impairment, Cachexia, Cirrhosis, Weight loss, Abdominal distentio... ORPHA:298
Shwachman-Diamond Syndrome
Abnormality of the outer ear, Aplastic anemia, Hearing impairment, Hypopituitarism, Pancytopenia,... ORPHA:811
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Pleural Mesothelioma
Abnormal pleura morphology, Pleural effusion, Weight loss, Lymphadenopathy, Hepatomegaly, Abnorma... ORPHA:50251
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Systemic lupus erythematosus, Recurrent sinopulmonary infections, Excessive sk... ORPHA:498359
Caudal Appendage-Deafness Syndrome
Cryptorchidism ORPHA:1123
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody... OMIM:620321
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Cystic Echinococcosis
Peritoneal abscess, Pulmonary cyst, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia,... ORPHA:400
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Alpha-Heavy Chain Disease
Ascites, Malabsorption, Splenomegaly, Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Lymphaden... ORPHA:100025
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo... OMIM:602390
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to thrive, Abnormal he... ORPHA:79333
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Reduced natural killer cell activity, Hepatom... OMIM:603553
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Congestive heart failure, Pallor, Sensorineural hearing impairment, Paroxysmal atrial t... ORPHA:49827
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Hereditary Folate Malabsorption
Cheilitis, Gastroesophageal reflux, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... ORPHA:90045
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... OMIM:613839
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Babesiosis
Hepatic failure, Anorexia, Leukopenia, Renal insufficiency, Splenomegaly, Nausea and vomiting, Th... ORPHA:108
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Pulmonary hem... ORPHA:79124
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... ORPHA:231154
Classic Galactosemia
Diarrhea, Cryptorchidism, Decreased fertility in females, Primary amenorrhea, Hepatomegaly, Prema... ORPHA:79239
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep... ORPHA:99828
Keratolytic Winter Erythema
Pustule, Hyperhidrosis ORPHA:50943
Tafro Syndrome
Increased circulating interleukin 6 concentration, Anasarca, Increased circulating lactate dehydr... ORPHA:457077
Testicular Anomalies With Or Without Congenital Heart Disease
Microphallus, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Te... OMIM:615542
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne... OMIM:615401
Niemann-Pick Disease, Type A
Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circula... OMIM:257200
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Keratoconus, Cataract, Eczematoid dermatitis, Pruritus, Con... OMIM:603165
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti... OMIM:601495
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Skin rash, Splenomegaly, Joint swelling, Lymphadenopathy, Arthritis, Elevated c... ORPHA:85414
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Ankyloblepharon, Cryptorchidism ORPHA:1074
Toxic Epidermal Necrolysis
Erythema, Abnormal vagina morphology, Acute hepatic failure, Nausea and vomiting, Weight loss, Ne... ORPHA:537
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Anorexia, Abdominal pain, Pu... ORPHA:810
Aicardi-Goutieres Syndrome 6
Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Zygomycosis
Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis... ORPHA:73263
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Intellectual Developmental Disorder, Fra12A Type
Recurrent lower respiratory tract infections, Erythroderma OMIM:136630
Mucopolysaccharidosis-Plus Syndrome
Thickened skin, Epicanthus, Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, ... OMIM:617303
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Ichthyosis With Erythrokeratoderma
Erythema, Erythroderma, Scaling skin, Epidermal acanthosis, Pruritus OMIM:620507
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato... OMIM:609628
Kikuchi-Fujimoto Disease
Erythema, Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Hepatomega... ORPHA:50918
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Leukocytosis, Pustule, Parakeratosis, Oligoarthritis, Neutroph... OMIM:614204
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Hepatoportal Sclerosis
Hypersplenism, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascites, Intrahepatic por... ORPHA:64743
Bazex Syndrome
Palmoplantar keratoderma, Lung adenocarcinoma, Parakeratosis, Acanthosis nigricans, Scaling skin,... ORPHA:166113
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Pustular rash, Lymphopenia, Cutis marmorata, Follicular hyperplasia, Pustule, Telangiec... OMIM:615934
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Coproporphyria, Hereditary
Diarrhea, Vomiting, Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic ... OMIM:121300
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Nausea and vomiting, Renal insufficiency, Renal tubular dysfunction, Hepato... ORPHA:289916
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Autoimmune Hepatitis
Inflammation of the large intestine, Cirrhosis, Glomerulonephritis, Acute hepatitis, Jaundice, As... ORPHA:2137
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat... OMIM:300755
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Noonan Syndrome 8
Low-set ears, Webbed neck, Eczematoid dermatitis, Failure to thrive, Downslanted palpebral fissur... OMIM:615355
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased circulating IgE level, ... ORPHA:449395
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Rift Valley Fever
Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Abnormal blee... ORPHA:319251
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infecti... OMIM:618131
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism OMIM:274205
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Malabsorption, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar... OMIM:620233
Acrocephalopolydactyly
Epicanthus, Hepatosplenomegaly, Protuberant abdomen, Microtia ORPHA:221054
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Pallor, R... OMIM:611590
Schopf-Schulz-Passarge Syndrome
Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, Ridged nail, Narrow nail, ... OMIM:224750
Propionic Acidemia
Hyperglycinuria, Vomiting, Eczematoid dermatitis, Cardiomyopathy, Failure to thrive, Increased le... OMIM:606054
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Dry skin, Nail dyst... ORPHA:2890
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent... OMIM:615617
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Whipple Disease
Diarrhea, Cachexia, Anorexia, Hepatomegaly, Abdominal pain, Pedal edema, Gastrointestinal hemorrh... ORPHA:3452
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Nausea and vomiting, Renal insufficiency, Hepatomegaly, Lethargy, Anemia ORPHA:28
Porphyria Cutanea Tarda
Portal inflammation, Poor wound healing, Hepatic steatosis, Decreased circulating hepcidin concen... ORPHA:101330
Amyloidosis, Primary Localized Cutaneous, 3
Dry skin OMIM:617920
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...