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Gene: Il2rb MGI:96550

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Gene Summary

Name:
interleukin 2 receptor, beta chain
Synonyms:
IL15Rbeta,  IL-2/15Rbeta,  IL-15Rbeta,  Il-2Rbeta,  CD122,  IL-15 receptor beta chain

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal autopod morphology Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 6.85×10-12
abnormal ear morphology Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 2.29×10-11
abnormal coat appearance Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 1.81×10-07
abnormal coat/ hair morphology Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 1.81×10-07
female infertility Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 0.00
male infertility Il2rbtm1b(EUCOMM)Hmgu HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Il2rb 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 Il2rb by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Autoimmunity, Splenomegaly, Lymphad... OMIM:618495
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Antinuclear antibody positivity, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu... ORPHA:85410

The table below shows human diseases predicted to be associated to Il2rb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Autoimmunity, Absence of lymph node germinal center, Anti-thyroid peroxidase a... ORPHA:277
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... OMIM:618261
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:601859
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
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 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Alopecia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... ORPHA:169154
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
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
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... OMIM:300400
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal... ORPHA:98813
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... OMIM:301082
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Autoimmunity, Splenomegaly, Lymphad... OMIM:618495
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Immunodeficiency, Common Variable, 11
Failure to thrive, Decreased proportion of class-switched memory B cells, Decreased circulating I... OMIM:615767
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Immunodeficiency 27A
Rheumatoid factor positive, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Incr... OMIM:209950
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul... OMIM:614470
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Immunodeficiency 43
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... OMIM:241600
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Antinuc... OMIM:618048
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... OMIM:300635
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity, Follicular hyperplasia ORPHA:60026
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Autoimmun... ORPHA:331206
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Hypothyroidism, Increased circulating IgE le... OMIM:304790
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Spermatogenic Failure 17
Male infertility OMIM:617214
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... OMIM:616005
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pne... ORPHA:169160
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat... OMIM:619752
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytope... OMIM:102700
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr... OMIM:613011
Igg4-Related Aortitis
Autoimmunity, Increased circulating IgG4 level, Antinuclear antibody positivity, Cytoplasmic anti... ORPHA:449400
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, In... ORPHA:3261
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... ORPHA:169079
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... ORPHA:276
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... OMIM:619313
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur... OMIM:240500
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen... ORPHA:158061
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Decreased circulating... OMIM:618394
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Peeling Skin Syndrome 1
Brittle hair, Eosinophilia, Increased circulating IgE level, Onycholysis, Nail dystrophy OMIM:270300
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Griscelli Syndrome, Type 2
Silver-gray hair, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensitivity, Melanin... OMIM:607624
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... ORPHA:443811
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukopenia, Failur... ORPHA:33355
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss ORPHA:2902
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Failure to thrive, Antiphospholipid antibody positivity, Rheumatoi... OMIM:615934
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Lymphad... OMIM:615387
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Chronic hepatitis due to cryptosporidium... ORPHA:572
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Activated Pi3K-Delta Syndrome
Hepatomegaly, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody l... ORPHA:397596
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Impaired T cell function, Pure red cell a... OMIM:613179
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, L... OMIM:603554
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Rheumatoid factor positive, Eosinophilia, Abscess, Ataxia, I... OMIM:615816
Netherton Syndrome
Decreased circulating IgG level, Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyeb... OMIM:256500
Ataxia-Telangiectasia
Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG level, At... OMIM:208900
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... OMIM:617388
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Iron deficiency anemia, Neutropenia, Hypothyroidism,... ORPHA:37042
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Autoimmu... OMIM:243150
Schnitzler Syndrome
Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia ORPHA:37748
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... OMIM:613101
Immunodeficiency 51
Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocyte physiology, Pustule, Chronic mu... OMIM:613953
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche... OMIM:619126
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneo... OMIM:618282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur... OMIM:601457
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunodeficiency 22
Failure to thrive, Autoimmunity, Abscess, Thrombocytopenia, Decreased circulating total IgM, Asci... OMIM:615758
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Auto... ORPHA:47
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Decreased circulating antibody level, Neutropen... OMIM:193670
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Choreoathetosis, Increased circulating IgG level, Steppage gait, Gait disturbance, ... ORPHA:206594
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... OMIM:242700
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count OMIM:609981
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Alpha-Heavy Chain Disease
Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... OMIM:615952
Q Fever
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... ORPHA:781
Igg4-Related Submandibular Gland Disease
Autoimmunity, Increased circulating IgG4 level, Eosinophilia, Cholangitis, Retroperitoneal fibros... ORPHA:449432
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Fail... OMIM:614700
Lymphangiectasia, Intestinal
Abnormal hair morphology, Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, Sinusitis, Pneumonia,... ORPHA:83471
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Broad-based gait, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decr... OMIM:619705
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenis... ORPHA:228426
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Thrombocytopeni... ORPHA:905
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctiviti... OMIM:603552
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... OMIM:613812
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Abnormal f... ORPHA:75564
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227990
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Hepatomegaly OMIM:619175
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c... OMIM:620210
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu... OMIM:605309
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Agammaglobulinemia, Decreased circ... OMIM:300755
Chilblain Lupus
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... ORPHA:90280
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Sy... ORPHA:90033
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Antiphospholipid antibody positivity, Atrophic gastritis, Autoimmunity, Autoim... ORPHA:227982
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Increased mean p... ORPHA:84064
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Brittle hair, Increased circulating IgA level, Bilateral cryptorchidism, Abdom... OMIM:616395
Lead Poisoning
Small for gestational age, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abno... ORPHA:330015
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... OMIM:618935
Ataxia-Telangiectasia
Failure to thrive, Diabetes mellitus, Ataxia, Hypopigmentation of hair, Polycystic ovaries, Decre... ORPHA:100
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... OMIM:614480
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Insulin Autoimmune Syndrome
Autoimmunity, Insulin-resistant diabetes mellitus, Autoimmune antibody positivity, Weight loss, S... ORPHA:411593
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... OMIM:607765
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Ataxia, Abnormality of hair texture, Sparse or absent eyelashes, Gait disturbance, Pili torti, Ap... ORPHA:2891
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Failure to thri... OMIM:616740
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell m... ORPHA:760
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level, Leukopenia, Abn... ORPHA:2298
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Abnormal hair morphology, Paronychia, Increased circulating IgE level, Dystrophic f... ORPHA:2314
Acquired Partial Lipodystrophy
Autoimmunity, Decreased circulating complement C3 concentration, Lymphocytosis, Hepatic steatosis... ORPHA:79087
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ... OMIM:616084
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Agamma... ORPHA:33110
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... ORPHA:90362
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Increased circulating IgE level, Long eyelashes OMIM:616069
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... ORPHA:589
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormal toenail morphology, Increased circulating IgE level, Nail dystrophy ORPHA:89843
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Tyrosinemia Type 1
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone... ORPHA:549
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib... ORPHA:90060
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm... OMIM:209920
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Autoimmunity, Decreased proportion of CD3-positive T cells, Decreased circulat... ORPHA:275
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Decreased acid sphingomyeli... OMIM:607616
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
Felty Syndrome
Hepatomegaly, Autoimmunity, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Weight loss, Bone ma... ORPHA:47612
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi... ORPHA:514
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Weight loss, Hepatomegaly ORPHA:79238
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to walk, Incre... ORPHA:508533
Sézary Syndrome
Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Nail dystro... ORPHA:3162
Omenn Syndrome
Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Autoimmunity, Splenomegaly, Leukocytosis... ORPHA:39041
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Autoimmunity, Portal hypertension, Hypersplenism, Splenomegaly, Hepat... OMIM:613385
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral ... OMIM:242900
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke... ORPHA:157991
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Thymoma
Aplastic anemia, Autoimmunity, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal ly... ORPHA:99867
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Sp... OMIM:608233
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Systemic lupus erythematosus, Anemia, Low posterior hairline, Increas... OMIM:170100
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... OMIM:612541
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th... OMIM:229050
Galactosemia Iii
Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hepatomegaly OMIM:230350
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Candidiasis, Familial, 1
Abnormality of the endocrine system, Alopecia, Cutaneous anergy OMIM:114580
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Hyperconvex nail, Prominent eyelashes, Hepatosplenom... ORPHA:353298
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Inability to walk, Synophrys, Low anterior hairline... OMIM:617303
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Cholecystitis, Decrea... ORPHA:449395
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity ORPHA:391
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Sandhoff Disease
Splenomegaly, Failure to thrive, Ataxia, Hepatomegaly ORPHA:796
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp... OMIM:301074
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... ORPHA:186
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating ant... OMIM:617591
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Cryptorchidism, Increased circulating IgE level, Obesity, Hypogonadism ORPHA:3409
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Failure to thrive, Erythroid hypoplasia, R... OMIM:275350
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... ORPHA:85414
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis OMIM:612126
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly ORPHA:33574
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron... OMIM:619381
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Absce... ORPHA:400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp... ORPHA:293978
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Antinuclear antibody positivity, Orc... ORPHA:449563
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... OMIM:278000
Tempi Syndrome
Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Immunodeficiency, Common Variable, 6
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... OMIM:613496
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Anemia ORPHA:75563
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Increased circulat... ORPHA:634
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Abnormalit... ORPHA:2584
Obesity Due To Congenital Leptin Deficiency
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... ORPHA:66628
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Genital ulcers, Antinuclear antibody positivity, Lupus anticoagulant, Lymphopen... OMIM:616744
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ... ORPHA:91138
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard... ORPHA:292
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Immunodeficiency 9
Failure to thrive, Hypoplasia of the thymus, Difficulty walking OMIM:612782
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... OMIM:258360
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Glutathione Synthetase Deficiency
Hemolytic anemia, Ataxia, Neutropenia OMIM:266130
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Brucellosis
Liver abscess, Rheumatoid factor positive, Increased circulating IgG level, Leukopenia, Abnormali... ORPHA:1304
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... ORPHA:179494
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... OMIM:159550
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto... ORPHA:1959
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... OMIM:614878
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... ORPHA:319218
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia OMIM:614379
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... OMIM:618549
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Inflammatory abnormality of th... ORPHA:391487
Congenital Disorder Of Glycosylation, Type Iic
Widow's peak, Neutrophilia, Reduction of neutrophil motility OMIM:266265
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, White hair, Fine hair, Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas... ORPHA:232
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Choreoathetosis, Anemia, Neutropenia, Failure to thrive, Pancreatitis... ORPHA:79312
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Fair hair, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, A... OMIM:269920
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... ORPHA:2930
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Autoimmunity, Hepatitis, Hypoplasia of the thymus, R... ORPHA:436252
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level, Paronychia, Onychogryposis OMIM:614328
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iron deficien... OMIM:269200
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Ataxia, Failure to thrive in infancy, Fluctuati... OMIM:610377
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenome... ORPHA:1572
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:42642
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Alopecia, Aplastic anemia, Ataxia, Cryptorchidism, Fine hair, Premature graying of ... OMIM:613990
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr... ORPHA:79477
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Autoimmunity, Microcytic anemia, Thrombocytopen... ORPHA:906
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly ORPHA:172
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Macroorchidism, Male infertility, Oligozoospermia ORPHA:3000
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Pneumonia, Autoimmune thrombo... ORPHA:1855
Immunodeficiency 56
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... OMIM:615207
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Rhabdoid Tumor
Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insu... ORPHA:75233
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Mac... ORPHA:398124
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase... OMIM:224120
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss ORPHA:1164
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Simple Cryoglobulinemia
Viral hepatitis, Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Monoclonal ... ORPHA:91139
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... ORPHA:77297
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevat... OMIM:614034
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus ORPHA:90036
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Abnormal lymphocyte proliferation, Elevated gamma-glutamyltransferase level, ... OMIM:619573
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural ... ORPHA:540
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop... ORPHA:108
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuffici... ORPHA:2905
Pneumocystosis
Weight loss, Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... ORPHA:101330
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:3202
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inabili... OMIM:257200
Alveolar Echinococcosis
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic ... ORPHA:284
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... OMIM:616433
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Ataxia, Thromb... OMIM:214500
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic hormone excess, Increased... ORPHA:100083
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... OMIM:610333
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin... ORPHA:77259
Coproporphyria, Hereditary
Splenomegaly, Jaundice, Hepatomegaly OMIM:121300
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Smith-Kingsmore Syndrome
Curly hair, Large for gestational age, Cryptorchidism, Thrombocytopenia, Decreased circulating Ig... OMIM:616638
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo... OMIM:610199
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Impaired T cell function, Splenomegaly, Paronychia, Alopecia of scalp, Hypo... OMIM:201100
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding, Anemia OMIM:121270
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, Neutropenia, Thromb... ORPHA:520
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Chronic decreased circulating ... OMIM:300953
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Igg4-Related Dacryoadenitis And Sialadenitis
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinuclear anti... ORPHA:79078
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Amyloidosis, Familial Visceral
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly OMIM:105200
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... OMIM:214110
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Increa... ORPHA:454836
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... OMIM:250250
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... OMIM:260920
Kikuchi-Fujimoto Disease
Hepatomegaly, Alopecia, Generalized lymphadenopathy, Ataxia, Antinuclear antibody positivity, Thr... ORPHA:50918
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Iga Pemphigus
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Autoimmun... ORPHA:555905
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair ORPHA:1174
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ch... OMIM:615846
Trichohepatoenteric Syndrome 1
Hepatomegaly, Curly hair, Brittle hair, Hypospadias, Small for gestational age, Increased mean pl... OMIM:222470
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Weight loss, Ascites, Anemia ORPHA:2070
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia ORPHA:1046
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
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Infectious encephalit... ORPHA:2552
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Ataxia, Reduced natural killer cell activity, Splenomegaly, Jaundice,... OMIM:603553
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine signaling, Ane... ORPHA:158048
Pulmonary Blastoma
Weight loss ORPHA:64741
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... OMIM:235555
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, C... OMIM:620005
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... ORPHA:440713
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Impaired T cell function, Autoimmunity, Abnormal ly... ORPHA:1830
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, F... OMIM:619644
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Synophrys, Unsteady gait, Decreased circulating total IgM, Decreased circulating IgG leve... OMIM:300861
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Lymphadenopathy, Ovarian neop... ORPHA:2221
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:289390
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Mogs-Cdg
Hepatomegaly, Alopecia, Fair hair, External genital hypoplasia, Inappropriate antidiuretic hormon... ORPHA:79330
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic o... ORPHA:169090
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Dyskeratosis Congenita, Digenic
Failure to thrive, Alopecia, Sparse eyelashes, Decreased circulating total IgM, Nail dystrophy, D... OMIM:620040
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Ataxia, Thyroiditis, Weight loss, Iron deficiency anemia, Delayed pu... OMIM:212750
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252920
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatiti... ORPHA:449427
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating... OMIM:601847
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Ciliary Dyskinesia, Primary, 37
Female infertility, Hearing impairment OMIM:617577
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M... OMIM:618278
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hepatitis ORPHA:363523
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... ORPHA:2228
Mucopolysaccharidosis Type 7
Splenomegaly, Ascites, Hepatitis ORPHA:584
Coccidioidomycosis
Abnormal sperm morphology, Eosinophilia, Abscess, Abnormality of the endocrine system, Abnormalit... ORPHA:228123
Hereditary Orotic Aciduria
Splenomegaly, Abnormal toenail morphology, Impaired T cell function, Anemia ORPHA:30
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48104
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli... OMIM:613224
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Abscess, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis,... ORPHA:36234
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure ORPHA:664
Crandall Syndrome
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... ORPHA:202
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr... OMIM:256550
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Hypopigmentation of hair, Left v... OMIM:242840
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly... OMIM:614576
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair OMIM:620075
Hemochromatosis, Type 2A
Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly OMIM:602390
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Increased circula... ORPHA:319251
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly OMIM:620296
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Thrombocytosis, Ataxia, Portal hypertension, Splenomegaly, Leukocytos... OMIM:615688
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, Cu... OMIM:110100
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Hepatosplenomegaly... ORPHA:3260
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat... OMIM:613489
Dyskeratosis Congenita, Autosomal Recessive 5
Nail dystrophy, Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Decreased acid ceramidase activity OMIM:228000
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... ORPHA:64744
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Bone marrow hypocellularity, Small nail, Neutropenia, Failure ... OMIM:614520
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss ORPHA:33276
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252900
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Castleman Disease
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, F... ORPHA:160
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:306000
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Failure to thrive, Ataxia OMIM:619046
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Incr... OMIM:210250
Holocarboxylase Synthetase Deficiency
Alopecia, Ataxia, Thrombocytopenia, Weight loss ORPHA:79242
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Hurler-Scheie Syndrome
Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Autoimmune antibody positivity, Lymphadenopat... ORPHA:3386
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:614921
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Premature graying of hair, Leukopenia, White forelock, Hepatic fib... OMIM:613989
Wilson Disease
Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransf... OMIM:277900
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Failure to thrive, Anemia, Weight loss ORPHA:1842
Revesz Syndrome
Aplastic anemia, Ataxia, Nail pits, Fine hair, Bone marrow hypocellularity, Nail dystrophy, Spars... OMIM:268130
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy... ORPHA:88
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Sensorineural hearing impairment, Premature ovarian insufficiency, Female infertility OMIM:619518
Roifman Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Prominent eyelashes, Lymphadenopathy OMIM:616651
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Positive direct antiglobulin ... ORPHA:71275
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Macrovesicu... ORPHA:298
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline, Limb ataxia, Gait atax... OMIM:248500
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Failure to thrive, Increased circulating IgE level, Reduced circulating growth hormo... OMIM:615508
Tuberculosis
Weight loss ORPHA:3389
Good Syndrome
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Decreased... ORPHA:169105
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Fine hair, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Spa... OMIM:222700
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Splenomegaly, Micron... OMIM:606003
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Hypoplasia of penis, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidis... ORPHA:373
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis OMIM:252930
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Broad-based gait, Alopecia,... ORPHA:2959
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, E... ORPHA:199299
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Failure to thrive in infancy, Splenomegaly, Athetosis, Gait disturbance, As... ORPHA:834
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo... ORPHA:125
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Paroxysmal Cold Hemoglobinuria
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:90035
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Abnormal hair morphology, Weight loss, Abnormality of the nail, Abno... ORPHA:317
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Decreased liver function, Hepatomegaly OMIM:238970
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Joubert Syndrome 33
Splenomegaly OMIM:617767
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis... ORPHA:2331
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... OMIM:308300
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Autoimmunity, Skin rash, Gastritis, Splen... ORPHA:809
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Immunodeficiency, Common Variable, 10
Trachyonychia, Decreased response to growth hormone stimulation test, Alopecia totalis, Anti-thyr... OMIM:615577
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimm... ORPHA:90003
Huntington Disease-Like 2
Gait disturbance, Weight loss ORPHA:98934
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Parotitis, Acute pancreatitis, Orchitis, Splenomegaly, ... ORPHA:99827
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytos... OMIM:267700
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... OMIM:240300
Hawkinsinuria
Sparse hair, Failure to thrive, Hypothyroidism, Fine hair ORPHA:2118
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Increased circulating IgM level, Bone marrow hypocellular... ORPHA:505248
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Cryptorchidism, Increased... ORPHA:33364
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Slow-growing hair, Sparse eye... ORPHA:1896
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
Pediatric-Onset Graves Disease
Hepatomegaly, Autoimmunity, Puberty and gonadal disorders, Splenomegaly, Anti-thyroid peroxidase ... ORPHA:525731
Aredyld Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Type II diabetes mellitus, Type I diabetes mellitus, Sparse... ORPHA:1133
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Hypothyroidism, Syste... OMIM:607944
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Lymphadenopath... ORPHA:33226
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaund... OMIM:613471
Craniofrontonasal Dysplasia
Hypospadias, Abnormality of hair texture, Widow's peak, Low posterior hairline, Shawl scrotum, Ri... ORPHA:1520
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Idiopathic Achalasia
Weight loss ORPHA:930
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast... ORPHA:379
Trichothiodystrophy 1, Photosensitive
Brittle hair, Small for gestational age, Trichoschisis, Fine hair, Fragile nails, Hypogonadism, N... OMIM:601675
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse hair, Lymphopenia OMIM:619745
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen... OMIM:611881
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Autoimmunity, Impaired T cell function, Abnorma... ORPHA:567
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Broad eyebrow, Neutrophilia, Ataxia, Small for gestational age, Abnormal isohemaggl... ORPHA:99843
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism, Cachexia ORPHA:2574
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Zygomycosis
Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Mediastinal lymphadenopath... ORPHA:73263
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Abnormality of hair texture, Megaloblastic anemia, Athetosis, Hypogonadism, Failure to thrive ORPHA:79351
Systemic Capillary Leak Syndrome
Leukocytosis, Pancreatitis, Weight loss ORPHA:188
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Failure... OMIM:611590
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Thrombocytopenia OMIM:619980
Weaver Syndrome
Deep-set nails, Hypoplasia of penis, Abnormal fingernail morphology, Thin nail, Hypoplastic toena... ORPHA:3447
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Absent eyelashes, Cryptorchidism, Abnormal hair morphology, L... ORPHA:861
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, Lymphadenopathy, A... ORPHA:85450
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Fine hair, Premature graying of hair, Anemia, Bone marrow hypocellularity, Nail dysplasia... OMIM:612199
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Digeorge Syndrome
Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyroid hormone level, ... OMIM:188400
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Hypopigmentation of hair, Ataxia, Thrombocytopenia, ... ORPHA:167
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Abnormality of the... ORPHA:79329
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Conjunctivitis, Recurren... ORPHA:575
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypertension, Hypot... OMIM:619487
Giant Axonal Neuropathy
Unsteady gait, Abnormal pituitary gland morphology, Falls, Difficulty walking, Woolly hair, Pili ... ORPHA:643
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia ORPHA:67
Neuroblastoma, Susceptibility To, 1
Ataxia, Abdominal mass, Weight loss, Failure to thrive, Anemia OMIM:256700
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Anemia, Increased circulating antibody level, G... ORPHA:77261
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Takayasu Arteritis
Anemia, Weight loss ORPHA:3287
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Relapsing Fever
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste... OMIM:257220
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Uveitis, Lymphadenopathy, Arth... ORPHA:36412
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hypospadias, Large for gestational age, Cryptorchidism, Gait disturbance, Decreased c... ORPHA:457485
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Antinuclear antibody positivity, Cervical lymphadenopathy, Decreased mean plat... OMIM:617718
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Partial absence of specific antibody r... ORPHA:79324
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Loeffler Endocarditis
Left ventricular hypertrophy, Eosinophilia, Weight loss ORPHA:75566
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Cryptorchidism, Gait ataxia, Fine hair, Truncal ataxia, Sparse hair, H... OMIM:616817
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pelvic mass, Precocious puberty, Jaundice, Ovarian neoplasm, Weight los... ORPHA:370348
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, Decreased circulating antibody level,... ORPHA:51636
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Lichen Planopilaris
Hepatitis ORPHA:525
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Mccune-Albright Syndrome
Pancytopenia, Hepatocellular adenoma, Hepatitis, Cholestasis, Bone marrow hypocellularity, Pancre... ORPHA:562
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Tonne-Kalscheuer Syndrome
Broad-based gait, Hypospadias, Concave nail, Cryptorchidism, Fine hair, Small nail, Micropenis, D... OMIM:300978
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, D... ORPHA:83617
Noonan Syndrome 4
Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, High anterior hairline, Th... OMIM:610733
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... OMIM:300842
Al Amyloidosis
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Increased circulating a... ORPHA:85443
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Thick eyebrow, Fine hair OMIM:614800
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Leukocytosis, Weight loss, Thrombocytosis ORPHA:134
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Synophrys, Widow's peak, Obesity, Anemia, Coarse hair, Horizontal eyebrow, ... OMIM:620072
Gm1 Gangliosidosis
Ataxia, Splenomegaly, Unsteady gait, Hepatosplenomegaly, Weight loss, Abnormality of the scrotum,... ORPHA:354
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Lymphadenopathy... ORPHA:1333
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis OMIM:612387
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Fine hair, Long eyelashes, Labial hypoplasia, High anterior hairline ORPHA:231137
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Ataxia, Leukocytosis, Jaundice, Lipid accumulation in hepatocyt... ORPHA:20
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Hypertrichosis, Decreased cir... OMIM:210900
Psoriasis 14, Pustular
Nail dystrophy, Leukocytosis, Neutrophilia, Cholangitis OMIM:614204
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ataxia, Cachexia, Weight loss OMIM:613662
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
C3 Glomerulopathy
Autoimmunity, Paraproteinemia, Decreased circulating complement C3 concentration, C3 nephritic fa... ORPHA:329918
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomeg... OMIM:235200
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... OMIM:158310
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Weight loss, Failure to thrive, Cachexia, Gait ataxia OMIM:612075
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Hypothyroidism, D... ORPHA:1882
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormal hair mo... ORPHA:647
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Anemia, Incre... ORPHA:355
Juvenile Huntington Disease
Broad-based gait, Ataxia, Weight loss, Gait ataxia, Progressive cerebellar ataxia ORPHA:248111
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... OMIM:615512
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Splen... ORPHA:90051
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Autoimmunity, Weight loss ORPHA:704
Congenital Isolated Acth Deficiency
Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Say-Barber-Miller Syndrome
Abnormality of the hairline, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Transient hyp... ORPHA:3132
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Clubbing, Conductive hearing impairment, Abnormal sperm mot... ORPHA:244
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:50251
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Systemic lupus erythematosus, Increased circulating antibody level... ORPHA:48377
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance, Sea-blue histiocytosis, Failure to thrive OMIM:230600
Carvajal Syndrome
Woolly hair ORPHA:65282
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Ascites, Hepatomegaly ORPHA:2414
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Anemia ORPHA:52417
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Spleno... OMIM:181000
Addison Disease
Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular f... ORPHA:85138
Chops Syndrome
Curly hair, Thick hair, Splenomegaly, Synophrys, Cryptorchidism, Obesity, Coarse hair, Long eyela... OMIM:616368
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Diabetes mellitus, Small for gestational age, Synophrys, Low anterior hairline,... ORPHA:391408
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Trichothiodystrophy 6, Nonphotosensitive
Broad-based gait, Brittle hair, Small for gestational age, Slow-growing hair, Tiger tail banding OMIM:616943
Fraser Syndrome 2
Ambiguous genitalia, Hypoplasia of the thymus, Low anterior hairline OMIM:617666
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Jaberi-Elahi Syndrome
Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inability to walk, Dysmetria, G... OMIM:617988
Systemic Lupus Erythematosus
Hemolytic anemia, Alopecia, Antinuclear antibody positivity, Anti-La/SS-B antibody positivity, An... ORPHA:536
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Sulfite Oxidase Deficiency, Isolated
Choreoathetosis, Ataxia, Fine hair OMIM:272300
Acute Disseminated Encephalomyelitis
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Herpes simplex enc... ORPHA:83597
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Nail dystrophy, Nail dysplasia, Anemia OMIM:175500
Multiple Sulfatase Deficiency
Splenomegaly, Coarse hair, Thick eyebrow, Hepatomegaly ORPHA:585
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly OMIM:612852
Whipple Disease
Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Hypothyroidism, Anemia ORPHA:3452
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss ORPHA:729
Scrub Typhus
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis ORPHA:83317
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... ORPHA:30391
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Riddle Syndrome
Decreased circulating IgG level, Ataxia OMIM:611943
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Lysinuric Protein Intolerance
Hepatomegaly, Decreased response to growth hormone stimulation test, Antinuclear antibody positiv... ORPHA:470
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Varic... ORPHA:49041
Dyskeratosis Congenita
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Hepatomegaly, Alo... ORPHA:1775
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple... OMIM:613563
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Poikiloderma With Neutropenia
Sparse eyebrow, Splenomegaly, Low posterior hairline, Leukopenia, Nail dystrophy, Neutropenia, Sp... OMIM:604173
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Lysosomal Acid Lipase Deficiency
Failure to thrive, Adrenal calcification, Bone-marrow foam cells, Cachexia, Hypersplenism, Microv... ORPHA:275761
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Adrenal hypoplasia, Hypoplasia of the thymus, Ascites, Right ventricular hypert... OMIM:613177
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or ... ORPHA:217346
Adult-Onset Nemaline Myopathy
Paraproteinemia, Difficulty walking ORPHA:171442
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Antinuclear antibody positivity, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Gait disturbance, Autoimmunity, Weight loss ORPHA:183
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Splenomegaly, Abnormality of complement system, Generalized hirs... ORPHA:2348
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites, Weight loss ORPHA:2198
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy ORPHA:26790
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Meige Disease
Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of... ORPHA:90186
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma... OMIM:275000
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Fine hair, Anemia, Truncal obesity, Abnormality of female external genitalia,... ORPHA:2637
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph... OMIM:259700
Oculopharyngodistal Myopathy
Loss of ambulation, Difficulty walking, Weight loss ORPHA:98897
Monosomy 22
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Sparse hair,... ORPHA:96123
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Optic neuri... ORPHA:509
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Lassa Fever
Increased circulating IgM level ORPHA:99824
Papa Syndrome
Type I diabetes mellitus, Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Curly hair, Splenomegaly, Synophrys, Woolly hair, Coarse hair, Recurrent pancreatit... OMIM:618268
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Decreased body weight ORPHA:1672
Gm1-Gangliosidosis, Type I
Splenomegaly, Vacuolated lymphocytes, Hypertrichosis, Hepatomegaly OMIM:230500
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Albinism, Neutropenia OMIM:617050
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... OMIM:607625
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Ataxia, Hypothyroidism, Dysmetri... OMIM:212065
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Hypospadias, Abnormal fingernail morphology, Abnormality o... ORPHA:235
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Chylous ascites, Decreased circulating antibody l... ORPHA:90363
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight los... ORPHA:100075
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Staphylococcal Necrotizing Pneumonia
Diabetes mellitus, Neutrophilia, Leukocytosis, Leukopenia, Increased circulating procalcitonin co... ORPHA:36238
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Generalized hirsutism, Long eyelashes in irregular rows, ... ORPHA:2963
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Weight loss ORPHA:324964
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss ORPHA:2494
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Gait disturbance, Horizontal eyebrow, Fine hair OMIM:615828
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Hepatomegaly, Alopecia, Failure to thrive ORPHA:50812
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Recurrent pneumonia, Tubul... OMIM:203800
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Hypospadias, Small for gestational age, Sparse eyela... OMIM:264090
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt... ORPHA:3243
Caffey Disease
Increased circulating antibody level ORPHA:1310
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
2Q32Q33 Microdeletion Syndrome
Sparse hair, Decreased testicular size, Fine hair ORPHA:251019
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Somatostatinoma
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... ORPHA:97283
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Thick eyebrow, Splenomegaly, Synophrys, Coarse hair, Difficulty walking, Facial hir... OMIM:252940
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Vipoma
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... ORPHA:97282
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Uncombable hair... ORPHA:3082
Granulomatosis With Polyangiitis
Cytoplasmic antineutrophil antibody positivity, Granulomatosis, Perinuclear antineutrophil antibo... OMIM:608710
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Autoimmunity, Adrenal hypoplasia, Sparse... ORPHA:95409
Noonan Syndrome
Abnormal hair quantity, Hepatomegaly, Hypogonadotropic hypogonadism, Abnormality of the spleen, C... ORPHA:648
Viss Syndrome
Sparse scalp hair, Alopecia, Increased circulating IgE level, Hypereosinophilia, Decreased circul... OMIM:619472
Spinocerebellar Ataxia 48
Cachexia, Ataxia, Dysmetria, Gait ataxia OMIM:618093
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Cachexia, Thin eyebrow, ... ORPHA:3242
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Elevated gamma-glutamyltr... OMIM:608885
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Fg Syndrome 3
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair OMIM:300406
Noonan Syndrome 5
Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, Small nail OMIM:611553
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi... ORPHA:264580
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Huntington Disease
Inability to walk, Weight loss, Gait disturbance, Gait imbalance, Difficulty walking, Decreased b... ORPHA:399
Noonan Syndrome 8
Curly hair, Large for gestational age, Cryptorchidism, Left ventricular hypertrophy, Failure to t... OMIM:615355
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Hennekam Syndrome
Sparse axillary hair, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circul... ORPHA:2136
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Low posterior hairline, ... ORPHA:163654
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Chronic Hiccup
Weight loss ORPHA:396
Trichinellosis
Increased circulating IgE level ORPHA:863
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Leukopenia, Hypogonadism, Delayed pu... ORPHA:1328
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin rash, Hepatitis ORPHA:1334
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... OMIM:262000
Sarcoidosis
Increased T cell count, Leukopenia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Hyperthyroidi... ORPHA:797
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Ataxia, Increased circulating IgA level, Peritonitis, Lymphadenopathy ORPHA:343
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Mucolipidosis Type Ii
Dry hair, Inability to walk, Splenomegaly, White hair, Weight loss, Hepatosplenomegaly, Fine hair... ORPHA:576
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... ORPHA:464329
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Anemia ORPHA:667
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... ORPHA:97280
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Hyperinsulinemia, Failure to thrive, Hepatic steatosis, Hirsutism, De... OMIM:613327
Toxic Epidermal Necrolysis
Weight loss, Anemia, Neutropenia, Abnormal vagina morphology, Pancreatitis, Thrombocytopenia ORPHA:537
Complete Androgen Insensitivity Syndrome
Male infertility, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair, Bilateral cryptor... ORPHA:99429
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Weight loss, ... ORPHA:1332
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Christianson Syndrome
Thick eyebrow, Truncal ataxia, Cachexia, Gait ataxia ORPHA:85278
Anaplastic Thyroid Carcinoma
Weight loss, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair, Thrombocytopenia OMIM:612394
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h... ORPHA:75389
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Coarse hair, Failure to thrive, Abnormality of hair texture OMIM:219200
Mcdonough Syndrome
Cryptorchidism, Synophrys, Cachexia ORPHA:2471
Isaacs Syndrome
Weight loss ORPHA:84142
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone... OMIM:239200
Riboflavin Transporter Deficiency
Cachexia, Hypogonadism, Diabetes insipidus, Ataxia ORPHA:97229
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Low posterior hair... OMIM:115150
Rapp-Hodgkin Syndrome
Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... OMIM:129400
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Hypospadias, Ataxia, Fine hair OMIM:619428
Congenital Muscular Dystrophy Due To Lmna Mutation
Gait disturbance, Cachexia ORPHA:157973
Lymphoid Interstitial Pneumonia
Hepatomegaly, Autoimmunity, Mediastinal lymphadenopathy, Autoimmune antibody positivity, Weight l... ORPHA:79128
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
Flynn-Aird Syndrome
Alopecia, Ataxia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type... ORPHA:2047
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis OMIM:249100
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Weight loss, Increased circulating IgG level, Normochromic anemia, Increased c... ORPHA:91500
Huntington Disease-Like 1
Weight loss, Gait disturbance, Dysmetria, Gait ataxia ORPHA:157941
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... OMIM:619418
Isolated Succinate-Coq Reductase Deficiency
Loss of ambulation, Left ventricular hypertrophy, Ataxia, Weight loss ORPHA:3208
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Scheie Syndrome
Splenomegaly, Rhinitis, Hepatomegaly ORPHA:93474
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... ORPHA:32960
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... ORPHA:728
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... OMIM:618131
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphade... ORPHA:99826
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... ORPHA:65682
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Splenomegaly, Hirsutism, Coarse hair, Thick eyebrow OMIM:253220
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy OMIM:616028
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Riddle Syndrome
Generalized lymphadenopathy, Ataxia, Weight loss, Decreased circulating total IgM, Gait disturban... ORPHA:420741
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... ORPHA:699
Renal Nutcracker Syndrome
Vulval varicose vein, Varicocele, Anemia, Weight loss ORPHA:71273
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure ORPHA:415
Rat-Bite Fever
Abdominal aseptic abscess, Lymphadenitis, Weight loss, Anemia, Pancreatitis, Parotitis ORPHA:31205
Huntington Disease-Like 2
Weight loss OMIM:606438
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Failure to thrive in infancy, Concave nail, Hypop... ORPHA:3071
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Broad-based gait, Coarse hair, Synophrys OMIM:616351
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow OMIM:617392
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron con... OMIM:619991
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Pancreatitis, Anemia ORPHA:36426
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Weight loss, Long eyelashes, Neutropenia ORPHA:79430
Alexander Disease Type I
Failure to thrive, Ataxia, Cachexia ORPHA:363717
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Failure to thrive, Ataxia, Gait disturbance OMIM:300986
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Pulmonary lymphangiectas... ORPHA:1655
Mucopolysaccharidosis Type 3
Hepatomegaly, Ataxia, Thick hair, Adenoiditis, Cardiomegaly, Splenomegaly, Synophrys, Recurrent t... ORPHA:581
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelash... OMIM:263700
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Brittle hair, Small for gestational age, Hypospadias, Failure to thrive in infa... OMIM:618891
Ritscher-Schinzel Syndrome 4
Curly hair, Ataxia, Cryptorchidism, Athetosis, Micropenis OMIM:619435
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Abnormal morphology of female internal genitalia, Fine hair ORPHA:1839
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism ORPHA:228390
Attrv30M Amyloidosis
Weight loss, Cardiomegaly ORPHA:85447
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Type I diabetes mellitus ORPHA:1979
Cockayne Syndrome A
Hepatomegaly, Dry hair, Ataxia, Splenomegaly, Cryptorchidism, Thymic hormone decreased, Hypogonad... OMIM:216400
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Leukemia OMIM:605275
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small scrotum, Hypospadias, Small for gestational age, Cryptorchidism, Decreas... OMIM:607143
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Finger clinodactyly, Azoospermia, Low-set ears... ORPHA:8
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Cockayne Syndrome B
Hepatomegaly, Dry hair, Ataxia, Small for gestational age, Abnormal hair morphology, Splenomegaly... OMIM:133540
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout... OMIM:232220
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron deficiency anemia, Small intestine c... ORPHA:100078
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... ORPHA:90041
Bullous Pemphigoid
Diabetes mellitus, Autoimmunity, Weight loss ORPHA:703
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Erdheim-Chester Disease
Ataxia, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Weight loss, Diabetes insipidus,... ORPHA:35687
Cardiofaciocutaneous Syndrome 3
Curly hair, Failure to thrive OMIM:615279
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunct... OMIM:253260
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:230900
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair, Steppage gait OMIM:256850
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... ORPHA:309854
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Hall-Riggs Syndrome
Coarse hair, Failure to thrive, Slow-growing hair, Thick hair ORPHA:2107
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Ful... ORPHA:319213
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Acrogeria
Fine hair ORPHA:2500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Splenomegaly, Defective production of NFKB1-dependent cytokines,... OMIM:612132
Fetal Hydantoin Syndrome
Bifid scrotum, Cryptorchidism, Low posterior hairline, Coarse hair, Hypoplastic fingernail ORPHA:1912
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Highly arched eyeb... ORPHA:572333
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity ORPHA:1745
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Tip-toe gait, Sparse hair... OMIM:252500
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the liver, Failure to thrive, Abnormality of hair texture, Hepatocellular carcinoma ORPHA:88618
Koolen-De Vries Syndrome
Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptorchidism, Hypothyroidism ORPHA:96169
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent to... ORPHA:171876
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Obesity, Fine hair OMIM:620250
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Broad-based gait, Highly arched eyebrow, Large for gestational age, Gait ataxia, Ac... OMIM:280000
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Lymphadenopathy ORPHA:411703
Myotonic Dystrophy 2
Frontal balding, Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Elevated circula... OMIM:602668
Trisomy 20P
Hypospadias, Thick hair, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Low poster... ORPHA:261318
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Failure to thrive in infancy, Cachexia OMIM:616801
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Sparse eyebrow, Fine hair, Gait disturbance, Hypogonadism, Long eyelashes, ... ORPHA:261349
Cirrhosis, Familial
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites OMIM:215600
Acute Liver Failure
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... ORPHA:90062
Dubowitz Syndrome
Sparse scalp hair, Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblastic leukemia, De... OMIM:223370
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Brittle hair, Sparse eyebrow, Hydrocele testis, Micropenis OMIM:618810
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Rheumatoid Arthritis
Anti-citrullinated protein antibody positivity, Rheumatoid factor positive, Rheumatoid arthritis,... OMIM:180300
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Polymyositis
Hepatomegaly, Gait disturbance, Autoimmunity, Weight loss ORPHA:732
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Abnormal fingernail morphology, Splenomegaly, Synophrys, Low anterior ... ORPHA:955
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Broad-based gait, Cachexia, Abnormality of the spleen, Splenomegaly, Limb ataxia, H... ORPHA:2072
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Fine hair, Aplastic/hypoplastic toenai... ORPHA:1812
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Congenital hypothyroidism, Decreased circulating IgG level, Neutropenia OMIM:271510
Nephroblastoma
Neoplasm of the liver, Weight loss, Lymphadenopathy ORPHA:654
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Ogden Syndrome
Cryptorchidism, Shuffling gait, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Koolen-De Vries Syndrome
Failure to thrive, Small for gestational age, Abnormality of hair texture, Cryptorchidism, Fair hair OMIM:610443
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Inflammatory abnormality of ... ORPHA:565612
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Tip-toe gait, Gait disturbance, Weight loss ORPHA:216866
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow OMIM:619244
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ataxia, Cachexia, Cardiomegaly, Hepatic steatosis ORPHA:42
Noonan Syndrome 7
Curly hair, Low posterior hairline, Large for gestational age OMIM:613706
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure... OMIM:276700
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Failure to thrive, Hepatic steatosis, Pancreatitis OMIM:236200
Cardiofaciocutaneous Syndrome
Brittle hair, Failure to thrive in infancy, Slow-growing hair, Abnormal eyelash morphology, Crypt... ORPHA:1340
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Systemic lupus erythemato... ORPHA:77293
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Autoimmune antibo... ORPHA:424
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... ORPHA:731
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Hypospadias, Fine hair ORPHA:363686
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Abnormal preputium morphology, Thrombocy... ORPHA:84
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Generalized hirsutism, Cachexia ORPHA:1933
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthrit... ORPHA:342
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Dermatomyositis
Abnormal hair quantity, Abnormal eosinophil morphology, Autoimmunity, Weight loss, Abnormality of... ORPHA:221
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, External genital hypoplasia, Cryptorchidism, Fine hair, Sparse hair, Micropenis... ORPHA:251028
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Ascites, Aplasia/Hypoplasi... OMIM:614091
Leopard Syndrome 3
Curly hair, Low posterior hairline OMIM:613707
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Granulomatosis With Polyangiitis
Diabetes insipidus, Autoimmunity, Weight loss, Granulomatosis, Abnormality of the hypothalamus-pi... ORPHA:900
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Cockayne Syndrome
Hepatomegaly, Dry hair, Diabetes mellitus, Ataxia, Cachexia, Splenomegaly, Cryptorchidism, Inabil... ORPHA:191
Familial Tumoral Calcinosis
Splenomegaly, Skin rash, Hepatomegaly ORPHA:53715
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Leopard Syndrome 2
Curly hair OMIM:611554
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Giant Cell Arteritis
Alopecia, Ataxia, Mediastinal lymphadenopathy, Weight loss, Diabetes insipidus ORPHA:397
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Scarring al... ORPHA:79277
Noonan Syndrome 9
Sparse eyebrow, Cryptorchidism, Curly hair OMIM:616559
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Vaginal neoplasm, Pelvic mass, Weight loss, Neoplasm of the liver... ORPHA:2126
Turner Syndrome Due To Structural X Chromosome Anomalies
Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, Alopecia, Prem... ORPHA:99413
Mosaic Monosomy X
Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, Alopecia, Prem... ORPHA:99228
Monosomy X
Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, Alopecia, Prem... ORPHA:99226
Turner Syndrome
Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of toe joints, Alopecia, Prem... ORPHA:881
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding OMIM:616390
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... OMIM:301068
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... ORPHA:100080
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Cachexia ORPHA:884
Grfoma
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... ORPHA:97261
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Ataxia, Abnormal fingernail morphology, Slow-growing hair, Fine hair, G... ORPHA:2710
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Weight loss ORPHA:94080
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Micropenis, Thor... OMIM:619503
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Broad-based gait, Cachexia, Abnormal hair pattern, Synophrys, Obesity, Hypog... ORPHA:85293
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia OMIM:615821
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss ORPHA:99978
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly ORPHA:3384
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Hepatic fibrosis, Failure to thrive, Trichorrhexis ... OMIM:207900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa... OMIM:617506
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Ataxia, Splenomegaly, Premat... ORPHA:163746
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline OMIM:617360
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair ORPHA:1028
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Autoimmune antibody positivity, Activating t... ORPHA:99819
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Abdomina... ORPHA:2108
Encephalitis Lethargica
Increased circulating antibody level, Autoimmunity ORPHA:83600
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Premature ... ORPHA:90794
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Cockayne Syndrome Type 3
Hepatomegaly, Dry hair, Splenomegaly, Unsteady gait, Premature graying of hair, Difficulty walking ORPHA:90324
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Hypoplastic ... ORPHA:978
Behçet Disease
Ataxia, Orchitis, Splenomegaly, Lymphadenopathy, Weight loss, Gait disturbance, Pancreatitis ORPHA:117
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Spastic gait, Fine hair ORPHA:3079
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis... OMIM:620186
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre... OMIM:613070
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency ORPHA:309031
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance ORPHA:702
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... ORPHA:813
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair, Failure to thrive OMIM:605676
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Atypical pulmonary carcinoid tu... ORPHA:100082
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Coarse hair, Hypospadias, Abnormal hair pattern ORPHA:1786
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Cryptorchidism, Athetosis, Fine hair OMIM:614438
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Weight loss, Goiter OMIM:188580
Short Syndrome
Sparse hair, Alopecia, Diabetes mellitus, Weight loss ORPHA:3163
Hallermann-Streiff Syndrome
Sparse scalp hair, Small for gestational age, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, F... OMIM:234100
Chime Syndrome
Sparse hair, Fine hair, Acute leukemia ORPHA:3474
Perry Syndrome
Short stepped shuffling gait, Akinesia, Weight loss OMIM:168605
Ogden Syndrome
Maternal diabetes, Cardiomegaly, Sparse eyebrow, Cryptorchidism, Jaundice, Microvesicular hepatic... OMIM:300855
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... ORPHA:90797
African Trypanosomiasis
Hepatomegaly, Alopecia, Akinesia, Abnormality of the endocrine system, Splenomegaly, Jaundice, He... ORPHA:3385
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Cardiome... ORPHA:75565
Occipital Horn Syndrome
Esophagitis, Jaundice, Hepatitis, Cholestasis ORPHA:198
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:440437
Craniofrontonasal Syndrome
Ridged nail, Split nail, Curly hair, Hypospadias, Cryptorchidism, Widow's peak, Low posterior hai... OMIM:304110
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Splenomegaly, ... OMIM:269700
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... ORPHA:97278
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Freckled genitalia, Anemia ORPHA:79076
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Hyperparathyroidism, Cryptorchidism, Thrombocytopenia, Fine hair, Azoospermia,... ORPHA:534
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Sparse hair OMIM:608612
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Weight loss, Ridged fingernail, F... ORPHA:37
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Abnorma... ORPHA:3353
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:144
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair OMIM:257850
Naxos Disease
Subungual hyperkeratosis, Curly hair, Cardiomegaly, Sparse eyebrow, Onycholysis, Nail dystrophy, ... OMIM:601214
Perry Syndrome
Weight loss ORPHA:178509
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Sparse medial eyebrow, Cryptorchidism, Low anterior ... OMIM:601358
Cystinosis, Nephropathic
Hepatomegaly, Hypopigmentation of hair, Diabetes mellitus, Failure to thrive in infancy, Splenome... OMIM:219800
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Failure to thriv... OMIM:163950
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt... OMIM:227650
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Secondary Short Bowel Syndrome
Cholestasis, Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive ORPHA:95427
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... OMIM:167210
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/Hypoplastia ... OMIM:305100
Malignant Peritoneal Mesothelioma
Peritonitis, Ascites, Weight loss ORPHA:168811
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Cachexia ORPHA:2774
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Ataxia, Highly arched eyebrow, Synophrys, Decreased circulating ... OMIM:617062
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Sparse hair, Coarse hair, Failure to thrive, Thick hair ORPHA:357074
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... OMIM:241080
Weaver Syndrome
Deep-set nails, Thin nail, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair OMIM:277590
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Focal Myositis
Weight loss ORPHA:48918
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Large for gestational age, Cryptorchidism, Loose anagen hair, Long... OMIM:607721
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Hemolytic anemia, Scarring alopecia of scalp, Splenomegaly, Loss of eyelas... ORPHA:95159
Genitopatellar Syndrome
Sparse scalp hair, Small scrotum, Cryptorchidism, Fine hair, Clitoral hypertrophy ORPHA:85201
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... ORPHA:90340
Juvenile Amyotrophic Lateral Sclerosis
Ataxia, Cachexia, Inability to walk, Tip-toe gait, Difficulty walking ORPHA:300605
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Labial... OMIM:608594
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Decreas... OMIM:602535
Adrenomyeloneuropathy
Frontal balding, Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Fine hair, Ad... ORPHA:139399
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Vaginal neoplasm, Weight loss, Smooth muscle antibody positivity, Abnormality ... ORPHA:1018
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Absent hair OMIM:614940
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Galloway-Mowat Syndrome 9
Choreoathetosis, Coarse hair OMIM:619603
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ataxia, Neonatal insulin-dependent diabetes mellitus, Autoimmune antibody posi... ORPHA:99885
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Congenital Analbuminemia
Small for gestational age, Increased circulating antibody level, Obesity ORPHA:86816
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Ataxia, Precocious puberty, Low anterior hairline, Tip-toe gait, Long eyelashes, Hori... OMIM:619950
Distal Deletion 12Q
Diabetes mellitus, Unilateral cryptorchidism, Failure to thrive in infancy, Maturity-onset diabet... ORPHA:96149
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Cerebellar-Facial-Dental Syndrome
Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair, Failure to thrive ORPHA:444072
8P23.1 Microdeletion Syndrome
Cryptorchidism, Hypospadias, Obesity, Weight loss ORPHA:251071
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Hypospadias OMIM:619184
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Osteosarcoma
Weight loss ORPHA:668
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Glossopharyngeal Neuralgia
Autoimmunity, Weight loss ORPHA:221098
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Progressive gait ataxia, Increased circulating antibody level, Limb ataxia, Gait ataxia OMIM:606002
Nocardiosis
Brain abscess, Liver abscess, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss, Abnormality o... ORPHA:31204
Scleromyxedema
Paraproteinemia, Abnormality of thyroid physiology ORPHA:167635
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Cytoplasmic antineutrophil antibody positi... OMIM:233450
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Lateral Meningocele Syndrome
Cryptorchidism, Coarse hair OMIM:130720
Rett Syndrome
Gait apraxia, Truncal ataxia, Cachexia, Gait ataxia OMIM:312750
Fontaine Progeroid Syndrome
Sparse scalp hair, Small scrotum, Absent nipple, Small for gestational age, Cryptorchidism, Synop... OMIM:612289
Polyarteritis Nodosa
Weight loss ORPHA:767
Opitz-Kaveggia Syndrome
Hypospadias, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair OMIM:305450
Fatal Familial Insomnia
Ataxia, Weight loss OMIM:600072
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Hypospadias, Decreased response to growth hormone stimulation test, Abnormal fingerna... ORPHA:444077
Choreoacanthocytosis
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss, Falls... ORPHA:2388
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... ORPHA:744
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... ORPHA:251510
Oculodentodigital Dysplasia
Dry hair, Ataxia, Slow-growing hair, Fine hair, Sparse hair, Fragile nails OMIM:164200
Gerstmann-Straussler Disease
Weight loss, Truncal ataxia, Limb ataxia, Gait ataxia OMIM:137440
Chronic Graft Versus Host Disease
Pancytopenia, Alopecia, Phimosis, Abnormal vagina morphology, Weight loss, Onycholysis, Nail dyst... ORPHA:99921
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Ataxia, Pancreatic cysts, Abnormality of the pancreas, Coarse hair, Spars... ORPHA:2750
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... ORPHA:276621
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Weight loss, Progressive gait ataxia OMIM:607459
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
X-Linked Creatine Transporter Deficiency
Athetosis, Ataxia, Cachexia ORPHA:52503
Cap Polyposis
Weight loss ORPHA:160148
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Weight loss ORPHA:92050
Juvenile Dermatomyositis
Alopecia, Autoimmunity, Weight loss ORPHA:93672
Ciliary Dyskinesia, Primary, 1
Male infertility, Conductive hearing impairment OMIM:244400
Craniolenticulosutural Dysplasia
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair OMIM:607812
Pancreatoblastoma
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Noonan Syndrome 10
Left ventricular hypertrophy, Cryptorchidism, Curly hair, Sparse eyebrow OMIM:616564
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse h... ORPHA:920
Yao Syndrome
Weight loss OMIM:617321
Cerebellofaciodental Syndrome
Sparse eyebrow, Cryptorchidism, Fine hair OMIM:616202
Orofaciodigital Syndrome I
Dry hair, Alopecia, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Sparse hair, Hepatic cysts OMIM:311200
45,X/46,Xy Mixed Gonadal Dysgenesis
Hallux valgus, Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryp... ORPHA:1772
Liposarcoma
Weight loss ORPHA:69078
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair OMIM:614099
Myhre Syndrome
Small for gestational age, Ataxia, Cryptorchidism, Obesity, Fine hair, Sparse hair, Thick eyebrow OMIM:139210
Aapoaiv Amyloidosis
Diabetes mellitus, Paraproteinemia ORPHA:439232
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Septate vagina, Uterus d... ORPHA:2237
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Autoimmune Pulmonary Alveolar Proteinosis
Autoimmune antibody positivity, Weight loss ORPHA:747
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, Shawl scrotum ORPHA:1974
Cranioectodermal Dysplasia 1
Hepatomegaly, Slow-growing hair, Thin nail, Malformation of the hepatic ductal plate, Short nail,... OMIM:218330
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... ORPHA:29072
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu... ORPHA:85410
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Hypothyroidism, Low anterior hairline OMIM:618569
Oromandibular Dystonia
Weight loss ORPHA:93958
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Long eyelashes in irregular rows, Cachexia, Low anterior hairline, G... ORPHA:800
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... OMIM:181270
Alström Syndrome
Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Portal hypertension, Splenomegal... ORPHA:64
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Failure to thrive, Lymphangiect... OMIM:218040
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Cachexia, Thyroid carcinoma, Hashimoto thyroiditis, Uterine neoplasm ORPHA:109
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Ataxia, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Periportal fibr... OMIM:124000
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Curly hair, Failure to thrive in infancy, Sparse eyebrow, Secretory IgA defic... ORPHA:500150
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:143
Progeroid Short Stature With Pigmented Nevi
Diabetes mellitus, Small for gestational age, Hypospadias, Impaired T cell function, Chordee, Del... OMIM:176690
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia, Weight loss ORPHA:411602
Coffin-Siris Syndrome 1
Sparse scalp hair, Thick eyebrow, Dry hair, Hypospadias, Cryptorchidism, Hypoplastic fifth finger... OMIM:135900
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Impaired T cell function OMIM:192430
Melnick-Needles Syndrome
Coarse hair, Failure to thrive, Gait disturbance, Frontal hirsutism OMIM:309350
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Zttk Syndrome
Absent gallbladder, Curly hair, Sparse eyebrow, Failure to thrive, Broad eyebrow OMIM:617140
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Cysticercosis
Increased circulating antibody level, Ataxia ORPHA:1560
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Prolonged neonata... OMIM:210710
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Loss of eyelashes,... ORPHA:740
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair, Prolonged neonatal jaundice ORPHA:565
Trisomy 18
Cryptorchidism, Abnormal toenail morphology, Abnormal morphology of female internal genitalia, Ca... ORPHA:3380
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Patchy alop... OMIM:305600
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Hypospadias, Decreased response to growth hormone stimulation test... OMIM:613406
Xfe Progeroid Syndrome
Failure to thrive, Ascites, Cachexia OMIM:610965
Chand Syndrome
Curly hair, Ataxia, Imperforate hymen, Nail dysplasia ORPHA:1401
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Renpenning Syndrome 1
Brittle hair, Hypospadias, Phimosis, Sparse hair, Decreased testicular size, Sparse lateral eyebrow OMIM:309500
Coffin-Lowry Syndrome
Highly arched eyebrow, Hyperconvex fingernails, Coarse hair, Decreased body weight, Uterine prola... OMIM:303600
Oculopharyngodistal Myopathy 1
Ataxia, Difficulty walking, Weight loss OMIM:164310
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture ORPHA:73223
Pulmonary Alveolar Microlithiasis
Gonadal calcification, Hepatomegaly, Testicular microlithiasis, Weight loss ORPHA:60025
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia ORPHA:220295
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Occipital Horn Syndrome
Coarse hair, Pili torti OMIM:304150
Seckel Syndrome
Sparse scalp hair, Cachexia ORPHA:808
Reactive Arthritis
Dystrophic fingernails, Abnormality of the nail, Weight loss ORPHA:29207
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concentration, H... ORPHA:480880
Vascular Ehlers-Danlos Syndrome
Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, ... ORPHA:286
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... OMIM:619539
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy OMIM:614748
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Cystic Fibrosis
Male infertility, Clubbing of fingers OMIM:219700
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Cachexia ORPHA:1969
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Delayed puberty, Failure to thrive ORPHA:649

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 Il2rb

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 Il2rb.

No publications found that use IMPC mice or data for Il2rb.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Il2rbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Il2rbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Il2rbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Il2rbtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Il2rbtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il2rbtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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