Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Bach2 MGI:894679

Gene Summary

Name:

BTB and CNC homology, basic leucine zipper transcription factor 2

Synonyms:

E030004N02Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased effector memory CD8-positive, alpha-beta T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.01×10^-05
decreased B cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.53×10^-11
increased macrophage cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased memory-marker CD4-negative NK T cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.16×10^-05
abnormal bone structure	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.78×10^-05
abnormal optic disk morphology	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.84×10^-08
decreased bone mineral density	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.95×10^-06
increased KLRG1-positive gamma-delta T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased NK T cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.91×10^-07
increased eosinophil cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased monocyte cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased CD8-positive, naive alpha-beta T cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.64×10^-08
increased memory-marker CD4-negative NK T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased marginal zone B cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.79×10^-08
increased effector memory T-helper cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased CD8-positive, alpha-beta memory T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
short tibia	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.96×10^-05
increased CD11b-low dendritic cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
limb grasping	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.02×10^-11
decreased B cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased Ly6C-positive mature NK cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.12×10^-06
increased KLRG1+ CD8 alpha-beta T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased KLRG1+ CD4 alpha-beta T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased circulating creatinine level	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.28×10^-05
decreased food intake	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.60×10^-14
immune system phenotype	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.09×10^-09
decreased bone mineral density	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.12×10^-07
increased NK cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased KLRG1-positive NK cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased CD8-positive, naive alpha-beta T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased memory-marker NK cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased B-1a cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.10×10^-05
decreased regulatory T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased CD4-positive, alpha-beta memory T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased B-2 B cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.22×10^-11
increased effector memory CD8-positive, alpha-beta T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased CD4-negative NK T cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.44×10^-09
increased circulating amylase level	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.16×10^-07
decreased Ly6C-positive immature NK cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.13×10^-06
increased circulating aspartate transaminase level	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.59×10^-06
decreased NK cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.50×10^-05
decreased follicular B cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased immature B cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased mature B cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
thrombocytosis	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.46×10^-06
increased CD103-positive CD11b-low dendritic cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating unsaturated transferrin level	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.45×10^-09
decreased vertical activity	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.14×10^-09
decreased circulating creatinine level	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	8.56×10^-05
increased NK T cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.79×10^-08
decreased CD11b-high dendritic cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased CD11b-high dendritic cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.84×10^-05
increased effector memory CD8-positive, alpha-beta T cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.54×10^-08
hyperactivity	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.88×10^-06
increased KLRG1-positive CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased Ly6C low monocyte number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased KLRG1-positive CD4-negative NK T cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased follicular B cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.68×10^-10
decreased respiratory quotient	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.69×10^-16
increased granulocyte number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.27×10^-11
increased memory-marker NK cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased exploration in new environment	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.38×10^-08
increased grip strength	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	6.03×10^-07
decreased circulating glucose level	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.91×10^-07
decreased transitional stage B cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.86×10^-05
increased pulmonary respiratory rate	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.11×10^-15
increased neutrophil cell number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased prepulse inhibition	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.04×10^-08
increased eosinophil cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.18×10^-11
increased memory-marker CD4-negative NK T cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.36×10^-11
increased circulating iron level	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.88×10^-06
increased monocyte cell number	Bach2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.74×10^-12
increased Ly6C high monocyte number	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased bone mineral content	Bach2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.82×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

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.

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

View images

DSS Histology

Images

8 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

View images

X-ray

XRay Images Skull Lateral Orientation

14 Images

View images

Anti-nuclear antibody assay

Images

6 Images

View images

X-ray

XRay Images Forepaw

15 Images

View images

Eye Morphology

Images Ophthalmoscopy

6 Images

View images

Eye Morphology

Images Slit Lamp

1 Images

View images

Ear epidermis immunophenotyping

Images

47 Images

View images

Legacy Phenotype Associated Images

Bach2^{tm1a(EUCOMM)Wtsi}
WT, Male, WTSI

View all 86 images

Bach2^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Female, WTSI

Bach2^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Male, WTSI

Bach2^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Female, WTSI

Bach2^{tm1a(EUCOMM)Wtsi}
abnormal retinal vasculature morphology, HOM, Female, WTSI

View all 7 images

Human diseases caused by Bach2 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.

Human diseases associated with Bach2 (1 diseases)
Human diseases predicted to be associated with Bach2 (1124 diseases)

The table below shows human diseases associated to Bach2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency 60 And Autoimmunity		Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394

The table below shows human diseases predicted to be associated to Bach2 by phenotypic similarity.

Disease	Matching phenotypes	Source
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c...	OMIM:615513
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:608106
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility	ORPHA:2582
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Immunodeficiency 102	Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti...	OMIM:301082
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency 88	Eosinophilia	OMIM:619630
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig...	OMIM:616005
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:601859
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre...	OMIM:619510
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod...	ORPHA:397596
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lymphopenia, Autoimmune hemolytic ane...	ORPHA:331206
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteomyelitis, Hypoalbuminemia, Thromb...	OMIM:209950
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ...	ORPHA:486
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ...	ORPHA:98813
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D...	ORPHA:169160
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:603909
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati...	OMIM:615285
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Ceroid Lipofuscinosis, Neuronal, 9	Psychomotor deterioration, Ataxia, Vacuolated lymphocytes, Optic atrophy, Loss of ambulation, Rod...	OMIM:609055
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle...	OMIM:604416
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ...	ORPHA:276
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent fractures, Eosinophilia, Craniosynostosis, Joint hypermobility, Cutaneous a...	OMIM:147060
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin...	OMIM:241600
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Flexion contracture, Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level	OMIM:193670
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Eosinophilia, Craniosynostosis	OMIM:618523
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
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
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count	OMIM:609981
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive...	ORPHA:36238
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Immunodeficiency 22	Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ...	OMIM:615758
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ...	OMIM:613101
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Immunodeficiency 68	Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count	OMIM:612260
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level	OMIM:152800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level	OMIM:616740
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Eosinophilic Fasciitis	Arthritis, Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating...	ORPHA:83313
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:2902
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Hepatomegaly, Severe B lymphocytopenia, Lymphopenia, Aplasia o...	OMIM:102700
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ...	OMIM:242860
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Wells Syndrome	Eosinophilia	ORPHA:901
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad...	OMIM:618048
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Joint stiffness, Leukopenia, Thrombocytosi...	OMIM:615934
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel...	ORPHA:90362
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec...	OMIM:301045
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c...	OMIM:620210
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Roifman Syndrome	Hip contracture, Delayed proximal femoral epiphyseal ossification, Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Delayed ossification of carpal bones, Eosinophilia	OMIM:617425
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess...	OMIM:618282
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas...	OMIM:604250
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ...	ORPHA:33355
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ...	OMIM:300755
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Pgm3-Cdg	Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor...	ORPHA:443811
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Roifman Syndrome	Hip contracture, Splenomegaly, Eosinophilia	OMIM:616651
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	ORPHA:158048
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia	ORPHA:134
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N...	OMIM:304790
Propionic Acidemia	Hepatomegaly, Pancytopenia, Dystonia, Apnea, Hypoglycemia, Tachypnea, Osteoporosis, Hyperglycinur...	OMIM:606054
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia	OMIM:619851
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia	OMIM:617056
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco...	OMIM:608184
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
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
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia, Joint hypermobility	OMIM:615816
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Neonatal respiratory distress, Ataxia, Optic nerve hypoplasia, Abnormal T cell subset...	ORPHA:221139
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve...	OMIM:619374
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop...	ORPHA:444463
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat...	OMIM:615122
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly	OMIM:619126
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Cough, Dyspnea, Asthma, Chronic pulmonary obst...	ORPHA:1163
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Recurrent fractures, Eosinophilia, Craniosynostosis, Joint hyperflexib...	ORPHA:2314
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,...	OMIM:300972
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Hyperlysinuria, Cognitive impairment, Hyperlysinemia, Anemia	OMIM:238700
Griscelli Syndrome, Type 2	Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia	ORPHA:20
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Micrognathia, Tachypnea, Hyperhomocystinemia, Pulmonar...	OMIM:614857
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha...	OMIM:603552
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Ceroid Lipofuscinosis, Neuronal, 1	Psychomotor deterioration, Ataxia, Vacuolated lymphocytes, Optic atrophy, Flexion contracture, De...	OMIM:256730
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane...	OMIM:612301
Immunodeficiency, Common Variable, 6	Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n...	OMIM:613496
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I...	OMIM:620040
Igg4-Related Aortitis	Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449400
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Anorexia, Tachypnea, Hyperammonemia, Irritability, Lethargy, Thromb...	ORPHA:79242
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Cystic Echinococcosis	Eosinophilia, Abscess, Bone cyst, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess	ORPHA:400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Opisthotonus, T lymphocytopenia, Narrow greater sciatic not...	ORPHA:508533
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Hyperalaninemia, Optic disc pallor, Ataxia, Elevated circulating acylcarnitine concentration, Tac...	OMIM:615838
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph...	ORPHA:507
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro...	OMIM:617388
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia	OMIM:266130
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Hypocalcemia, Thrombocytosis	OMIM:212750
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut...	OMIM:601495
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Eosinophilia, Hypercalcemia, Hyperkalemia, Hy...	ORPHA:199299
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level	ORPHA:1296
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy...	OMIM:208900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Dystonia, Anorexia, Splenomegaly, Optic atrophy, Hyperammonem...	ORPHA:79312
Ceroid Lipofuscinosis, Neuronal, 3	Psychomotor deterioration, Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Dementia,...	OMIM:204200
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Confusion, Lympha...	ORPHA:449427
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Thrombocytosis, Polycyth...	ORPHA:2905
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Hypoglycemia, Progressive neurologic deterioration, Optic atrophy, Bronchiectasis, Hyperam...	OMIM:618253
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia	ORPHA:543
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Decrease...	OMIM:613385
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine...	OMIM:620366
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Mogs-Cdg	Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot...	ORPHA:79330
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab...	ORPHA:572
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp...	ORPHA:3260
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Hyperactivity, At...	OMIM:615673
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Thrombo...	ORPHA:324636
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Ataxia-Telangiectasia	Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level	ORPHA:100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Dystonia, Optic atrophy, Hyperammonemia, Choreoathetosis, Ane...	ORPHA:289916
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Brucellosis	Liver abscess, Lung abscess, Osteomyelitis, Elevated circulating C-reactive protein concentration...	ORPHA:1304
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Exocrine pancreatic...	OMIM:620005
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Ataxia, Optic atrophy, Hyperammonemia, Respiratory insufficiency...	ORPHA:27
Acute Interstitial Pneumonia	Cyanosis, Crackles, Elevated circulating C-reactive protein concentration, Nonproductive cough, D...	ORPHA:79126
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Simple Cryoglobulinemia	Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia...	ORPHA:91139
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir...	ORPHA:562639
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Flexion contracture, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis	OMIM:212065
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration	OMIM:614204
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone m...	OMIM:617303
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Optic atrophy, Bronchiectasis	ORPHA:477814
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Bone cyst, Abnormal spleen morphology, Anemia, Cutaneous abscess	ORPHA:284
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision ci...	OMIM:617341
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Interstitial Lung And Liver Disease	Thrombocytosis, Aminoaciduria, Hyperammonemia, Anemia	OMIM:615486
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Osteomyelitis, Elevated circulating creatine kinase concentratio...	ORPHA:36234
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia	OMIM:617475
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas...	OMIM:619375
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Eosinophilia, Asthma, Respiratory insufficiency, Dysphagia, Arthritis, Gait disturbanc...	ORPHA:183
Cln3 Disease	Ataxia, Bull's eye maculopathy, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Menta...	ORPHA:228346
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite...	OMIM:616738
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Aminoaciduria, Positive ferric chloride test, Megaloblast...	OMIM:229100
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ...	ORPHA:169105
Lassa Fever	Increased circulating IgM level, Jaundice	ORPHA:99824
Atypical Rett Syndrome	Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tremor, Inability to walk, Tongu...	ORPHA:3095
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level	OMIM:619750
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Abnor...	ORPHA:848
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Achilles tendon contracture, Abnormal macrophage morphology, Elevated circulating creatine kinase...	ORPHA:353
Immunodeficiency 12	Abnormal lymphocyte count, Absent isohemagglutinin level, Complete or near-complete absence of sp...	OMIM:615468
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia	ORPHA:75563
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome	Abnormal leukocyte morphology, Ataxia, Retrobulbar optic neuritis, Optic atrophy, Gait disturbance	ORPHA:3151
Bloom Syndrome	Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev...	OMIM:210900
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo...	OMIM:209920
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteo...	ORPHA:53
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli...	ORPHA:125
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Incontinentia Pigmenti	Retinal detachment, Finger syndactyly, Abnormal chorioretinal morphology, Eosinophilia, Camptodac...	ORPHA:464
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased circulating total I...	ORPHA:183675
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Hepatomegaly, Hepatic steatosis, Decreased circulating IgA level	OMIM:613327
Macrocephaly/Autism Syndrome	Splenomegaly, Hepatomegaly, Lymphopenia, Decreased circulating antibody level	OMIM:605309
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Abnormality ...	OMIM:222470
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti...	ORPHA:540
Slc35A2-Cdg	Osteopenia, Increased circulating thyroglobulin level, Camptodactyly of finger, Craniosynostosis,...	ORPHA:356961
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Increased circulating antibody lev...	OMIM:617591
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Apnea, Episodic tachypnea, Dysphagia, Depression, Pigmentary retinopathy, Deme...	ORPHA:79264
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperammonemia, Irritability, Lethargy, Thrombocytopenia, Hyperventilation	OMIM:253270
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Dyspnea, Tachypnea, A...	OMIM:239200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein concent...	OMIM:612852
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Dystonia, Anisocytosis, Microvesicular hepatic s...	OMIM:618278
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Irritability, Lymphopenia, Abnormal repet...	ORPHA:391307
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia	ORPHA:79477
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Thrombocyt...	OMIM:608104
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos...	OMIM:260920
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, A...	OMIM:608799
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u...	OMIM:620085
Rift Valley Fever	Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th...	ORPHA:319251
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Felty Syndrome	Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Bone marrow...	ORPHA:47612
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Impulsivity, Tremor, Optic atrophy, Dysphagia, Depression, Focal dystonia, Irritab...	ORPHA:216873
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr...	ORPHA:319218
Papa Syndrome	Increased circulating antibody level, Lymphadenopathy	ORPHA:69126
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati...	ORPHA:1572
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Granuloma, Hemophagocytosis, Hepatosplenomegaly	OMIM:619858
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Leukocytosis, Bone marrow hypocellularit...	ORPHA:2968
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Rec...	OMIM:602271
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Jaundice, Biliary cirrhosis, Hepatitis, Abn...	ORPHA:186
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Restrictive ventilator...	OMIM:616414
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Hemochromatosis, Type 2B	Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr...	OMIM:613313
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen...	ORPHA:391487
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Tach...	ORPHA:71275
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia	OMIM:251000
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abnormality ...	ORPHA:47
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocyt...	OMIM:603585
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormal long bone morphology, Abnormality of th...	ORPHA:228123
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Sarcoidosis	Hemolytic anemia, Eosinophilia, Hypercalcemia, Thrombocytopenia, Increased T cell count, Bone cys...	ORPHA:797
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le...	ORPHA:29073
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Stuve-Wiedemann Syndrome 1	Apnea, Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short ...	OMIM:601559
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun...	OMIM:170100
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased...	OMIM:617718
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Bull's eye maculopathy, Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, L...	ORPHA:157850
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Riddle Syndrome	Generalized lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level, De...	ORPHA:420741
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R...	ORPHA:264675
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased ...	ORPHA:77259
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein conc...	ORPHA:178320
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Autosomal Agammaglobulinemia	Agammaglobulinemia, Hepatitis, Neutropenia	ORPHA:33110
Tetanus	Respiratory distress, Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Tac...	ORPHA:3299
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Mental deterioration, Lymphopenia	OMIM:617575
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Rheumatoid arthritis, Ne...	OMIM:607944
Tick-Borne Encephalitis	Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor...	ORPHA:297
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Leukopenia, Hy...	ORPHA:99826
Optic Atrophy 11	Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr...	OMIM:617302
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy...	ORPHA:505248
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Biotinidase Deficiency	Hepatomegaly, Ataxia, Apnea, Splenomegaly, Tachypnea, Optic atrophy, Hyperammonemia, Lethargy	OMIM:253260
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia...	OMIM:613989
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Generalized osteop...	ORPHA:2959
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoarthritis, An...	OMIM:606069
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficiency, ...	OMIM:614299
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke...	ORPHA:33226
Lymphatic Filariasis	Knee osteoarthritis, Hypereosinophilia	ORPHA:2035
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph...	ORPHA:293978
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Decreased HDL cholesterol concentration, Hypo...	OMIM:618885
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy, Increased circulating IgA level	ORPHA:343
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Hypoglycemia, Episodic tachypnea, Hyperammonemia, Elevated circulating ...	OMIM:615160
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Lethargy, Th...	ORPHA:49827
Immunodeficiency 56	Panhypogammaglobulinemia, Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection	OMIM:615207
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Increased circulat...	ORPHA:2137
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia	ORPHA:66628
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Recurrent aspiration pneumonia	OMIM:300484
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Normocytic anemia, Pneumonia, Progressive neurologic deterioration, Nod...	ORPHA:247691
Primary Sclerosing Cholangitis	Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell...	ORPHA:171
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Cerebral Creatine Deficiency Syndrome 2	Ataxia, Aggressive behavior, Tremor, Decreased serum creatinine, Elevated circulating guanidinoac...	OMIM:612736
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Pa...	ORPHA:2257
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Arthritis, Hyp...	ORPHA:247353
Citrullinemia Type I	Torticollis, Ataxia, Tachypnea, Hyperammonemia, Ankle clonus, Elevated plasma citrulline, Lethargy	ORPHA:247525
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati...	ORPHA:227990
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Respir...	OMIM:201475
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia	ORPHA:179494
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Femur fracture, Facial palsy, Osteomy...	OMIM:259700
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ...	ORPHA:2169
Chromosome Xq13 Duplication Syndrome	Pes planus, Hyperactivity, Autoimmune thrombocytopenia, Metatarsus adductus, Aggressive behavior,...	OMIM:301069
Thymoma	Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli...	ORPHA:99867
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemi...	OMIM:251900
Autosomal Recessive Progressive External Ophthalmoplegia	Ataxia, Abnormal retinal morphology, Facial palsy, Elevated circulating creatine kinase concentra...	ORPHA:254886
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Lymp...	ORPHA:79078
Cohen Syndrome	Pes planus, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short metacarpal, B...	OMIM:216550
Classic Galactosemia	Hepatomegaly, Ataxia, Postural tremor, Hypoglycemia, Abnormal erythrocyte enzyme level, Jaundice,...	ORPHA:79239
Mirage Syndrome	Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Cushing Disease	Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis	ORPHA:96253
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,...	ORPHA:90003
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Hepatomegaly, Increased bone mineral de...	OMIM:259720
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:614520
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Dubowitz Syndrome	Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula...	OMIM:223370
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Coxa valga, Joint stiffness, Splenomegaly, Optic atrophy, Progressive psych...	OMIM:230600
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Tachypnea, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Cough, Emphys...	OMIM:613658
Pyruvate Dehydrogenase Deficiency	Ataxia, Tremor, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Chor...	ORPHA:765
Joubert Syndrome 7	Central apnea, Retinal dystrophy, Ataxia, Postaxial polydactyly, Episodic tachypnea, Postaxial ha...	OMIM:611560
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Tachypnea, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Hepatomegaly,...	ORPHA:3008
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati...	ORPHA:227982
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dystonia, Ataxia, Micrognathia, Head titubation, Optic atrophy, Bronchiectasis, Dysmetria, Knee f...	OMIM:619708
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Neutropenia, Lymphopenia,...	OMIM:242900
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Short tibia, Pneumothorax, Abnormal circulating ceruloplasmin ...	OMIM:620306
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Increased circulating antibody level	ORPHA:79139
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	OMIM:603553
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Optic atrophy, Dysmetr...	OMIM:617710
Cach Syndrome	Progressive neurologic deterioration, Flexion contracture, Optic atrophy, Nonketotic hyperglycine...	ORPHA:135
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251110
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Hsd10 Mitochondrial Disease	Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurolo...	OMIM:300438
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Reticulocytosis, Hepatomegaly, Increased bone mineral density, Facial palsy, R...	OMIM:611490
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Join...	OMIM:250250
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Opt...	ORPHA:26792
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Abnormal fifth cranial nerve morphology, Elevated circulating C-reactive...	ORPHA:449563
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Episodic ...	ORPHA:26793
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin concentration, O...	OMIM:222700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Elevated circulating creatine kinase concentration, Knee flexion contracture, Macrovesicul...	OMIM:608836
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Dystonia, Crackles...	OMIM:610978
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Hypoglycemia, Dyspnea, Insulin resistance, Elevated circulating creatini...	ORPHA:230
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive meg...	OMIM:249270
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Alg12-Cdg	Hyponatremia, Retinal detachment, Sandal gap, Proximal placement of thumb, Micrognathia, Long fin...	ORPHA:79324
Camurati-Engelmann Disease	Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leuk...	ORPHA:1328
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase co...	OMIM:610377
Poikiloderma With Neutropenia	Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Splenomegaly, ...	OMIM:604173
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio...	OMIM:613320
Hemochromatosis, Type 2A	Splenomegaly, Increased serum iron, Increased circulating ferritin concentration, Arthritis	OMIM:602390
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, T lymphocytopenia, Contracture of the proximal interphalangeal joint of th...	OMIM:618223
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Intermittent hyperventilation, Episodic tachypnea, Hypoglycem...	ORPHA:348
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Optic atrophy, Gait ataxia, Hepatosplenomegaly, Progressive cerebellar ataxia, Hepatic fibrosis, ...	ORPHA:466794
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Aceruloplasminemia	Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia	OMIM:604290
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Diabetes mellitus, Ataxia, Morning glory anomaly, Optic atrophy, Dementia, Gai...	ORPHA:98673
Diamond-Blackfan Anemia 11	Radioulnar synostosis, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Crackles, Confusion, Tachypnea, Hyper...	ORPHA:466650
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi...	ORPHA:167
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocysti...	ORPHA:79282
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Ataxia, Elevated circulating creatine kinase concentration, Abetal...	ORPHA:96180
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys...	OMIM:614576
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia...	OMIM:277380
Methionine Malabsorption Syndrome	Aminoaciduria, Tachypnea, Positive ferric chloride test	OMIM:250900
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level	OMIM:248500
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Optic atrophy, Lim...	OMIM:222300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Camptodactyly of finger, Decreased nerve conduction velocity, Axo...	OMIM:604320
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Aspiration pneumonia, Cherry red spot of ...	ORPHA:845
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Elevated circulating creatinine concentration, Eosinophi...	ORPHA:449395
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic...	ORPHA:99827
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251100
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,...	ORPHA:51636
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Flexion contracture, Tibial bowing, Hypoplasti...	ORPHA:96334
Pediatric-Onset Graves Disease	Hepatomegaly, Hyperactivity, Craniosynostosis, Tremor, Splenomegaly, Jaundice, Neonatal asphyxia,...	ORPHA:525731
Arima Syndrome	Hepatomegaly, Ataxia, Retinal dystrophy, Dyspnea, Postaxial hand polydactyly, Tachypnea, Optic at...	OMIM:243910
Pearson Syndrome	Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,...	ORPHA:699
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Dystonia, Facial palsy, Elevated circulating creatine kinase concentration, Respiratory insuffici...	OMIM:258450
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Elevated circulating creatinine concentration, Periphe...	OMIM:616733
Severe Neurodegenerative Syndrome With Lipodystrophy	Limb dystonia, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Insulin resista...	ORPHA:363400
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Joint contracture, Neutropenia	OMIM:618005
Fusariosis	Brain abscess, Lung abscess, Osteomyelitis, Abnormality of the spleen, Arthritis, Granuloma, Neut...	ORPHA:228119
Cardiocranial Syndrome, Pfeiffer Type	Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachyp...	ORPHA:2872
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F, Irregular os...	OMIM:260400
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia, Recurrent aspirat...	OMIM:258865
Car T Cell Therapy-Associated Cytokine Release Syndrome	Confusion, Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failu...	ORPHA:542323
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre...	OMIM:613070
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatoblastoma, Anorexia, Neoplasm of the thymus, Pancreatic endocrine tumor, Pedal edema, Phe...	ORPHA:99889
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Episodic tachypnea, Micrognathia, Apneic episodes in infancy, Chorioretinal coloboma, Dysphagia	ORPHA:163961
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Anemia, Neutro...	ORPHA:90051
Vici Syndrome	Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, Neutropenia, D...	OMIM:242840
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Brachydactyly, Rhizomelia, Short iliac bones, Metaphyseal widening, Elevated circul...	OMIM:614376
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,...	ORPHA:79284
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration, Bronchiectasis, Cough	OMIM:619468
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute m...	ORPHA:811
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red...	OMIM:610913
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Leukopenia, Lymphocy...	ORPHA:50918
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Pancytopenia, Ataxia, Pneumonia, Confusion, Hepatosplenomegaly, De...	ORPHA:309288
Krabbe Disease	Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atrophy, Motor deteriorat...	OMIM:245200
Joubert Syndrome 30	Postaxial hand polydactyly, Tachypnea, Retinal dystrophy, Apnea	OMIM:617622
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Cyanosis, Abnormal circulating calcium concentration, Nonproductive cough, Dyspnea,...	ORPHA:60025
Cholera	Hyponatremia, Hypoglycemia, Tachypnea, Abnormal blood ion concentration, Irritability, Hypokalemi...	ORPHA:173
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Peripheral axonal neuropathy, Hyperactivity, Ata...	ORPHA:35069
Cowden Syndrome 1	Lymphopenia, Decreased circulating antibody level	OMIM:158350
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Subretinal deposits, Tachypnea, E...	ORPHA:397715
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Oromandibular dyston...	ORPHA:2388
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnes...	ORPHA:37042
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc...	ORPHA:470
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,...	ORPHA:79329
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Gout, Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Q Fever	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn...	ORPHA:781
Doors Syndrome	Thrombocytosis, Sagittal craniosynostosis	ORPHA:79500
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Tachypnea, Hyp...	OMIM:615751
Coach Syndrome 2	Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Portal fibrosis, Hepa...	OMIM:619111
Joubert Syndrome 1	Central apnea, Optic disc pallor, Hyperactivity, Retinal dystrophy, Ataxia, Episodic tachypnea, A...	OMIM:213300
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Dystonia, Hypoglycemia, Optic atrophy, Hyperammonemia, Choreoathetosis, D...	ORPHA:391428
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Spinocerebellar Ataxia Type 1	Dystonia, Postural tremor, Optic atrophy, Dysmetria, Bradykinesia, Progressive cerebellar ataxia,...	ORPHA:98755
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Dilated Cardiomyopathy With Ataxia	Ataxia, Microvesicular hepatic steatosis, Repetitive compulsive behavior, Optic atrophy, Hypochro...	ORPHA:66634
Gm1 Gangliosidosis	Tremor, Aspiration pneumonia, Cherry red spot of the macula, Ataxia, Hepatosplenomegaly, Retinopa...	ORPHA:354
Alg8-Cdg	Hyponatremia, Ataxia, Optic atrophy, Anemia, Talipes equinovarus, Camptodactyly, Retinopathy, Thr...	ORPHA:79325
Stt3B-Cdg	Respiratory distress, Optic atrophy, Thrombocytopenia	ORPHA:370924
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level	ORPHA:1493
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Trem...	OMIM:612199
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Maternal diabetes	ORPHA:45452
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Optic atrophy, Thrombocytopenia	OMIM:615597
Dpm1-Cdg	Hepatic steatosis, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Sand...	ORPHA:79322
Joubert Syndrome 23	Tachypnea, Polydactyly, Apnea	OMIM:616490
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f...	ORPHA:247585
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Neutropenia	OMIM:232220
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Immunodeficiency 58	Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a...	OMIM:618131
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Neutropenia, A...	ORPHA:175
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevated circulating creati...	OMIM:614298
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Peripheral axonal neuropathy, Ataxia, Insulin-resistant diabetes mellitus, Optic ...	ORPHA:401768
Leigh Syndrome	Dystonia, Ataxia, Multiple joint contractures, Progressive neurologic deterioration, Hypoglycemia...	ORPHA:506
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowin...	OMIM:620076
Serotonin Syndrome	Restlessness, Confusion, Tremor, Tachypnea, Mental deterioration, Irritability, Agitation, Abnorm...	ORPHA:43116
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Idiopathic Non-Lupus Full-House Nephropathy	Arthritis, Elevated circulating creatinine concentration, Synovitis	ORPHA:567544
Ethylene Glycol Poisoning	Cyanosis, Ataxia, Facial palsy, Confusion, Tachypnea, Hyperkalemia, Episodic respiratory distress...	ORPHA:31826
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin co...	ORPHA:465508
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Inability to walk, Dysphagia, Opisthotonus, Increased su...	ORPHA:216866
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Sandal gap, Abnormal finger flexion ...	OMIM:210600
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ...	ORPHA:79106
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic atrophy, Hypoplastic optic chia...	OMIM:210000
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocy...	ORPHA:77261
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Contracture of the distal interphalangeal joint of the fingers, Fused c...	ORPHA:83617
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasti...	ORPHA:2298
Lethal Ataxia With Deafness And Optic Atrophy	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, At...	ORPHA:1187
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, C...	OMIM:610921
Hemochromatosis, Type 1	Splenomegaly, Increased serum iron, Osteoporosis, Increased circulating ferritin concentration	OMIM:235200
Joubert Syndrome 3	Central apnea, Retinal dystrophy, Episodic tachypnea, Ataxia, Pigmentary retinopathy, Neonatal br...	OMIM:608629
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Reduced bone mineral density, Axona...	ORPHA:404454
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Confusion, Tachypnea, Chorioretinal atrophy, Hepatitis, Abnormal circulating citrul...	ORPHA:415
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin...	ORPHA:91359
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618838
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Optic atrophy, Chorioret...	OMIM:619487
Multifocal Atrial Tachycardia	Dyspnea, Lethargy, Tachypnea	ORPHA:3282
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Choreoathetosis, Retinal degeneration, Hyperactivity, Ataxia, Acanthocytosis, Abnormal fo...	OMIM:234200
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Pigmentary...	ORPHA:436271
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn...	ORPHA:330015
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithia...	OMIM:618775
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Leukocyte Adhesion Deficiency Type Ii	Leukocytosis, Neutrophilia, Anemia, Microcytic anemia	ORPHA:99843
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Ataxia, Retinal dystrophy, Apnea, Tachypnea, Hand polydactyly, Foot polyda...	ORPHA:2318
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Osteomyelitis, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Osteomyelitis, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233710
Muckle-Wells Syndrome	Hepatomegaly, Camptodactyly of finger, Splenomegaly, Optic atrophy, Restrictive ventilatory defec...	ORPHA:575
Acromelic Frontonasal Dysostosis	Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly...	OMIM:603671
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant...	ORPHA:3132
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr...	ORPHA:2785
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ...	ORPHA:49041
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Micrognathia, Flexion contracture, Hand tremor, Neonatal respiratory distress,...	OMIM:618947
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Proximal femoral metaphyseal irregularity, Coxa ...	ORPHA:168549
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, Intraalveolar phosp...	OMIM:265120
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Elevated amniotic fluid alpha-fetoprotein...	ORPHA:423479
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Opt...	OMIM:220110
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ...	OMIM:201000
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Osteomyelitis, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233690
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit...	ORPHA:309854
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Shigellosis	Hyponatremia, Hypoglycemia, Abscess, Pneumonia, Anorexia, Leukocytosis, Peritonitis, Abnormal blo...	ORPHA:810
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circulating antibody level, ...	ORPHA:2136
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Apnea, Micrognathia, Short tibia, Central retinal vessel vascula...	ORPHA:2751
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dyston...	OMIM:312080
Joubert Syndrome 9	Apnea, Retinal dystrophy, Hepatic fibrosis, Episodic tachypnea	OMIM:612285
Cocaine Intoxication	Respiratory distress, Elevated circulating creatine kinase concentration, Tremor, Wheezing, Tachy...	ORPHA:90068
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Fanconi Renotubular Syndrome 3	Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycos...	OMIM:615605
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Micrognathia, Microcytic anemia, Insulin-resistant diabetes mellit...	ORPHA:293967
Joubert Syndrome	Aganglionic megacolon, Ataxia, Apnea, Episodic tachypnea, Tremor, Hand polydactyly, Gait disturba...	ORPHA:475
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci...	OMIM:300539
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Decreased proportion of CD4-positive helper T cells,...	ORPHA:289390
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pel...	ORPHA:1988
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Macrocytic anemia, Hemolytic anemia, Respiratory distress, ...	OMIM:615512
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Aggressive behavior, Joint sti...	OMIM:252920
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Al Amyloidosis	Hepatomegaly, Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody level...	ORPHA:85443
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618839
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Viss Syndrome	Micrognathia, Generalized joint laxity, Emphysema, Microretrognathia, Long toe, Joint laxity, Ara...	OMIM:619472
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Joint stiffness, Splenomegaly, Motor deterioration, Dense calvaria, ...	OMIM:252930
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Finger syndactyly, Arachnodactyly, ...	ORPHA:193
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno...	ORPHA:79230
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Sandal gap, Micromelia, Hyposegmentation of neutrophil nuclei, Optic at...	OMIM:614800
Mucopolysaccharidosis Type 3	Progressive neurologic deterioration, Adenoiditis, Flexion contracture, Reduced bone mineral dens...	ORPHA:581
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Annular pancreas	OMIM:618162
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten...	OMIM:251880
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Wolfram Syndrome	Central apnea, Diabetes mellitus, Ataxia, Joint stiffness, Abnormal mesentery morphology, Optic a...	ORPHA:3463
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Increased blood urea nitrogen, Restrictive ventila...	OMIM:233450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Hepatic steatosis, Hepatomegaly, Osteoporosis, Increased susce...	ORPHA:79259
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Scorpion Envenomation	Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ataxia, Tremor, ...	ORPHA:466677
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Metaphyseal widening, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, I...	OMIM:618476
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Recurrent fractures, Cranial hyper...	ORPHA:2801
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Cyanosis, Maternal diabetes, Tachypnea, Hypoxemia	ORPHA:860
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Tachypnea, Hypocalcemia, Cyanosis	ORPHA:3426
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Decreased circulating antibody level, He...	ORPHA:247598
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Optic atrophy, Respiratory insufficiency, Hand tremor, Bradykinesia, Gait disturbance, ...	ORPHA:289560
Scleromyxedema	Paraproteinemia	ORPHA:167635
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut...	OMIM:557000
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki...	OMIM:256040
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Ataxia, Apnea, Episodic tachypnea, Micrognathia, Tremor, Centr...	ORPHA:2754
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Flexion contracture, Optic atrophy, Genu...	OMIM:619321
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Osteopenia, Micrognat...	OMIM:617913
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hepatomegaly, Ataxia, Foot joint contracture, Tremor, Optic ...	ORPHA:90321
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Decreased circulating antibody level	ORPHA:79396
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic ...	OMIM:617925
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus	OMIM:616113
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Abnormal optic disc morphology, Cutaneous finger syndactyly, Partial duplication of...	ORPHA:363417
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Meningococcal Meningitis	Papilledema, Neonatal respiratory distress, Stiff neck, Elevated circulating C-reactive protein c...	ORPHA:33475
Charge Syndrome	Hypoplasia of the ulna, Facial palsy, Down-sloping shoulders, Micrognathia, Absent radius, Short ...	OMIM:214800
Mucopolysaccharidosis Type 2	Progressive neurologic deterioration, Abnormal repetitive mannerisms, Oppositional defiant disord...	ORPHA:580
Cardiomyopathy, Dilated, 2H	Tachypnea, Cardiorespiratory arrest	OMIM:620203
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Joubert Syndrome 2	Central apnea, Ataxia, Retinal dystrophy, Episodic tachypnea, Abnormal foot morphology, Postaxial...	OMIM:608091
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple...	OMIM:615846
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Abnormal erythrocyte enzyme level, Abnormal circula...	ORPHA:101330
Hennekam-Beemer Syndrome	Camptodactyly of finger, Pneumonia, Lower limb asymmetry, Micrognathia, Optic atrophy, Respirator...	ORPHA:2135
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Medias...	OMIM:181000
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Ataxia, Elevated ...	ORPHA:496641
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Alpha-Mannosidosis, Infantile Form	Osteopenia, Optic disc pallor, Pancytopenia, Short attention span, Ataxia, Pneumonia, Confusion, ...	ORPHA:309282
Interstitial Nephritis, Karyomegalic	Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Complete Atrioventricular Septal Defect	Hepatomegaly, Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumon...	ORPHA:1329
Kenny-Caffey Syndrome, Type 2	Papilledema, Transient hypophosphatemia, Increased bone mineral density, Retinal calcification, H...	OMIM:127000
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Di...	OMIM:263520
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Hypoglycemia, Micrognathia, Tremor, Microvesicular hepatic steatosis, Tachypnea...	OMIM:220111
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Flexion contracture, Decreased...	ORPHA:89842
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Apnea, Hypoglycemia, Low plasma citrulline, Optic atrophy, Increased hepa...	OMIM:261680
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Broad hallux phalanx, Joint stiffness, Splenom...	ORPHA:585
Fabry Disease	Anorexia, Dyspnea, Hyperlipidemia, Chronic pulmonary obstruction, Optic atrophy, Abnormal femur m...	ORPHA:324
Nephronophthisis 2	Elevated circulating creatinine concentration, Respiratory failure, Hyperkalemia, Respiratory ins...	OMIM:602088
Dermatomyositis	Arthritis, Abnormal eosinophil morphology	ORPHA:221
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Elevated c...	OMIM:223900
Malignant Hyperthermia Of Anesthesia	Hypercapnia, Tachypnea, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Igg4-Related Thyroid Disease	Retroperitoneal fibrosis, Sclerosing cholangitis, Pancreatic fibrosis, Increased circulating IgG4...	ORPHA:64744
Friedreich Ataxia	Decreased motor nerve conduction velocity, Dystonia, Diabetes mellitus, Inability to walk, Abnorm...	ORPHA:95
Acute Liver Failure	Ataxia, Confusion, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocel...	ORPHA:90062
Liver Disease, Severe Congenital	Hyponatremia, Joint laxity, Elevated circulating alpha-fetoprotein concentration, Thrombocytopeni...	OMIM:619991
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Apnea, Optic nerve hypoplasia, Hypoglycemia, Joint stiffness, Flexion contract...	OMIM:609069
Dpagt1-Cdg	Hepatomegaly, Ataxia, Arachnodactyly, Akinesia, Aggressive behavior, Emotional blunting, Inabilit...	ORPHA:86309
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Hyper...	OMIM:232240
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Ap...	OMIM:617301
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Retinal calcification, Anemia, C...	ORPHA:93325
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level	OMIM:618183
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal tibia morphology, Axonal degeneration, Abnormal finger morphology, Abnormal ...	ORPHA:909
Addison Disease	Normocytic anemia, Hyponatremia, Orthostatic hypotension, Salt craving, Hypoglycemia, Hypercalcem...	ORPHA:85138
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Tarp Syndrome	Finger syndactyly, Broad-based gait, Extramedullary hematopoiesis, Apnea, Rocker bottom foot, Pos...	ORPHA:2886
Histiocytoid Cardiomyopathy	Hepatomegaly, Cyanosis, Hypoglycemia, Tachypnea, Optic atrophy, Cough, Lethargy	ORPHA:137675
Papillorenal Syndrome	Joint laxity, Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc co...	OMIM:120330
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Oral-pharyngeal dysphag...	OMIM:616878
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Elevated circ...	ORPHA:480864
Postinfectious Vasculitis	Viral hepatitis, Increased circulating IgA level, Abnormality of humoral immunity, Increased circ...	ORPHA:48435
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Dystonia, Self-mutilation	ORPHA:79233
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hyperalaninemia, Optic disc pallor, Hepatomegaly, Cyanosis, Ataxia, Apnea, Optic neuropathy, Hypo...	OMIM:252010
Cerebrotendinous Xanthomatosis	Optic disc pallor, Ataxia, Osteoporosis, Respiratory insufficiency, Ankle clonus, Abnormal circul...	OMIM:213700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Optic atrophy, ...	ORPHA:847
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Leptospirosis	Respiratory distress, Papilledema, Hepatomegaly, Anorexia, Jaundice, Retinal hemorrhage, Hepatiti...	ORPHA:509
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Dystonia, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia...	OMIM:610217
Coronary Arterial Fistula	Orthopnea, Tachypnea, Pedal edema, Pulmonary arterial hypertension, Exertional dyspnea	ORPHA:2041
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neu...	OMIM:610505
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Airway ob...	ORPHA:99106
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Legius Syndrome	Short attention span, Hyperactivity, Dystonia, Acute monocytic leukemia, Neurofibroma, Diaphyseal...	ORPHA:137605
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Hydrolethalus Syndrome 1	Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Hereditary Sensory And Autonomic Neuropathy Type 4	Painless fractures due to injury, Recurrent aspiration pneumonia, Self-mutilation, Orthostatic hy...	ORPHA:642
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Anemia, Neutropenia	ORPHA:33364
Joubert Syndrome 21	Ataxia, Apnea, Splenomegaly, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Chronic ...	OMIM:615636
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Cysticercosis	Increased circulating antibody level	ORPHA:1560
Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatitis, Anemia, Increased circulating antibody level...	ORPHA:355
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis	OMIM:231100
Cockayne Syndrome	Progressive gait ataxia, Retinal arteriolar constriction, Congenital contracture, Retinal degener...	ORPHA:191
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,...	OMIM:208500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Broad-based gait, Hypoventilation, Apnea, Exaggerated startle resp...	ORPHA:438213
Oligomeganephronia	Polydipsia, Optic disc coloboma, Elevated circulating creatinine concentration, Micrognathia	ORPHA:2260
Cardiogenic Shock	Increased pulmonary capillary wedge pressure, Confusion, Crackles, Dyspnea, Elevated circulating ...	ORPHA:97292
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Abnormal long bone mor...	ORPHA:411634
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Ataxia, Optic atrophy, Osteoporosis, Anemia, Leukopenia, Re...	OMIM:305000
Primary Ciliary Dyskinesia	Asplenia, Polysplenia	ORPHA:244
46,Xy Sex Reversal 4	Micrognathia, Elevated circulating creatinine concentration, Distal symphalangism, Increased bloo...	OMIM:154230
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentratio...	OMIM:276700
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia,...	ORPHA:555874
Trichinellosis	Increased circulating IgE level	ORPHA:863
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Stankiewicz-Isidor Syndrome	Hyperactivity, Absent thumb, Micrognathia, Short thumb, 2-3 toe syndactyly, Abnormal optic disc m...	OMIM:617516
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoalbuminemia, Hepatic fibrosis, I...	OMIM:619534
Campomelic Dysplasia	Respiratory distress, Apnea, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossificatio...	OMIM:114290
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Cholelithiasis, Chronic active hepatitis	OMIM:240300
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Dystonia, Ataxia, Apnea, Segmental peripheral demyelination/remyelination, Dyspnea,...	ORPHA:255210
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Papilledema, Pancytopenia, Broad-based gait, Spontaneous, recurrent epistaxis, Abn...	ORPHA:2072
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Elevated circulating alpha-fetoprotein concentration, Optic atrophy, Gait ataxia, Progressive cer...	ORPHA:95433
Autosomal Dominant Hypocalcemia	Writer's cramp, Optic atrophy, Depression, Fatigable weakness, Reduced bone mineral density, Hype...	ORPHA:428
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Retinal coloboma, Rod-cone dystro...	OMIM:610188
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Truncus Arteriosus	Cyanosis, Tachypnea, Hypoplasia of the thymus, Aplasia/hypoplasia involving bones of the extremities	ORPHA:3384
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Cardiofacioneurodevelopmental Syndrome	Asplenia, Abdominal situs inversus	OMIM:619123
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Limited elbow flexion...	OMIM:164745
Sweeney-Cox Syndrome	Asplenia	OMIM:617746
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac...	OMIM:137920
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
Acromelic Frontonasal Dysplasia	Upper airway obstruction, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Ap...	ORPHA:1827
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Decreased mobilit...	OMIM:164900
Mosaic Trisomy 9	Asplenia, Abnormal liver lobulation	ORPHA:99776
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Micrognathia, Generalized joint laxity, Abnormal optic disc morphology, Hypermobility of interpha...	ORPHA:508498
7Q11.23 Microduplication Syndrome	Pes planus, Collectionism, Hyperactivity, Craniosynostosis, Micrognathia, Aggressive behavior, Lo...	ORPHA:96121
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology	OMIM:219750
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Splenomegaly, Increased circulating IgE level, Pancreatic islet-cell hyperplasia, P...	ORPHA:373
Multisystemic Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Retinal infarction, Tachypnea	OMIM:613834
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Cranioectodermal Dysplasia 1	Hepatic fibrosis, Hypocalcemia, Joint laxity, Hepatomegaly, Rhizomelia, Malformation of the hepat...	OMIM:218330
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Cyanosis, Elevated circulating creatinine concentration	OMIM:617478
Sponastrime Dysplasia	Neutropenia, Decreased circulating antibody level	ORPHA:93357
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Polycystic liver disease, Elevated circulating creatinine concentration, Hepati...	ORPHA:730
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, P...	OMIM:619297
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Facial palsy, Apnea, Micrognathia, Tracheomalacia, Os...	OMIM:300373
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Tibial Hemimelia	Absent tibia	OMIM:275220
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Pedal edema, Exertional dyspnea	ORPHA:2299
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro...	OMIM:249000
Double Outlet Left Ventricle	Tachypnea, Cyanosis	ORPHA:3427
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia	OMIM:306955
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Pseudoaminopterin Syndrome	Asplenia	ORPHA:221120
Alström Syndrome	Respiratory distress, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Ataxia, Portal hypertens...	ORPHA:64
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Cervical C2/C3 vertebral fusion, Asthma, Small hand, Fibular hypoplasia, Hypoplasia...	ORPHA:444077
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia	OMIM:265380
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Decreased circulating antibody level	ORPHA:261537
Tetraamelia Syndrome 1	Asplenia	OMIM:273395
Mowat-Wilson Syndrome	Asplenia, Decreased circulating antibody level	ORPHA:2152
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Decreased circulating antibody level	ORPHA:261552

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 Bach2

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 Bach2.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Bach2^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Bach2^{tm1a(EUCOMM)Wtsi}	PMC7338221
Bach2 Deficiency Leads to Spontaneous Expansion of IL-4-Producing T Follicular Helper Cells and Autoimmunity.	Frontiers in immunology (September 2019)	Bach2^{tm1c(EUCOMM)Wtsi} Bach2^{tm1a(EUCOMM)Wtsi}	PMC6737000
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Bach2^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Bach2^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Bach2^{tm1a(EUCOMM)Wtsi} Bach2^{tm1a(EUCOMM)Wtsi}	PMC5827107

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Bach2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Bach2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Bach2^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Bach2 MGI:894679

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

DSS Histology

X-ray

X-ray

X-ray

Anti-nuclear antibody assay

X-ray

Eye Morphology

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Bach2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data