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Gene: Mtor MGI:1928394

Gene Summary

Name:

mechanistic target of rapamycin kinase

Synonyms:

FKBP-rapamycin-associated protein FRAP, mechanistic target of rapamycin (serine/threonine kinase), RAPT1, flat, Frap1, RAFT1, 2610315D21Rik

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
preweaning lethality, complete penetrance	Mtor^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased blood urea nitrogen level	Mtor^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.59×10^-06
increased circulating sodium level	Mtor^{tm1a(EUCOMM)Wtsi}	HET	Early adult	7.26×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	100% (2 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	100% (2 of 2)
Cartilage tissue	N/A	heterozygote	100% (2 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	Ambiguous
Gall bladder	N/A	heterozygote	50% (1 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	100% (2 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	100% (2 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	100% (2 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	100% (2 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

Mtor^{tm1a(EUCOMM)Wtsi}
forearm, HET, Male, WTSI

Mtor^{tm1a(EUCOMM)Wtsi}
body, HET, Male, WTSI

Mtor^{tm1a(EUCOMM)Wtsi}
head, HET, Male, WTSI

Mtor^{tm1a(EUCOMM)Wtsi}
body, HET, Male, WTSI

View all 169 images

Mtor^{tm1a(EUCOMM)Wtsi}
back skin, WT, Female, WTSI

Mtor^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Mtor^{tm1a(EUCOMM)Wtsi}
eye, abnormal cornea morphology, HET, Female, WTSI

Mtor^{tm1a(EUCOMM)Wtsi}
tail skin, WT, Female, WTSI

Human diseases caused by Mtor 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 Mtor (4 diseases)
Human diseases predicted to be associated with Mtor (772 diseases)

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

Disease	Matching phenotypes	Source
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Large for gestational age, Cryptorchidism, Thrombocytopenia	OMIM:616638
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Large for gestational age, Cryptorchidism	ORPHA:457485
Hemimegalencephaly		ORPHA:99802
Focal Cortical Dysplasia, Type Ii		OMIM:607341

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

Disease	Matching phenotypes	Source
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Caspase 8 Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased CD...	OMIM:607271
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell m...	OMIM:613501
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul...	OMIM:300400
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin...	OMIM:617514
Immunodeficiency 32B	Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepato...	OMIM:226990
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai...	OMIM:615592
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Immunodeficiency 48	Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho...	OMIM:269840
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level, Hypopituitar...	ORPHA:98813
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c...	OMIM:620210
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thromb...	OMIM:616740
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati...	ORPHA:169154
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Absence of lymph node germinal center, Failure to thrive, Lack o...	ORPHA:277
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ...	OMIM:615767
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Neutropenia	OMIM:616022
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l...	ORPHA:100024
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,...	OMIM:601457
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt...	OMIM:616100
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia	OMIM:617585
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:612782
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp...	OMIM:612783
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Stillbirth, Intestinal lymphangiectasia	OMIM:152800
Immunodeficiency With Hyper-Igm, Type 1	Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r...	OMIM:308230
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Decreased circulating antibody level, Splenomegaly, Lym...	ORPHA:397596
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:572
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality...	ORPHA:33355
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Immunodeficiency 22	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased pr...	OMIM:615758
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t...	OMIM:615617
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa...	OMIM:618048
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Pancytopenia...	OMIM:614700
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, D...	ORPHA:90362
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Failure to thrive, Increased circulating IgE level, Lymphopenia, Decrea...	OMIM:102700
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp...	OMIM:620632
Immunodeficiency 61	Decreased circulating total IgM, Obesity, Decreased circulating IgG2 level, Decreased circulating...	OMIM:300310
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Reduced delayed hypersensitivity, Hepatomegaly, Chronic noninfectious lym...	OMIM:603909
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 27A	Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymp...	OMIM:209950
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B l...	OMIM:601495
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c...	OMIM:614493
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Lymp...	OMIM:613101
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadeno...	OMIM:618495
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level, Cryptorchidism	OMIM:616910
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Pancytopenia...	OMIM:275350
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome...	OMIM:301045
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia...	OMIM:602450
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody...	OMIM:618116
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp...	ORPHA:436159
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Hepatocellular carcinoma, Decreased circulating IgA level, Lymph...	OMIM:300755
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat...	OMIM:600802
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat...	ORPHA:169160
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia, Neonatal death	OMIM:257100
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased FOXP3-expressing T cell ...	OMIM:304790
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Failure to thrive, Increased circulating Ig...	OMIM:243700
Mhc Class Ii Deficiency 1	Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia, Biliary tract abnormality, Agammag...	OMIM:209920
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	ORPHA:276
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased...	OMIM:300635
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM level	ORPHA:37748
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Alpha-Heavy Chain Disease	Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
X-Linked Agammaglobulinemia	Hepatitis, Failure to thrive, Abnormality of the lymphatic system, Agammaglobulinemia, Weight los...	ORPHA:47
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu...	OMIM:300972
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Chronic decreased circulating IgG2, Decreased prop...	OMIM:615607
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Immunodeficiency 104	Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,...	OMIM:608971
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Reduced delayed hypersen...	OMIM:242700
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neutro...	OMIM:616395
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Polycystic ovaries, Abnormal te...	ORPHA:100
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia	OMIM:608898
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Autosomal Agammaglobulinemia	Agammaglobulinemia, Failure to thrive, Hepatitis, Neutropenia	ORPHA:33110
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep...	OMIM:615122
Aggressive Systemic Mastocytosis	Hypersplenism, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancytopenia, Leukoc...	ORPHA:98850
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, A...	ORPHA:540
Hemochromatosis, Type 3	Anemia, Lymphopenia, Cirrhosis, Neutropenia	OMIM:604250
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Small for gestational age, Abnormal T ce...	OMIM:215250
Immunodeficiency 23	Failure to thrive, Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropen...	OMIM:615816
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos...	ORPHA:158057
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Paraproteinemia, ...	ORPHA:331235
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Immunodeficiency 7	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,...	OMIM:615387
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Cryptorchidism, Macrocytic anemia, Elev...	OMIM:620501
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas...	OMIM:617099
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, T lymphocy...	OMIM:242860
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ...	OMIM:301000
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Macrocephaly/Autism Syndrome	Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomegaly, Decreased circulatin...	OMIM:605309
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunog...	OMIM:242900
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impaired T cell fun...	OMIM:613179
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig...	ORPHA:83313
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Failure to thrive, Decreased testicular size, Decreased circulat...	OMIM:620040
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Increased circulating interleukin 6 concentration, Failure to thrive, Parotitis...	OMIM:620376
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Weight l...	ORPHA:47612
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Failure to thrive, Large for gestational age, Thrombocytopenia, Neut...	OMIM:614520
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Ethmoidal encephalocele, Anterior hypopitui...	ORPHA:280195
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype...	OMIM:615751
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib	OMIM:603585
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o...	ORPHA:79124
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, Ex...	OMIM:620005
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia	OMIM:304800
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Failure to thrive, Panhypogammaglobulinemia	ORPHA:251009
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos...	ORPHA:275
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen...	ORPHA:381
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Specific Granule Deficiency 2	Failure to thrive, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia	OMIM:617475
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia	ORPHA:529808
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Hemophagocytosis, Abnormality of tumor necrosis f...	ORPHA:158061
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ...	ORPHA:1830
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Complete or near-complete absence of ...	OMIM:615468
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele...	OMIM:616738
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin...	OMIM:608184
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulating antibody level, Auto...	OMIM:615952
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Short stature, Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Immunodeficiency 82 With Systemic Inflammation	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	OMIM:619381
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased ...	ORPHA:90045
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:614120
Bloom Syndrome	Decreased circulating IgG level, Recurrent tonsillitis, Decreased circulating IgA level, Acute ly...	ORPHA:125
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:88
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Hepatomegal...	ORPHA:79330
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neut...	OMIM:169400
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Ane...	OMIM:612301
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Aspergillosis	Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Failure to thrive, Pancytopenia, ...	OMIM:613989
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre...	ORPHA:508533
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces...	ORPHA:2686
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy	ORPHA:353298
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Obesity Due To Congenital Leptin Deficiency	Decreased testicular size, Obesity, Decreased proportion of CD4-positive helper T cells, Decrease...	ORPHA:66628
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Cirrhosis, Decrea...	ORPHA:90363
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomega...	OMIM:620565
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Common Variable Immunodeficiency	Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Decreased circulating antibo...	ORPHA:1572
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Thrombocytopeni...	OMIM:617303
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Neutropenia, Decreased cir...	ORPHA:51636
Obesity Due To Leptin Receptor Gene Deficiency	Decreased testicular size, Obesity, Decreased proportion of CD4-positive helper T cells, Decrease...	ORPHA:179494
Meckel Syndrome 13	Occipital encephalocele, Molar tooth sign on MRI	OMIM:617562
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Failure to thrive, Lymphopenia, Leukopenia, De...	OMIM:242840
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Lymphadenopathy, Thrombocy...	OMIM:619644
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Cryptorchidism, Thrombocytopenia, Neutropenia, Patent ductus arteriosus, Normo...	OMIM:614857
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Megaloblastic anemia, Failure to thrive, Neutropenia	OMIM:250940
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ...	OMIM:243150
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Bloom Syndrome	Decreased circulating IgG level, Leukemia, Decreased circulating IgA level, Hepatic steatosis, Cr...	OMIM:210900
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circul...	OMIM:617388
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production	OMIM:614900
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA lev...	OMIM:615934
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Abnormal lymphocyte mor...	ORPHA:293978
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep...	ORPHA:3162
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia...	ORPHA:3008
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia	OMIM:615508
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia...	OMIM:208900
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation...	OMIM:307200
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Lymphadenopathy, Neutropenia, Thrombocytopen...	ORPHA:520
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Developmental And Epileptic Encephalopathy 66	Anemia, Cryptorchidism, Neutropenia	OMIM:618067
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Nephrogenic Diabetes Insipidus	Hypernatremia	ORPHA:223
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:615577
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi...	ORPHA:169105
Immunoneurologic Disorder, X-Linked	Small for gestational age, Decreased circulating IgG2 level, Neonatal death	OMIM:300076
Joubert Syndrome 18	Intrauterine growth retardation, Occipital encephalocele, Molar tooth sign on MRI, Agenesis of co...	OMIM:614815
Joubert Syndrome 16	Encephalocele, Molar tooth sign on MRI	OMIM:614465
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy	OMIM:619750
Immunodeficiency 40	Eosinophilic granuloma, Reduced antigen-specific T cell proliferation, Thrombocytopenia, Hepatome...	OMIM:616433
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Increased circulating IgE level, Failure to thrive in infancy, Autoimmune hemolytic an...	ORPHA:37042
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Lambert Syndrome	Cholestasis, Failure to thrive in infancy, Intrahepatic biliary atresia, Jaundice, Decreased circ...	ORPHA:1296
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ...	ORPHA:158048
Immunodeficiency 59 And Hypoglycemia	Prolonged neonatal jaundice, Complete or near-complete absence of specific antibody response to u...	OMIM:233600
Propionic Acidemia	Failure to thrive, Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	OMIM:606054
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Pneumocystosis	Abnormal neutrophil count, Weight loss, Increased circulating antibody level	ORPHA:723
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningoce...	OMIM:611134
Cohen Syndrome	Decreased response to growth hormone stimulation test, Leukopenia, Childhood-onset truncal obesit...	OMIM:216550
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Anemia, Pure red cell aplasia, Decreased circulating antibody level, Testic...	OMIM:618165
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Failure to thrive, Abno...	ORPHA:911
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Decreased circulating antibody level, Hepatic cysts	OMIM:617425
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, Neutropenia, ...	OMIM:609053
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia, Abnormality of the pancreas	ORPHA:935
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,...	ORPHA:398124
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly	OMIM:251000
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio...	ORPHA:83471
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Cutaneous abscess, Increased circulating IgE level, Decreased circulating IgA level, Eosinophilia...	OMIM:618282
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Neutropenia	OMIM:618253
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Neutropenia	ORPHA:445038
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Cryptorchidi...	OMIM:607143
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Ery...	OMIM:612541
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Joubert Syndrome 7	Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:611560
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Gómez-López-Hernández Syndrome	Short stature, Abnormal brainstem morphology, Hydrocephalus	ORPHA:1532
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly,...	OMIM:617591
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality of the liver, Mac...	ORPHA:2169
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level, Failure to thrive	OMIM:617744
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t...	OMIM:256500
Wolcott-Rallison Syndrome	Exocrine pancreatic insufficiency, Abnormality of the liver, Decreased body weight, Lymphocytosis...	ORPHA:1667
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu...	ORPHA:811
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T...	OMIM:618213
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Cryptorchidis...	ORPHA:83617
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impaired T cell functio...	OMIM:614576
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent tonsil...	ORPHA:183675
Congenital Enterovirus Infection	Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Th...	ORPHA:292
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv...	OMIM:617052
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia	OMIM:620133
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocyti...	OMIM:613990
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos...	OMIM:258900
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycinemia, Hypernatremia	OMIM:620423
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physiology, Weight loss, Le...	ORPHA:99867
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Neutropenia	OMIM:620012
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Barth Syndrome	Failure to thrive, Cyclic neutropenia, Hypochromic microcytic anemia, Neutropenia, Granulocytopenia	OMIM:302060
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Decreased body weight, Hepatomegaly, Anemia, Neutropenia, Thrombocyto...	ORPHA:90051
Joubert Syndrome 9	Encephalocele, Molar tooth sign on MRI	OMIM:612285
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Failure to thrive, Pancytopenia, Hepatomegaly, Patent ductus arteriosus, Megaloblastic anemia, Th...	OMIM:277380
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia...	OMIM:227645
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia, Decrea...	OMIM:226300
Mirage Syndrome	Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Decreased body weight, Thromb...	OMIM:617053
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Acute...	ORPHA:319218
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Coach Syndrome 2	Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:619111
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:617127
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L...	OMIM:260920
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, ...	OMIM:260400
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Hereditary Orotic Aciduria	Anemia, Patent ductus arteriosus, Splenomegaly, Impaired T cell function	ORPHA:30
Necrotizing Enterocolitis	Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia, Small for gestational age	ORPHA:391673
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Joubert Syndrome 22	Intrauterine growth retardation, Molar tooth sign on MRI	OMIM:615665
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227990
Hyperkalemic Periodic Paralysis	Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration	ORPHA:682
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:251110
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s...	OMIM:602668
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Large for gestational age, Cryptorchidism, Thrombocytopenia	OMIM:616638
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	ORPHA:79329
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ...	ORPHA:54251
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Cowden Syndrome 1	Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Decreased circulating antibody level, Hydro...	OMIM:158350
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Joubert Syndrome 4	Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ...	OMIM:609583
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Patent ductus arteriosus	ORPHA:99811
Methylmalonic Acidemia With Homocystinuria Type Cblf	Reduced number of intrahepatic bile ducts, Megaloblastic anemia, Failure to thrive, Neutropenia	ORPHA:79284
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia	OMIM:604173
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit...	ORPHA:228119
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Weight loss, Lymphadenopathy, Anemia, Increased ci...	ORPHA:29073
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Absc...	ORPHA:400
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Failure to thrive in infancy, Decreased circulating IgA level, Pancytopenia, Hypersple...	OMIM:613385
Evans Syndrome	Jaundice, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of an...	ORPHA:1959
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Leukocyto...	OMIM:615688
Revesz Syndrome	Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia	OMIM:268130
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Fusion of the left and right thalami, Midline brainstem cleft, Agenesis o...	OMIM:617542
Alg12-Cdg	Failure to thrive, Abnormal circulating IgM level, Complete or near-complete absence of specific ...	ORPHA:79324
Fanconi Anemia, Complementation Group E	Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,...	OMIM:600901
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hemolytic anemia,...	ORPHA:906
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Slc35A2-Cdg	Abnormal midbrain morphology, Lateral ventricle dilatation, Intrauterine growth retardation, Atro...	ORPHA:356961
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Encephalocele, Agenesis of corpus callosum, Abnormal hypothalamus m...	ORPHA:314621
Shwachman-Diamond Syndrome 2	Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,...	OMIM:617941
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227982
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Patent ductus arteriosus, Neutropenia	OMIM:612562
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Failure to thrive, Neutropenia	OMIM:618005
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly	OMIM:248500
Congenital Isolated Acth Deficiency	Hyponatremia	ORPHA:199296
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia	OMIM:607944
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Reduced ...	ORPHA:449432
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto...	OMIM:227646
Fanconi Anemia, Complementation Group A	Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia,...	OMIM:227650
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Impaired T cell function, Decreased testicular size, Splenomegaly, Hepatomegaly	OMIM:201100
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia	OMIM:616271
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Riddle Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Generalized lymphadenopathy, We...	ORPHA:420741
Cartilage-Hair Hypoplasia	Failure to thrive, Hepatomegaly, Neutropenia, Anemia, Decreased circulating antibody level, Abnor...	ORPHA:175
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Syndromic Diarrhea	Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ...	ORPHA:84064
Meckel Syndrome, Type 10	Occipital encephalocele, Molar tooth sign on MRI, Anencephaly	OMIM:614175
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Failure to thrive, Small for gestational age, Neutropenia	OMIM:615471
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia	ORPHA:83601
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, ...	OMIM:618278
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Hepatomegaly, Neutropenia	OMIM:251900
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Joubert Syndrome 14	Hypoplasia of the brainstem, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Meningocele, ...	OMIM:614424
Pearson Marrow-Pancreas Syndrome	Failure to thrive, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hepatom...	OMIM:557000
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym...	ORPHA:829
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79273
Khan-Khan-Katsanis Syndrome	Failure to thrive, Lymphopenia, Patent ductus arteriosus after premature birth, Neutropenia, Anemia	OMIM:618460
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Autoimmune Hepatitis	Viral hepatitis, Splenomegaly, Sclerosing cholangitis, Increased circulating antibody level, Jaun...	ORPHA:2137
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ...	ORPHA:100924
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc...	OMIM:251260
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Pearson Syndrome	Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Decreased response to growth horm...	ORPHA:699
Xq28 (MECP2) duplication	Decreased circulating IgA level, Failure to thrive	DECIPHER:45
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia	OMIM:620157
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology, Growth delay	ORPHA:411493
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia	OMIM:608688
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Annular pancreas, Patent ductus arteriosus	OMIM:618162
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Cryptorchidism, Ne...	ORPHA:33364
Joubert Syndrome 30	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:617622
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Snakebite Envenomation	Hyponatremia	ORPHA:449285
Brucellosis	Granuloma, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality ...	ORPHA:1304
Joubert Syndrome 3	Elongated superior cerebellar peduncle, Lateral ventricle dilatation, Molar tooth sign on MRI	OMIM:608629
Joubert Syndrome 10	Short stature, Growth delay, Molar tooth sign on MRI	OMIM:300804
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia	ORPHA:1930
Cryptogenic Organizing Pneumonia	Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Biliary cirrhosis, Abnormality of body w...	ORPHA:2298
Immunodeficiency 58	Cutaneous abscess, Failure to thrive, Decreased specific antibody response to vaccination, Decrea...	OMIM:618131
Congenital Muscular Dystrophy With Cerebellar Involvement	Decreased thalamic volume, Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the bra...	ORPHA:370959
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Impa...	ORPHA:3132
Joubert Syndrome 2	Hypoplasia of the brainstem, Brainstem dysplasia, Encephalocele, Elongated superior cerebellar pe...	OMIM:608091
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Granuloma, Cholestasis, Interface hepatitis, Sclerosing cholangitis, G...	ORPHA:562639
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating IgA level, Obesity, Hypoparathyroidism, Decreased circulating total IgM, Pa...	ORPHA:369837
Cohen Syndrome	Failure to thrive in infancy, Obesity, Cryptorchidism, Neutropenia	ORPHA:193
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:99852
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Parotitis, Reduced circulating co...	ORPHA:289390
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:613090
Hennekam Syndrome	Lymphopenia, Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmonary lymphangiectasia, Decreased c...	ORPHA:2136
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Alg8-Cdg	Hyponatremia	ORPHA:79325
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Failure to thrive in infancy, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal ...	ORPHA:228426
Glycogen Storage Disease Ib	Splenomegaly, Pancreatitis, Pancreatic fibrosis, Neutropenia, Hepatomegaly, Hepatocellular carcinoma	OMIM:232220
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology	ORPHA:206448
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Jaundice	ORPHA:91547
Immunodeficiency 56	Failure to thrive, Panhypogammaglobulinemia, Chronic hepatitis due to cryptosporidium infection, ...	OMIM:615207
Joubert Syndrome With Renal Defect	Hydrocephalus, Encephalocele, Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:220497
Celiac Disease, Susceptibility To, 1	Failure to thrive, Decreased circulating IgA level, Macrocytic anemia, Iron deficiency anemia, We...	OMIM:212750
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Joubert Syndrome 8	Occipital encephalocele, Molar tooth sign on MRI	OMIM:612291
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Pediatric-Onset Graves Disease	Failure to thrive, Goiter, Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-neutro...	ORPHA:525731
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hepatomegaly, Small for g...	OMIM:277400
Toxic Epidermal Necrolysis	Weight loss, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:537
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Hepatosplenomegaly, Leukopenia, Thr...	ORPHA:505248
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neonatal death, Neutropenia, Jaundice, Patent ductus arteriosus	OMIM:617248
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Tick-Borne Encephalitis	Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase...	ORPHA:297
Coach Syndrome 1	Occipital encephalocele, Encephalocele, Molar tooth sign on MRI, Growth delay	OMIM:216360
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Igg4-Related Pachymeningitis	Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating complement concen...	ORPHA:449427
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Rhizomelic arm sh...	ORPHA:397715
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele, Molar tooth sign on MRI	ORPHA:2318
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Failure to thrive, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepato...	OMIM:222470
Joubert Syndrome 32	Molar tooth sign on MRI	OMIM:617757
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased...	OMIM:181000
Leukocyte Adhesion Deficiency Type Ii	Failure to thrive, Microcytic anemia, Leukocytosis, Hepatomegaly, Abnormal isohemagglutinin level...	ORPHA:99843
Adrenal Hypoplasia, Congenital	Hyponatremia	OMIM:300200
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Failure to thrive, Hepatic amyloidosis, Decrea...	ORPHA:470
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Failure to thrive	OMIM:602361
Joubert Syndrome With Ocular Defect	Hydrocephalus, Encephalocele, Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:220493
Joubert Syndrome 35	Elongated superior cerebellar peduncle, Molar tooth sign on MRI	OMIM:618161
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the...	OMIM:618223
Rift Valley Fever	Hepatitis, Jaundice, Thrombocytopenia, Anemia, Increased circulating IgG level, Increased circula...	ORPHA:319251
Polymicrogyria Due To Tubb2B Mutation	Abnormal brainstem morphology, Lateral ventricle dilatation, Hypoplasia of the pons, Agenesis of ...	ORPHA:300573
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating int...	ORPHA:391487
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia	ORPHA:97362
Leigh Syndrome	Anemia, Failure to thrive, Neutropenia	ORPHA:506
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Neutropenia	OMIM:617799
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Agenesis of corpus callosum	ORPHA:255182
Joubert Syndrome 6	Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ...	OMIM:610688
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis, Hepatomegaly	OMIM:613327
Joubert Syndrome 37	Short stature, Molar tooth sign on MRI	OMIM:619185
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating IgG4 level, A...	ORPHA:79078
Hermansky-Pudlak Syndrome	Weight loss, Neutropenia	ORPHA:79430
Joubert Syndrome 38	Small pituitary gland, Ectopic posterior pituitary, Decreased response to growth hormone stimulat...	OMIM:619476
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Infant Botulism	Hyponatremia	ORPHA:178478
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgE level, Reduced circulating complement concentration, Inc...	ORPHA:449395
Joubert Syndrome 1	Hypoplasia of the brainstem, Brainstem dysplasia, Occipital myelomeningocele, Elongated superior ...	OMIM:213300
Psoriasis 14, Pustular	Cholangitis, Leukocytosis, Neutrophilia	OMIM:614204
Juvenile Nephropathic Cystinosis	Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H...	ORPHA:411634
Porphyria Variegata	Hyponatremia, Abnormal circulating porphyrin concentration	ORPHA:79473
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Rothmund-Thomson Syndrome	Aplastic anemia, Anemia, Neutropenia, Leukemia, Small for gestational age	ORPHA:2909
Tubulinopathy-Associated Dysgyria	Abnormal brainstem morphology, Hypoplasia of the pons, Abnormal thalamus morphology	ORPHA:467166
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abnormality of the liver, Abscess, Eosinophilia, Peritoniti...	ORPHA:228123
Japanese Encephalitis	Abnormal midbrain morphology, Abnormal thalamus morphology, Abnormal substantia nigra morphology,...	ORPHA:79139
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Cryptorchidism, Anemia, Neutropenia, Leukemia, Small for gestational age	ORPHA:221008
Legionnaires Disease	Hyponatremia	ORPHA:549
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Splenomegaly, Abscess, Neutrophilia, Hepatomegaly	OMIM:612852
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Decreased circulating antibody level, Failure to thrive	ORPHA:79396
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Failure to thrive, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Jaundice	ORPHA:79282
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia	ORPHA:361
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hepatic fibrosis, Failure to thrive, Decreased circulating IgA l...	OMIM:212065
X-Linked Intellectual Disability, Nascimento Type	Patent ductus arteriosus, Cryptorchidism, Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegaly, Abnormal intra...	ORPHA:186
Joubert Syndrome 39	Occipital encephalocele, Molar tooth sign on MRI	OMIM:619562
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Failure to thrive in infancy, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, A...	ORPHA:247598
Rabin-Pappas Syndrome	Hyponatremia	OMIM:620155
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Failure to thrive, Hepatic steatosis, Increased hepatic glycogen content, Polycystic ovaries, Hep...	ORPHA:79259
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hypoplasia of the brainstem, Occipital meningocele, Hydrocephalus, Molar tooth sign on MRI, Anenc...	OMIM:616546
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Cryptorchidism, Anemia, Neutropenia, Leukemia, Small for gestational age	ORPHA:221016
Whipple Disease	Hyponatremia	ORPHA:3452
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperuricemia	ORPHA:199299
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis	OMIM:617913
Sponastrime Dysplasia	Decreased circulating antibody level, Small for gestational age, Neutropenia	ORPHA:93357
Acute Adrenal Insufficiency	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:95409
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Orofaciodigital Syndrome Vi	Agenesis of corpus callosum, Hypothalamic hamartoma, Molar tooth sign on MRI, Short stature, Occi...	OMIM:277170
Yellow Fever	Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating inter...	ORPHA:99829
Sweet Syndrome	Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, L...	ORPHA:3243
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Crimean-Congo Hemorrhagic Fever	Parotitis, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Orchitis, Jaundic...	ORPHA:99827
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hypertension...	ORPHA:171
Cerebellar-Facial-Dental Syndrome	Severe short stature, Abnormal midbrain morphology, Infancy onset short-trunk short stature, Hypo...	ORPHA:444072
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Large for gestational age, Cryptorchidism	ORPHA:457485
Zygomycosis	Brain abscess, Hepatitis, Peritonitis, Pancreatitis, Splenic abscess, Neutropenia, Mediastinal ly...	ORPHA:73263
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Macrov...	OMIM:613070
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatitis, Pancytopenia, Leukopenia, Splenomegaly, Increased ...	ORPHA:355
Adenohypophysitis	Hyponatremia	ORPHA:95512
Glycogen Storage Disease Ic	Cyclic neutropenia, Chronic pancreatitis, Hepatoblastoma, Hepatomegaly, Hepatocellular carcinoma	OMIM:232240
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Lassa Fever	Jaundice, Increased circulating IgM level	ORPHA:99824
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Transient neutropenia	OMIM:617107
Panhypophysitis	Hyponatremia	ORPHA:95513
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal hypothalamus morpho...	ORPHA:68
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration	OMIM:610505
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia	OMIM:602522
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Abnormal brainstem morphology, Hydrocephalus	ORPHA:163961
Thrombocytopenia-Absent Radius Syndrome	Pancreatic cysts, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Decre...	OMIM:274000
Gangliocytoma	Pituitary prolactin cell adenoma, Abnormal brainstem morphology, Pituitary null cell adenoma, Adr...	ORPHA:251937
Microphthalmia, Syndromic 9	Multilobulated spleen, Cryptorchidism, Neonatal death, Hypoplastic spleen, Patent ductus arteriosus	OMIM:601186
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Pituitary Apoplexy	Hyponatremia	ORPHA:95613
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Transient neutropenia, Chronic neutropenia	ORPHA:500095
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Fusion of the left and right thalami, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:619306
Shigellosis	Hyponatremia, Abnormal blood ion concentration	ORPHA:810
Familial Dysautonomia	Hyponatremia	ORPHA:1764
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchitis, Eosino...	ORPHA:449563
Bartter Syndrome Type 4	Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	ORPHA:89938
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Decreased circulating IgA level, Cryptorchidism...	OMIM:223370
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Encephalocele, Molar tooth sign on MRI, Stillbirth	OMIM:616300
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem morphology, Abnormal thalamus morphology, Abnormal brainstem MRI signal intensity	ORPHA:88619
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Failure to thrive, Increased circulating inter...	OMIM:256040
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:168558
Arima Syndrome	Growth delay, Hypoplasia of the brainstem, Brainstem dysplasia, Molar tooth sign on MRI, Occipita...	OMIM:243910
Addison Disease	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:85138
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:289548
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Disproportionate short-limb short stature, Lateral ventricle dilatation, M...	OMIM:619479
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hyperkalemia, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:275761
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia	OMIM:618252
Acute Intermittent Porphyria	Hyponatremia	ORPHA:79276
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale...	OMIM:219800
Sheehan Syndrome	Hyponatremia	ORPHA:91355
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Orofaciodigital Syndrome Type 6	Short stature, Growth delay, Molar tooth sign on MRI, Hypothalamic hamartoma	ORPHA:2754
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Failure to thrive, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis,...	ORPHA:3260
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Abnormal brainstem morphology, Elongated superior cerebellar peduncle	ORPHA:370022
Joubert Syndrome 5	Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI	OMIM:610188
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Macroorchidism, Neutropenia	OMIM:208400
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Holoprosencephaly	Hyponatremia	ORPHA:2162
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly	OMIM:249100
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI	OMIM:617563
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia	ORPHA:534
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
47,Xyy Syndrome	Increased circulating gonadotropin level, Abnormal brainstem morphology, Hydrocephalus	ORPHA:8
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Increased circulating prolactin concentration, Decreased response t...	ORPHA:293987
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Monosomy 18Q	Secondary growth hormone deficiency, Failure to thrive, Bilateral cryptorchidism, Slender build, ...	ORPHA:1600
Spinocerebellar Ataxia Type 1	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem	ORPHA:98755
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Obesity, Splenomegaly, Hepatic ...	OMIM:188400
Meckel Syndrome, Type 1	Occipital encephalocele, Intrauterine growth retardation, Large placenta, Agenesis of corpus call...	OMIM:249000
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Abnormal brainstem morphology, Hydrocephalus	ORPHA:2720
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Small for gestational age	OMIM:601675
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Sclerosing cholangitis,...	ORPHA:64744
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Abnormal brainstem morphology	ORPHA:79279
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Down Syndrome	Polycythemia, Obesity, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thromb...	ORPHA:870
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Aprosencephaly	OMIM:601374
22Q11.2 Deletion Syndrome	Cholelithiasis, Failure to thrive, Impaired T cell function, Obesity, Splenomegaly, Cryptorchidis...	ORPHA:567
Cerebellofaciodental Syndrome	Short stature, Hypoplasia of the pons, Hypoplasia of the midbrain	OMIM:616202
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Hyperbilirubinemia, Hypocalcemia, Hyperammonemia, H...	OMIM:619991
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Weight loss, Increas...	ORPHA:91500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Increased serum bile acid concentration	ORPHA:731
Velocardiofacial Syndrome	Hypoparathyroidism, Cryptorchidism, Impaired T cell function	OMIM:192430
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Short stature, Abnormal brainstem morphology, Intrauterine growth retardation	OMIM:301310
Orofaciodigital Syndrome Xiv	Partial agenesis of the corpus callosum, Holoprosencephaly, Occipital encephalocele, Molar tooth ...	OMIM:615948
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology	ORPHA:231160
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Abnormal brainstem morphology, Abnormal pons morphology	ORPHA:370997
Progeroid Short Stature With Pigmented Nevi	Small for gestational age, Impaired T cell function	OMIM:176690
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Parathyroid hypoplasia	ORPHA:2237
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Abnormal brainstem mor...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Abnormal brainstem mor...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Abnormal brainstem mor...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Abnormal brainstem mor...	ORPHA:220386
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Dilated third ventricle, Molar tooth sign on MRI	ORPHA:434179
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormal brainstem morphology, Intrauterine growth retardation, Birth length less than 3rd percen...	ORPHA:464311
Wilson Disease	Face of the giant panda sign	OMIM:277900
Viss Syndrome	Failure to thrive, Increased circulating IgE level, Decreased circulating IgA level, Hypereosinop...	OMIM:619472
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Failure to thrive in infancy, Secretory IgA deficiency, Absent g...	ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Failure to thrive, Cryptorchidism, Asplenia, Decreased circulating antibody level, Hydrocele testis	ORPHA:261537
Mowat-Wilson Syndrome	Cryptorchidism, Decreased body weight, Patent ductus arteriosus, Asplenia, Decreased circulating ...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Failure to thrive, Cryptorchidism, Patent ductus arteriosus, Asplenia, Decreased circulating anti...	ORPHA:261552
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology	ORPHA:93256
Hemimegalencephaly		ORPHA:99802
Focal Cortical Dysplasia, Type Ii		OMIM:607341

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 Mtor

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Mtor.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Insulin-like Growth Factor 1 Signaling in Mammalian Hearing.	Genes (September 2021)	Mtor^{tm1a(EUCOMM)Wtsi}	PMC8535591
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Mtor^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Mtor^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Mtor^{tm1a(EUCOMM)Wtsi}	PMC6459510
Activation of AKT-mTOR Signaling Directs Tenogenesis of Mesenchymal Stem Cells.	Stem cells (Dayton, Ohio) (January 2018)	Mtor^{tm1a(EUCOMM)Wtsi}	29315990
MTOR inhibitor-based combination therapies for pancreatic cancer.	British journal of cancer (January 2018)	Mtor^{tm1c(EUCOMM)Wtsi} Mtor^{tm1a(EUCOMM)Wtsi}	PMC5808033
Metabolic regulator LKB1 is crucial for Schwann cell-mediated axon maintenance.	Nature neuroscience (September 2014)	Mtor^{tm1a(EUCOMM)Wtsi}	PMC4494117

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
Mtor^{tm608(pL1L2_GT0_DelLacZ_bsd)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mtor^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Mtor^{tm608(L1L2_gt0_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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

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