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Gene: Myd88 MGI:108005

Gene Summary

Name:

myeloid differentiation primary response gene 88

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal behavior		Myd88^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	7.64×10^-05

Download data as: TSV XLS

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

Histopathology

Images

6 Images

View images

Legacy Phenotype Associated Images

Myd88^{tm1a(EUCOMM)Wtsi}
forearm, HOM, Male, WTSI

Myd88^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Myd88^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Myd88^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

Myd88^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

View all 68 images

Myd88^{tm1a(EUCOMM)Wtsi}
eye, abnormal retinal pigmentation, HOM, Male, WTSI

Myd88^{tm1a(EUCOMM)Wtsi}
eye, eyelids fail to open, HOM, Female, WTSI

Myd88^{tm1a(EUCOMM)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Myd88 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 Myd88 (4 diseases)
Human diseases predicted to be associated with Myd88 (1322 diseases)

The table below shows human diseases associated to Myd88 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Recurrent bacterial skin infections	ORPHA:183713
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Lymphoma	OMIM:153600
Waldenström Macroglobulinemia	Normocytic anemia, Recurrent infections, Monoclonal immunoglobulin M proteinemia, Gingival bleedi...	ORPHA:33226
Immunodeficiency 68	Sepsis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent meningitis, T l...	OMIM:612260

The table below shows human diseases predicted to be associated to Myd88 by phenotypic similarity.

Disease	Matching phenotypes	Source
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo...	OMIM:615206
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D...	OMIM:300988
Immunodeficiency 20	Severe varicella zoster infection, BCGitis, Recurrent otitis media, Recurrent viral upper respira...	OMIM:615707
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Candidiasis, Familial, 1	Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation	OMIM:614493
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe...	ORPHA:2688
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin...	OMIM:615214
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Secretory Component Deficiency	Chronic intestinal candidiasis, Secretory IgA deficiency	OMIM:269650
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Hyp...	ORPHA:98813
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob...	OMIM:300400
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Recurrent bacterial infections	OMIM:300299
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,...	OMIM:618944
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac...	OMIM:614172
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t...	OMIM:613495
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Immunodeficiency 32B	BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG lev...	OMIM:226990
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections	OMIM:610798
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia, Recurrent bacterial infections	ORPHA:86788
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect...	OMIM:616022
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in...	OMIM:613494
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Glycoprotein Storage Disease	Gout	OMIM:232900
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Protracted di...	OMIM:610163
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Autoimmune Lymphoproliferative Syndrome	Antiphospholipid antibody positivity, Increased circulating IgA level, Hepatomegaly, Autoimmune t...	OMIM:601859
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Hypoglycemia, Recurrent urinary tra...	OMIM:612783
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large int...	OMIM:619281
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Lymphoproliferative disorder	OMIM:242880
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased circulating antibody leve...	OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Muco...	OMIM:615767
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni...	ORPHA:277
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m...	OMIM:613101
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Molluscum contagiosum, Recurrent ot...	OMIM:618982
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo...	OMIM:243150
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening...	OMIM:616740
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Anti-thyroglobulin antibody p...	OMIM:618048
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa...	OMIM:308230
Immunodeficiency 53	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect...	OMIM:617585
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag...	OMIM:267500
Autoimmune Lymphoproliferative Syndrome, Type Iia	Antiphospholipid antibody positivity, Increased circulating IgA level, Hepatomegaly, Autoimmune t...	OMIM:603909
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoi...	OMIM:619220
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Subacute Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Leukocytosis, Tremor, Severe infection, Axonal loss, Demyelinating moto...	ORPHA:206594
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ...	OMIM:243700
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Chronic tinea infection, Abnormal natural killer cell c...	OMIM:212050
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Recurrent respirat...	OMIM:300635
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Abnormal T cell count, Conjunctiv...	OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity	OMIM:608898
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Verrucae, Recurre...	ORPHA:217390
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia,...	ORPHA:3261
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent viral infections, Gastroesophageal reflux, Increased circulating IgE...	OMIM:620532
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 81	Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced natural ki...	OMIM:619374
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Recurrent viral infections, Increased circulating IgE level, I...	OMIM:620565
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased...	OMIM:606367
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A...	ORPHA:37042
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Verrucae, Eczematoi...	OMIM:620632
Pgm3-Cdg	Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ...	ORPHA:443811
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Sensorineural hearing impairment, Erythroderma, Neutropenia, Reduced natural ki...	ORPHA:540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Anti...	OMIM:304790
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperglycemia, Hyperinsulinemi...	ORPHA:2298
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobul...	ORPHA:276
Mhc Class Ii Deficiency 1	Recurrent viral infections, Protracted diarrhea, Neutropenia, Recurrent lower respiratory tract i...	OMIM:209920
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections	OMIM:608957
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Dec...	OMIM:618495
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,...	OMIM:613493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Decreased circulating IgA level, Recurrent infection of the gas...	OMIM:137100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l...	ORPHA:436159
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Immunodeficiency 70	Verrucae, Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive h...	OMIM:618969
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmuni...	ORPHA:411593
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczematoid dermatitis, Increased circulating IgE level, Decreased serum insulin-like growth facto...	OMIM:618985
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Abnormal T cell count,...	OMIM:607594
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Recurrent acute respiratory tract infecti...	ORPHA:231445
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent respirat...	OMIM:613953
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Hyp...	OMIM:615577
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Meningitis, Intestinal perforation, Pleural empyema, Abnormal circulati...	ORPHA:544482
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proporti...	OMIM:301000
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti...	ORPHA:48435
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte...	OMIM:607271
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas...	OMIM:617241
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Griscelli Syndrome, Type 2	Spasticity, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenomegaly, Recurrent bac...	OMIM:607624
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Methicillin-resistant ...	OMIM:618282
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Lymphoma, Hodgkin, Classic	Hodgkin lymphoma, Polyclonal elevation of IgM	OMIM:236000
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran...	OMIM:607676
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, ...	OMIM:607734
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, Recurrent infections, Post-vaccination polio	OMIM:616941
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ...	OMIM:617006
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Folate Malabsorption, Hereditary	Ataxia, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Recurr...	OMIM:229050
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Vomiting, Secretory diarrhea, Increased circulating IgE level, Recurrent bro...	OMIM:616069
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr...	OMIM:609529
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints	ORPHA:50809
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Clumsiness, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Recurrent respiratory infections, Rheumatoid factor positive, Lymphopenia, Leukope...	OMIM:615934
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Increased proportion of gamma-delta ...	OMIM:617514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Diarrhea, Inflammatory abnormality of the skin, Increased circulating...	OMIM:102700
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Autoinflammation With Arthritis And Dyskeratosis	Laryngeal papilloma, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate kerat...	OMIM:617388
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of t...	ORPHA:906
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Recurrent bacterial skin infections	ORPHA:183713
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Decreased num...	OMIM:180800
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Basal lamina onion bulb formation, Peripheral demyelination, Gait ataxia, Dec...	OMIM:614895
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Diarrhea, Rheumatoid factor positive, Hepatosplenomegaly, Thrombocyto...	OMIM:209950
Immunodeficiency 23	Allergic rhinitis, Increased circulating IgE level, Molluscum contagiosum, Lymphopenia, Abscess, ...	OMIM:615816
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Autoimmunity, Arthritis	OMIM:216950
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Severe varicella zoster infection, Hearing impairment, Recurren...	ORPHA:397596
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le...	ORPHA:169160
Glutathione Synthetase Deficiency	Neutropenia, Ataxia, Spastic tetraparesis, Hemolytic anemia, Intention tremor	OMIM:266130
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Hyper-Igd Syndrome	Recurrent infections, Diarrhea, Vomiting, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegal...	OMIM:260920
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Protracted diarrhea,...	ORPHA:331206
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,...	OMIM:616098
Primary Biliary Cholangitis	Increased circulating IgA level, Cirrhosis, Abdominal distention, Hepatomegaly, Jaundice, Celiac ...	ORPHA:186
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:619752
Pontocerebellar Hypoplasia, Type 15	Delayed CNS myelination, Thrombocytopenia, Hypertonia, Anemia, Spastic tetraplegia, Chronic neutr...	OMIM:619302
Immunodeficiency 66	Meningitis, Defective T cell proliferation, Sepsis	OMIM:618847
Pontocerebellar Hypoplasia, Type 14	Delayed CNS myelination, Hypertonia, Thrombocytopenia, Spastic tetraplegia, Chronic neutropenia	OMIM:619301
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, H...	OMIM:301078
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Recurrent candida infections, P...	OMIM:269840
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level...	OMIM:616873
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Reduced natur...	OMIM:616050
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Ataxia-Pancytopenia Syndrome	Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Ankle clonus, Babinski sign, Thro...	OMIM:159550
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
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia...	OMIM:312863
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, Apraxia, ...	ORPHA:71277
Angel-Shaped Phalangoepiphyseal Dysplasia	Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib...	OMIM:105835
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Immunoglobulin Kappa Light Chain Deficiency	Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect...	OMIM:614102
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Angiostrongyliasis	Unusual CNS infection, Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Lymphoma	OMIM:153600
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de...	OMIM:606482
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Autoimmunity, T lymphocytopenia, Anemia, Thrombocytopeni...	ORPHA:169079
Myeloma, Multiple	Paraproteinemia, Multiple myeloma	OMIM:254500
Trichothiodystrophy 3, Photosensitive	Neoplasm of the skin, Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Increased circu...	OMIM:616395
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Protein-losing enteropathy, Diarrhea, Hematochezia, Vomitin...	ORPHA:2070
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Inflammatory Pseudotumor Of The Liver	Vomiting, Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B vi...	ORPHA:90003
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemi...	OMIM:601457
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhe...	OMIM:614069
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Sepsis, Diarrhea, Hepatitis, Vomiting, Abnormal bleeding, Lymphopeni...	ORPHA:319218
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert...	OMIM:603552
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Invasive...	ORPHA:1163
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Chilblains, Increased circulating antibody level, Recurrent lower respira...	OMIM:615846
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis	ORPHA:97332
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Null Syndrome	Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Peripheral demyelination, Pro...	ORPHA:280234
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Gait at...	OMIM:614877
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis...	OMIM:601495
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag...	ORPHA:2585
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ...	OMIM:182815
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per...	ORPHA:343
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos...	ORPHA:158057
Acute Peripheral Arterial Occlusion	Paralysis, Leukocytosis	ORPHA:90064
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Paralysis, Per...	OMIM:605285
Kimura Disease	Increased circulating IgE level, Eosinophilia, Abnormal salivary gland morphology	ORPHA:482
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Vomiting, Reduced natura...	OMIM:619510
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Impaired Ig class switch recombination, Recurrent infection of th...	OMIM:608184
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ...	OMIM:256500
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis, Hemolytic anemia	OMIM:612740
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Abnormal pyramidal sign, Leukodystrophy	DECIPHER:59
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Chronic oral candidiasis, Neu...	OMIM:150550
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Chronic constipation, Rectal prolapse, Epi...	ORPHA:209964
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Immunodeficiency 104	Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Failure to thriv...	OMIM:608971
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal...	OMIM:618935
Masp2 Deficiency	Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis, Systemic l...	OMIM:613791
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination, Vocal cord paralysis	OMIM:162500
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy...	OMIM:606483
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Spasticity, Peripheral demyelination, Chorea, Rigidity, Abnormality of extrapyramidal motor funct...	OMIM:617672
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections...	ORPHA:319552
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neu...	ORPHA:101097
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Zygomycosis	Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis...	ORPHA:73263
Immunodeficiency 62	Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Decreased c...	OMIM:618459
Krabbe Disease	Optic atrophy, Progressive spasticity, Peripheral demyelination, CNS demyelination, Hypertonia, D...	OMIM:245200
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy	OMIM:618973
Diarrhea 10, Protein-Losing Enteropathy Type	Low-set ears, Protein-losing enteropathy, Recurrent upper respiratory tract infections, Hematoche...	OMIM:618183
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Gait ataxia, Ataxia, Segmental peripheral demyelination/remyelination...	OMIM:601098
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Spinocerebellar Ataxia Type 43	Limb ataxia, Cogwheel rigidity, Gait ataxia, Peripheral axonal neuropathy, Decreased number of la...	ORPHA:497764
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Bronchiectasis, ...	OMIM:620282
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene...	OMIM:214400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Spasticity, Axonal degeneration/regeneration, Tremor, Decreased number of peripher...	OMIM:609260
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Sepsis, Chorea, Hemiplegia/hemiparesis, Thrombocytopenia, Neutropenia, Anemia, Cho...	ORPHA:289916
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Hand tremor, Peripheral demyelination, Babinski sign, Frequent falls, Onion bulb formation	OMIM:618279
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Diarrhea, Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, In...	OMIM:617099
Hypertrophic Neuropathy Of Dejerine-Sottas	Hypertrophic nerve changes, Tongue fasciculations, Peripheral demyelination, Myelin tomacula, Dec...	OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n...	OMIM:118200
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte prolifera...	ORPHA:83471
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Type I diabetes mellitus, Eczematoid dermatitis, Ce...	OMIM:615952
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Increased circulating IgE level, Villous atrophy, Duodenitis, Pustule, Erythroderma,...	OMIM:614328
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhea, Protract...	OMIM:615758
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Vocal cord paresis, Axonal degeneration/regeneration, Decreased number of peripheral myelinated n...	OMIM:607706
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec...	OMIM:618204
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Rheumatoid facto...	ORPHA:91139
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Lymphoproliferative Syndrome 3	Lymphoproliferative disorder, Partial absence of specific antibody response to tetanus vaccine, D...	OMIM:618261
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent...	OMIM:300755
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc...	ORPHA:552
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormality of tumor necrosis factor secretion, S...	ORPHA:178320
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Cholestasis, Hyperbilirubinemia, Granulomatous cholangitis, ...	ORPHA:562639
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha...	OMIM:147060
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t...	OMIM:618108
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat...	OMIM:615895
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe...	OMIM:118210
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Hodgkin lymp...	OMIM:613011
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity...	ORPHA:2902
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia...	OMIM:615387
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Autosomal Dominant Severe Congenital Neutropenia	Recurrent viral infections, Aplastic anemia, Lymphopenia, Recurrent infection of the gastrointest...	ORPHA:486
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti...	OMIM:618213
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Sepsis, Hypotension, Abnor...	ORPHA:70578
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, Hypertonia, Slu...	ORPHA:2386
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:911
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Peripheral demyelination, Gait ataxia, Babinski sign, CNS demyelination, Spastic tetraparesis	OMIM:249900
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev...	ORPHA:449432
Glut1 Deficiency Syndrome 1	Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis	OMIM:606777
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per...	OMIM:118220
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ...	OMIM:617744
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Autosomal Spastic Paraplegia Type 58	Spasticity, Frequent falls, Fasciculations, Peripheral demyelination, Chorea, Gait ataxia, Dysmet...	ORPHA:397946
Netherton Syndrome	Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE level, Malabso...	ORPHA:634
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurrent bacterial in...	OMIM:603585
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Recurrent pneumonia, Inflammation of the large intest...	OMIM:617718
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Spastic paraplegia, Peripheral axonal neuropathy, Babinski sign, Lower limb spasti...	OMIM:615035
Radiation Proctitis	Hematochezia, Arteritis, Sepsis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstr...	ORPHA:70475
Purine Nucleoside Phosphorylase Deficiency	Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased lymphocyte pr...	OMIM:613179
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Diarrhea, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otiti...	OMIM:307200
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Chronic otitis media, Recurrent...	OMIM:618131
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren...	OMIM:614878
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci...	ORPHA:3243
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic anemia, Chr...	OMIM:256040
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Axonal regeneration, Peripheral demyelination, Onion bulb formation	OMIM:615185
Hyperinsulinemic Hypoglycemia, Familial, 2	Pancreatic islet-cell hyperplasia, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:601820
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Leukocytosis, Anemia, Elevated circulating C-reactive protein concentration, Ulc...	OMIM:619398
Hereditary Butyrylcholinesterase Deficiency	Paralysis, Chronic infection	ORPHA:132
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Hemophagocytic Syndrome Associated With An Infection	Ataxia, Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Inva...	ORPHA:158048
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anem...	ORPHA:88
Abetalipoproteinemia	Peripheral demyelination, Acanthocytosis, CNS demyelination, Ataxia	OMIM:200100
Igg4-Related Thyroid Disease	Graves disease, Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Increased circu...	ORPHA:64744
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Malabsorption, Eosinop...	OMIM:615508
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula...	ORPHA:391487
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axon...	OMIM:601596
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Peripheral demyelination, Ataxia	OMIM:616684
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Palmoplantar hyperhidrosis, Erythroderma	OMIM:270300
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia, Ataxia	OMIM:616949
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Slowed Nerve Conduction Velocity, Autosomal Dominant	Peripheral demyelination, Onion bulb formation	OMIM:608236
Hermansky-Pudlak Syndrome 2	Low-set ears, Periodontitis, Enlarged platelet dense granules, Recurrent otitis media, Hepatosple...	OMIM:608233
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Abdominal pain, Hypoproteinemia, Opportunistic infection, Hypoc...	ORPHA:90362
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Methionine Adenosyltransferase I/Iii Deficiency	Peripheral demyelination, CNS demyelination	OMIM:250850
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr...	OMIM:617475
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Cryptorchidism, Hypogonadism	ORPHA:3409
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes...	OMIM:208250
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level	OMIM:618856
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, Abnormalit...	ORPHA:542592
Autosomal Agammaglobulinemia	Sepsis, Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Meningitis, Recurrent ...	ORPHA:33110
Immunodeficiency 96	Decreased circulating IgG level, Recurrent otitis media, Decreased circulating IgA level, Defecti...	OMIM:619774
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Recurrent respiratory infections, Lymphoma, Increased circulating IgE leve...	ORPHA:2314
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Hematuria, Pulmonary edema, Glomerulonephritis, Tubulointerstit...	ORPHA:340
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration	OMIM:607791
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:79230
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Autoimmunity, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation	OMIM:311070
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormal salivary gland morphology, Abnormal optic nerve mo...	ORPHA:79078
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Increased circulating interleukin ...	OMIM:620514
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral demyelination, Chorea, Axonal degeneration, Peripheral hypomyelination, Babinski sign,...	OMIM:604168
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Transient Neonatal Diabetes Mellitus	Macroglossia, Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes me...	ORPHA:99886
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis	ORPHA:90368
C3 Glomerulopathy	Paraproteinemia, Elevated circulating creatinine concentration, Central serous chorioretinopathy,...	ORPHA:329918
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr...	OMIM:600802
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Peripheral axonal neuropathy, Paralysis	OMIM:613710
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest...	ORPHA:90363
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody posit...	OMIM:620376
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia	OMIM:620443
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul...	OMIM:608340
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent viral infections, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Rectova...	ORPHA:35078
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C...	ORPHA:160148
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Vocal cord paralysis, Peripheral hypomyelination	OMIM:616287
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin...	OMIM:175500
Bloom Syndrome	Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Abscess, Abnor...	ORPHA:125
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607677
Lead Poisoning	Abnormality of humoral immunity, Vomiting, Abdominal distention, Imbalanced hemoglobin synthesis,...	ORPHA:330015
Boutonneuse Fever	Diarrhea, Elevated circulating hepatic transaminase concentration, Leukopenia, Skin rash, Maculop...	ORPHA:83313
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607731
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination	OMIM:605253
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Esophagea...	OMIM:615468
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceridemia, Hepatomegaly, Acute pan...	OMIM:608600
Immunodeficiency 9	Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Recurrent...	OMIM:612782
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Peripheral demyelination, Myoclonus, Babinski sign, Apraxia, Axonal loss	OMIM:221770
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Inflammation of the large intestine, Elevated circulating hepatic transaminase con...	OMIM:614576
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Aicardi-Goutieres Syndrome 6	Leukodystrophy, Splenomegaly, Tremor, Rigidity, Increased circulating Interferon-alpha concentrat...	OMIM:615010
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Decreased lymphocyte proliferatio...	OMIM:615122
Wolfram Syndrome, Mitochondrial Form	Optic atrophy, Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
Xq28 (MECP2) duplication	Gastroesophageal reflux, Decreased circulating IgA level, Feeding difficulties in infancy, Consti...	DECIPHER:45
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infectio...	OMIM:618116
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233710
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel...	OMIM:609311
Chediak-Higashi Syndrome	Ataxia, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Recurrent ...	OMIM:214500
Adult Krabbe Disease	Spasticity, Tetraparesis, Progressive spastic paraparesis, Hemiplegia, Peripheral demyelination, ...	ORPHA:206448
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Pigmentary retinopathy, Type II diabetes mellitus, Retinal degeneration	OMIM:520000
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Babinski sign, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral...	OMIM:620542
Spinocerebellar Ataxia Type 25	Gait ataxia, Babinski sign, Decreased number of large peripheral myelinated nerve fibers, Spastic...	ORPHA:101111
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, T lymphocytopenia, B-cel...	OMIM:619164
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia, Diarrhea, Malabsorption, Subarachnoid hemorrhage	OMIM:277175
Transcobalamin Ii Deficiency	Ataxia, Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocyti...	OMIM:275350
Donohue Syndrome	Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Cholestasis, Hyperglycemia, Hyp...	OMIM:246200
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Episodic hyperhidrosis, Hyperinsu...	ORPHA:276575
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233690
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Mitchell-Riley Syndrome	Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I...	OMIM:615710
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur...	ORPHA:47612
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Lack of bowel sounds, Right ventricular failure, Melena, Tenesmus, Hyp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Lack of bowel sounds, Right ventricular failure, Melena, Tenesmus, Hyp...	ORPHA:100082
Juvenile Polyposis Of Infancy	Low-set ears, Protein-losing enteropathy, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrh...	ORPHA:79076
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Peripheral demyelination	ORPHA:2932
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept...	OMIM:203300
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre...	ORPHA:167
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Prostatitis, Abnormality of the anterior pituitary, Elevated cir...	ORPHA:449563
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Episodic hyperhidrosis, Hyperinsu...	ORPHA:276580
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Agammaglobulinemia, Thrombocytopenia, Neutropenia, Anemia, Meningiti...	ORPHA:47
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m...	OMIM:619381
Pelger-Huet Anomaly	Giant platelets, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Thrombocytopenia,...	OMIM:169400
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os...	ORPHA:1416
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Low-set ears, Hematochezia, Peripheral pulmonary artery stenosis, High, narrow palate, Recurrent ...	OMIM:619575
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Charcot-Marie-Tooth Disease, Type 4J	Axonal loss, Frequent falls, Onion bulb formation, Peripheral hypomyelination	OMIM:611228
Neonatal Alloimmune Neutropenia	Meningitis, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration	OMIM:607736
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Decreased circulating IgA level, Pa...	OMIM:613385
Rabies	Vocal cord paresis, Cerebral palsy, Recurrent pharyngitis	ORPHA:770
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency, Hyperglycemia, Elevated ...	OMIM:609812
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Vomiting, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lym...	OMIM:617780
Multiple Myeloma	Functional abnormality of the gastrointestinal tract, Elevated circulating creatinine concentrati...	ORPHA:29073
Neuromyelitis Optica Spectrum Disorder	Peripheral demyelination, Paraplegia	ORPHA:71211
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca	OMIM:270150
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g...	ORPHA:263665
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Recurrent infections, Neutropenia	OMIM:617056
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Optic disc pallor, Retinal thinning	OMIM:618970
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Choreoathetosis	ORPHA:79312
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Leukocytosis, Otitis media, Skin rash, Increased cir...	ORPHA:3392
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Charcot-Marie-Tooth Disease, Type 4B2	Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip...	OMIM:604563
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Reticular Dysgenesis	Sepsis, Recurrent respiratory infections, Leukopenia, Anemia, Abnormality of neutrophils, Decreas...	ORPHA:33355
Papa Syndrome	Type I diabetes mellitus, Crohn's disease, Increased inflammatory response, Increased circulating...	ORPHA:69126
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb...	OMIM:605588
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Arthritis, Thrombocytosis, Elevated circulat...	OMIM:604416
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Zika Virus Disease	Myelitis, Vomiting, Optic disc hypoplasia, Retinal pigment epithelial mottling, Skin rash, Maculo...	ORPHA:448237
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, Abnormal ...	OMIM:208900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,...	ORPHA:85435
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Episodic hyperhidrosis, Recurrent hypoglycemia, Hypoketotic...	ORPHA:276556
Rift Valley Fever	Macular edema, Elevated circulating hepatic transaminase concentration, Severe viral infection, H...	ORPHA:319251
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile ...	ORPHA:811
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Tick-Borne Encephalitis	Unusual CNS infection, Tongue fasciculations, Incoordination, Speech apraxia, Leukopenia, Abnorma...	ORPHA:297
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Sepsis In Premature Infants	Diarrhea, Neutropenia, Abdominal distention, Hepatomegaly, Elevated circulating C-reactive protei...	ORPHA:90051
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Elevated circulating as...	OMIM:170100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic...	OMIM:617087
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Spasticity, Infection associated neutropenia, Myoclonus, Abnormality...	ORPHA:445038
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti...	ORPHA:231154
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Hepatomegaly	ORPHA:100024
Lethal Congenital Contracture Syndrome 7	Paralysis, Facial diplegia	OMIM:616286
Immunodeficiency 56	Recurrent pneumonia, Hepatic failure, Pneumocystis jirovecii pneumonia, Recurrent respiratory inf...	OMIM:615207
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Hypertonia, Neutropenia	ORPHA:79477
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Diarrhea, Recurrent respiratory infections, Abnormal lymphocyte morphology, Ma...	ORPHA:229717
Necrotizing Enterocolitis	Diarrhea, Vomiting, Hypoactive bowel sounds, Hyperglycemia, Leukocytosis, Abnormal glucose homeos...	ORPHA:391673
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Posterior Column Ataxia With Retinitis Pigmentosa	Ataxia, Optic atrophy, Peripheral demyelination, Recurrent urinary tract infections	OMIM:609033
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention	ORPHA:103910
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Vocal cord paralysis, Tremor	OMIM:158580
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy	ORPHA:99953
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea...	OMIM:615190
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Anoperinea...	OMIM:301074
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Increased circulating ferritin concentration, Decreased serum te...	ORPHA:465508
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Whim Syndrome	Lymphadenitis, Lymphopenia, Neutropenia, Meningitis, Cutaneous melanoma, Otitis media, Papilloma,...	ORPHA:51636
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination	ORPHA:99944
Neuropathy, Congenital Hypomyelinating, 2	Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers	OMIM:618184
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Paralysis, Parkinsonism	OMIM:105500
Type 1 Diabetes Mellitus	Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus, Autoimmunity	OMIM:222100
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Axonal regeneration, Onion bulb formation	OMIM:608323
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia...	ORPHA:1304
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Severe viral infection, Hepatosplenomegaly, ...	OMIM:619644
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Decreased circulating total IgG, Diarrhea, Decreased lymphocyte proli...	ORPHA:221139
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:306400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Hand tremor, Incoordination, Dysmetria, Axonal degeneration, Decreased number of peripheral myeli...	OMIM:302800
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,...	OMIM:613327
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Delayed myelination	OMIM:614520
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Neutropenia, Ataxia	OMIM:620012
Alg12-Cdg	Recurrent hypoglycemia, Abnormal circulating IgG level, Cryptorchidism, Retinal detachment, Recur...	ORPHA:79324
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Juvenile Polyposis Syndrome	Low-set ears, Abnormal onset of bleeding, Diarrhea, Colon cancer, Stomach cancer, Juvenile gastro...	ORPHA:2929
Interstitial Lung Disease 2	Cirrhosis, Alveolar cell carcinoma, Increased circulating antibody level	OMIM:178500
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Peripheral axonal atrophy, Fasciculations, Axonal degeneration/regeneration, Decreased number of ...	OMIM:600882
Schnitzler Syndrome	Lymphoma, Leukocytosis, Skin rash, Splenomegaly, Anemia, Arthritis, Hepatomegaly, Increased circu...	ORPHA:37748
Immunodeficiency 69	Hemophagocytosis, BCGitis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, BCGosis,...	OMIM:618963
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly...	OMIM:617303
Trichinellosis	Abnormal optic nerve morphology, Increased circulating IgE level, Central retinal artery occlusio...	ORPHA:863
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Hepatic failure, Diarrhea, Hepatitis, Splenomegaly, Prolonged prothrombin time, Ach...	OMIM:613812
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Cyclic Neutropenia	Sepsis, Recurrent tonsillitis, Opportunistic infection, Lymphopenia, Cyclic neutropenia, Perianal...	ORPHA:2686
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter...	OMIM:301220
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Basal cell carcinoma, Gastroesophageal reflux, Oral leukoplakia,...	OMIM:620040
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Axonal loss, Paralysis, Athetosis	OMIM:300857
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope...	OMIM:603553
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Hereditary Mixed Polyposis Syndrome	Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarci...	ORPHA:157794
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Feeding difficulties, Optic disc pallor, Retrobulbar optic neuritis, Hypergonadotr...	OMIM:619737
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL ch...	ORPHA:470
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Recurrent pneumonia, Spasticity, Leukopenia, Myoclonus, Tremor, Hyperkinetic movements, O...	OMIM:616271
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatic failure, Hematochezia, Prolonged prothrombin time, Fat malabsorption	OMIM:214950
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Absent circulating B cells, Seborrheic dermatitis, Thr...	OMIM:619693
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased...	OMIM:313900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Colitis, Congenital hypothyroidism	ORPHA:88643
Tangier Disease	Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia, Splenomegaly	OMIM:205400
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Neutropenia, Schistoc...	OMIM:301110
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Spasticity, Leukodystrophy, Pseudobulbar paralysis, Babinski sign, Ataxia, Symmetric peripheral d...	OMIM:169500
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Paraproteinemia, High palate, Mildly elevated creatine kinase, Feeding d...	ORPHA:171442
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Sepsis, Volvulus, Malnutrition, Cholestasis, Central hypothyroidism, Malabsor...	ORPHA:95427
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Hematuria, Ery...	ORPHA:99827
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ...	ORPHA:1830
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis,...	OMIM:619573
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hemolytic anemia, Hand tremor	OMIM:609153
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom...	OMIM:614487
Charcot-Marie-Tooth Disease, Type 4B1	Irregular myelin loops, Facial palsy, Myelin outfoldings	OMIM:601382
Japanese Encephalitis	Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Increased circulating antibody level, ...	ORPHA:79139
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype...	OMIM:203800
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a...	ORPHA:781
Variegate Porphyria	Paralysis	OMIM:176200
Cystic Echinococcosis	Cholestatic liver disease, Unusual infection, Peritoneal abscess, Elevated circulating hepatic tr...	ORPHA:400
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto...	OMIM:242900
Congenital Enterovirus Infection	Sepsis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Infectious encephalitis, Neutro...	ORPHA:292
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Lupus anticoagulant, Antinuclear antibody positivity, Ileal ulcer, Thromb...	OMIM:616744
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Hearing impairment, Furrowed t...	OMIM:158310
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Bronchiectasis, Emphysema, Lymphopenia, Decreased circulating antibody lev...	ORPHA:1572
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Low-set ears, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA l...	OMIM:242860
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Facial palsy, Frequent falls, Onion bulb formation	OMIM:607684
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Scedosporiosis	Opportunistic fungal infection, Endocarditis, Pleural empyema, Abnormal jejunum morphology, Unusu...	ORPHA:449280
3-Methylglutaconic Aciduria, Type Viia	Anemia, Delayed CNS myelination, Neutropenia, Anisopoikilocytosis	OMIM:619835
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection...	OMIM:607143
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:618858
Syndromic Diarrhea	Hepatic fibrosis, Intractable diarrhea, Abnormality of iron homeostasis, Panhypogammaglobulinemia...	ORPHA:84064
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis, Leukocytosis, Thrombocytopenia	ORPHA:83601
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat...	OMIM:618806
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive	ORPHA:79099
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Small intestinal po...	ORPHA:329971
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Hematochezia	ORPHA:79095
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Acute kidney injury, Diarrhea, Hypotension, Incre...	ORPHA:542323
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi...	OMIM:174900
Monosomy 13Q34	Hematochezia, Epistaxis, Abnormal earlobe morphology, Posteriorly rotated ears, Prolonged prothro...	ORPHA:96168
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Spasticity, Poor coordination, Megaloblastic anemia, Neutropenia	OMIM:250940
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination	OMIM:616733
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine, Diabetes mellitus	ORPHA:46487
Primary Angiitis Of The Central Nervous System	Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia	ORPHA:140989
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Malabsorption, Neonata...	OMIM:152800
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Ataxia, Spasticity, Spastic paraparesis, Hepatosplenomegaly, Peripheral demyelination, Myoclonus,...	OMIM:609136
Systemic Lupus Erythematosus, Susceptibility To, 6	Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis	OMIM:609939
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Diarrhea, Vomiting, Eczematoid dermatitis, Celiac disease, Elevated cir...	OMIM:212750
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat...	ORPHA:1929
Multiple Sulfatase Deficiency	Spasticity, Peripheral demyelination, Splenomegaly, CNS demyelination, Ataxia	OMIM:272200
Vici Syndrome	Recurrent viral infections, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Neu...	OMIM:242840
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Lymphopenia, Leukopeni...	ORPHA:508542
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Decreased number of peripheral myelinated nerve fibers, Ankle clonus, Babinsk...	OMIM:604360
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Cryptorchidism, Lactose intolerance, Hemangioma, Protuberant abd...	ORPHA:457485
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Mirage Syndrome	Aspiration pneumonia, Lymphopenia, Cryptorchidism, Achalasia, Hyperkalemia, Hypoplastic spleen, G...	OMIM:617053
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Coccidioidomycosis	Morbilliform rash, Abnormality of the spleen, Abscess, Erythema nodosum, Unusual CNS infection, F...	ORPHA:228123
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Abnormal blood...	ORPHA:810
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Increased circulating androge...	ORPHA:769
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia, Anal atresia, Cryptorchidism	OMIM:175700
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Lymphop...	OMIM:612541
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Abnormal optic nerve morphology, Parotitis, Increased circulating IgG4 ...	ORPHA:449427
20Q13.33 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Hematochezia, Hypospadias, Prominent crus of helix	ORPHA:261311
Bardet-Biedl Syndrome 9	Hyperglycemia, Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentat...	OMIM:615986
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp...	OMIM:232220
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Hepatomegaly, Ab...	ORPHA:98848
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Abnormality of the ankle, Autoimmunity, Joint hypermobility, Knee osteoarth...	ORPHA:85410
Turcot Syndrome With Polyposis	Hematochezia, Melena, Diarrhea, Vomiting, Hearing impairment, Adenomatous colonic polyposis, Inte...	ORPHA:99818
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia, Delayed myelinat...	ORPHA:2169
Metachromatic Leukodystrophy	Optic atrophy, Peripheral demyelination, Chorea, Babinski sign, Tetraplegia, Ataxia, Spastic tetr...	OMIM:250100
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Conjunctivitis, Lymphoma, Reduced circulating complement concentration, Autoimmunity, N...	ORPHA:36412
Onychotrichodysplasia And Neutropenia	Recurrent infections, Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Charcot-Marie-Tooth Disease Type 4A	Vocal cord paresis, Chronic axonal neuropathy, Poor gross motor coordination, Demyelinating perip...	ORPHA:99948
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased circulating antibody level	OMIM:619846
Smith-Kingsmore Syndrome	Hypoglycemia, Decreased circulating IgA level, Cryptorchidism, Thrombocytopenia, Feeding difficul...	OMIM:616638
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Vomiting, Elevated circulating creatine kinase concentration, Abdominal pain, High palate, Necrot...	OMIM:616809
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Neoplasm, Auto...	ORPHA:169090
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi...	ORPHA:227982
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Spasticity, Neutropenia	OMIM:618253
Waldenström Macroglobulinemia	Normocytic anemia, Recurrent infections, Monoclonal immunoglobulin M proteinemia, Gingival bleedi...	ORPHA:33226
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Sepsis, Epistaxis, Hematuria, Proteinuria, Hypertension, ...	OMIM:614034
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Chronic infection, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Chorea, Dysmetria, Peripheral hypomyelination, Abnormal pyramidal sign, Ataxia, Intention tremor	ORPHA:48431
Lassa Fever	Diarrhea, Sepsis, Nausea and vomiting, Jaundice, Conjunctivitis, Abdominal pain, Increased circul...	ORPHA:99824
Charcot-Marie-Tooth Disease, Type 4D	Axonal loss, Segmental peripheral demyelination/remyelination, Frequent falls, Onion bulb formation	OMIM:601455
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Good Syndrome	Diarrhea, Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukocyte morph...	ORPHA:169105
Mogs-Cdg	Decreased circulating IgG level, Optic atrophy, Nasogastric tube feeding, Decreased circulating I...	ORPHA:79330
Omenn Syndrome	Pneumonia, Severe B lymphocytopenia, Diarrhea, Recurrent viral infections, Splenomegaly, Hepatome...	OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Skin rash, Splenomegaly, In...	OMIM:617591
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Hepa...	OMIM:201475
Congenital Disorder Of Glycosylation, Type Iib	Optic atrophy, Elevated circulating aspartate aminotransferase concentration, Decreased circulati...	OMIM:606056
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Acquired Aneurysmal Subarachnoid Hemorrhage	Vomiting, Hypopituitarism, Hyperglycemia, Leukocytosis, Hypothyroidism, Hypercholesterolemia, Nausea	ORPHA:90065
Autoimmune Polyendocrinopathy Type 4	Rheumatoid arthritis, Xerostomia, Antiphospholipid antibody positivity, Iridocyclitis, Tubulointe...	ORPHA:227990
Beta-Ketothiolase Deficiency	Vomiting, Diarrhea, Hypoglycemia, Hyperglycemia, Thrombocytosis, Leukocytosis, Hyperammonemia, Hy...	ORPHA:134
Mevalonic Aciduria	Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Fluctuating splenome...	OMIM:610377
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Diarrhea, Vomiting, Glycosuria, Elevated circulating hepatic transaminase concentration, Hypoketo...	ORPHA:263455
Tempi Syndrome	Increased circulating IgG level, Hemangioma, Increased hematocrit, Polycythemia	ORPHA:284227
Pneumocystosis	Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Increased circulati...	ORPHA:723
Barth Syndrome	Recurrent infections in infancy and early childhood, Cyclic neutropenia, Recurrent bronchitis, Hy...	OMIM:302060
Hereditary Neuropathy With Liability To Pressure Palsies	Vocal cord paralysis	ORPHA:640
5-Oxoprolinase Deficiency	Abdominal pain, Vomiting, Diarrhea, Enterocolitis	OMIM:260005
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Ne...	OMIM:614857
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin...	ORPHA:681
Snakebite Envenomation	Respiratory paralysis, Paralysis, Thrombocytopenia, Pseudobulbar paralysis	ORPHA:449285
Charcot-Marie-Tooth Disease Type 2B1	Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax...	ORPHA:98856
Spastic Ataxia, Charlevoix-Saguenay Type	Spasticity, Spastic gait, Progressive truncal ataxia, Upper motor neuron dysfunction, Dysmetria, ...	OMIM:270550
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Chemodectoma, Vocal cord paralysis, Glomus jugular tumor, Glomus tympanicum ...	OMIM:601650
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Vomiting, Elevated circulating hepatic transami...	OMIM:613070
Aicardi-Goutieres Syndrome 5	Spasticity, Increased circulating interferon-gamma concentration, Thrombocytopenia, Leukodystrophy	OMIM:612952
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous...	ORPHA:853
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production	OMIM:614900
Immunodeficiency 17	Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu...	OMIM:615607
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Hypoglycemia, Polysplenia, Increased circulating IgE level, Supernumerary ni...	ORPHA:373
Bacterial Toxic-Shock Syndrome	Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections, Me...	ORPHA:36234
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening...	OMIM:610984
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutrop...	OMIM:613989
Vici Syndrome	Decreased circulating IgG level, Optic atrophy, Recurrent respiratory infections, Abnormal macula...	ORPHA:1493
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Propionic Acidemia	Pancytopenia, Limb hypertonia, Thrombocytopenia, Neutropenia, Anemia	OMIM:606054
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Ataxia, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers	OMIM:607250
Caffey Disease	Feeding difficulties in infancy, Increased circulating antibody level	ORPHA:1310
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:3226
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran...	ORPHA:2088
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Diarrhea, Vomiting, Elevated ...	OMIM:212065
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Retinal degeneration, Hepatomegaly, Vacuolated lymphocytes, Recurrent bacterial inf...	OMIM:248500
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Peptic ulcer, Increased urinary cortisol lev...	ORPHA:913
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Immunodeficiency 55	Lymphopenia, Recurrent infections, Absent natural killer cells, Neutropenia	OMIM:617827
Riddle Syndrome	Enuresis nocturna, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infectio...	ORPHA:420741
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Involuntary movements, Sensory axonal neuropathy, Babinski sign, Clumsiness, Ataxi...	OMIM:271245
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Optic atrophy, Decreased circulating IgA le...	OMIM:612301
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Polycythemia, Facial telangiectasia...	OMIM:600376
Acquired Von Willebrand Syndrome	Normocytic anemia, Aortic valve stenosis, Aortic regurgitation, Hypochromic anemia, Gastrointesti...	ORPHA:99147
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Delayed CNS myelination, Thrombocytopenia, Neutropenia	OMIM:251000
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c...	OMIM:187300
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Spastic paraplegia, Peripheral demyelination, Dysmetria, Ankle clonus, Babinski si...	ORPHA:171629
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Leukodystrophy, Delayed CNS myelination, Neutropenia, Ataxia, Recurrent infections, Choreoathetosis	OMIM:615471
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Lymphoma...	OMIM:210900
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Malar rash, Antiphospholipid antibody positivity, Antinu...	OMIM:152700
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Sensory axonal neuropathy, Hand tremor, Postural tremor, Babinski sign, Vocal cord...	ORPHA:99947
Cranio-Osteoarthropathy	Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of...	ORPHA:1525
Familial Cervical Artery Dissection	Paralysis, Facial palsy	ORPHA:36382
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces...	ORPHA:411696
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Delayed CNS myelination, Splenomegaly, Neutropenia	OMIM:617050
Caroli Syndrome	Hepatic failure, Sepsis, Melena, Abnormal bleeding, Hypersplenism, Leukopenia, Leukocytosis, Port...	ORPHA:480520
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers	OMIM:615376
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level	OMIM:103900
Trichothiodystrophy 5, Nonphotosensitive	Chronic decreased circulating IgG1, Panhypopituitarism, Decreased testicular size, Recurrent infe...	OMIM:300953
Poikiloderma With Neutropenia	Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Neutr...	OMIM:604173
Dyskeratosis Congenita, Autosomal Dominant 3	Ataxia, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia...	OMIM:613990
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Polycystic ovari...	ORPHA:79259
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis...	OMIM:614602
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Aspiration pneumonia, Gastrostomy tube feeding in infancy, Nasogastric tube feeding...	ORPHA:141152
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Highly elevat...	OMIM:251900
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Autoimmunity, Bladder neoplasm	ORPHA:46488
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Increased circulating antibody le...	ORPHA:85443
Myasthenic Syndrome, Congenital, 16	Periodic paralysis	OMIM:614198
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Chorea, Limb ataxia, Gait ataxia, Tremor, Axonal degeneration, Peripheral axonal degeneration, Oc...	OMIM:208920
Interstitial Cystitis	Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre...	ORPHA:37202
Spondyloenchondrodysplasia With Immune Dysregulation	Spasticity, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurrent sinusitis, Progress...	OMIM:607944
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Lympho...	ORPHA:1667
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Vomiting, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic fa...	OMIM:615453
Cohen Syndrome	Optic atrophy, Leukopenia, Neutropenia	OMIM:216550
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Incoordination, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia, Recurr...	OMIM:277380
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, Decreased number of peri...	OMIM:615490
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Micronodular...	ORPHA:139507
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Sensorineural hearing impairment, Aspiration pneumonia	OMIM:609528
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Optic atrophy, Peripheral demyelination, Megaloblastic anemia, Thrombocytopenia, Neutrope...	ORPHA:79282
Cartilage-Hair Hypoplasia	Lymphopenia, Susceptibility to chickenpox, Macrocytic anemia, Impaired lymphocyte transformation ...	OMIM:250250
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Recurrent otitis media, Macrocytic anemia, Neutropenia, Recurr...	OMIM:612562
Vertical Talus, Congenital	Arthritis	OMIM:192950
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis, Hemolytic anemia	OMIM:612300
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II...	OMIM:273800
Omenn Syndrome	Pneumonia, Sepsis, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Eryt...	ORPHA:39041
Dubowitz Syndrome	Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insuffi...	OMIM:223370
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter...	OMIM:116920
Microlissencephaly	Pneumonia	ORPHA:1083
Revesz Syndrome	Bone marrow hypocellularity, Aplastic anemia, Macrocytic anemia, Neutropenia, Ataxia, Hypertonia,...	OMIM:268130
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, CNS hypomyelination, Leukodystrophy, Intention tremor, Babinski sign, Abnorma...	OMIM:610532
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increas...	ORPHA:77259
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Hepatic fibrosis, Elevated circulating hepatic...	OMIM:620005
Methylmalonic Aciduria, Cblb Type	Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Elevated ci...	OMIM:251110
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent viral infections, Recurrent hypoglycemia, Recurrent otitis media, Psoriasiform dermatit...	ORPHA:293978
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Diarrhea, Elevated circulating hepatic transaminase concentration, Bloody diarrh...	ORPHA:67
Leigh Syndrome	Optic atrophy, Spasticity, Involuntary movements, Sensory axonal neuropathy, Severe viral infecti...	ORPHA:506
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Spinocerebellar Ataxia 25	Ataxia, Babinski sign, Oculomotor apraxia, Decreased number of peripheral myelinated nerve fibers	OMIM:608703
Trigeminal Neuralgia	Peripheral demyelination, CNS demyelination, Cranial nerve compression	ORPHA:221091
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemia, Neutrophili...	ORPHA:98849
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Facial diplegia, Axonal degeneration/regeneration, Tremor, Peripheral axonal neuropathy, Limb tre...	OMIM:218000
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, ...	ORPHA:85414
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia, Optic nerve hypoplasia	OMIM:609053
Ménétrier Disease	Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Glanzmann Thrombasthenia	Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi...	ORPHA:849
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertensio...	ORPHA:440713
Mahvash Disease	Type II diabetes mellitus, Abdominal pain, Recurrent pancreatitis, Pancreatic alpha-cell hyperpla...	OMIM:619290
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607831
Trichothiodystrophy	Spasticity, Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Gait a...	ORPHA:33364
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Progressive spastic paraplegia, Decreased number of peripheral myelinated nerve fi...	ORPHA:320406
Immunodeficiency 108 With Autoinflammation	Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuc...	OMIM:260570
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Ovar...	OMIM:269880
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insuff...	ORPHA:2905
Alveolar Echinococcosis	Vomiting, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp...	ORPHA:284
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Microangiopathic hemolytic anemia, Unconjugated hyperbilirubinemia, Abdominal pain, Dys...	ORPHA:90038
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Onion bulb formation	OMIM:614455
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level, Myelodysplasia	OMIM:619767
Charcot-Marie-Tooth Disease, Type 4B3	Onion bulb formation, Myelin outfoldings	OMIM:615284
Yellow Fever	Diarrhea, Vomiting, Opportunistic infection, Pancreatic hyperplasia, Elevated circulating asparta...	ORPHA:99829
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Anemia, Diabetes mell...	OMIM:609069
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ...	ORPHA:2089
Mast Cell Sarcoma	Hepatomegaly, Mastocytosis, Sarcoma, Splenomegaly	ORPHA:66661
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Vomiting, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamat...	ORPHA:3008
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:69665
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Avian Influenza	Pneumonia, Acute kidney injury, Sepsis, Myelitis, Hepatitis, Diarrhea, Vomiting, Congestive heart...	ORPHA:454836
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Hype...	OMIM:151660
Encephalitis Lethargica	Recurrent viral infections, Bowel incontinence, Autoimmunity, Increased circulating antibody level	ORPHA:83600
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul...	OMIM:615954
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I...	OMIM:618462
Myotonic Dystrophy 2	Decreased circulating IgG level, Insulin insensitivity, Hypogonadism, Type II diabetes mellitus, ...	OMIM:602668
Desmoid Tumor	Gastrointestinal hemorrhage, Sepsis, Malabsorption, Intestinal polyposis, Intestinal obstruction,...	ORPHA:873
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Sepsis, Shock, Leukopenia, Leukocytosis, Pleural effusion, Severe infecti...	ORPHA:36238
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Neuroendocrine Tumor Of Stomach	Hepatic failure, Hypotension, Right ventricular failure, Lack of bowel sounds, Melena, Protracted...	ORPHA:100075
Pseudomyxoma Peritonei	Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A...	ORPHA:26790
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Low-set, post...	ORPHA:30
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegal...	OMIM:612840
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a...	OMIM:106300
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Peripheral axonal neuropathy	ORPHA:101082
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Abnormality of the kidney, Unusual CNS infec...	ORPHA:228119
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c, Vomiting	ORPHA:79134
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Recurrent viral infections, Hepatosplenomegaly, Hepatic cysts, Colonic eosinop...	OMIM:618999
Methylmalonic Acidemia With Homocystinuria Type Cblf	Recurrent infections, Megaloblastic anemia, Neutropenia	ORPHA:79284
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve...	ORPHA:99826
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Hematuria, Persistent...	OMIM:306900
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s...	ORPHA:2198
Rheumatoid Arthritis	Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo...	OMIM:180300
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Intrahepatic cholestasis, Hypouricemia, Glycosuria, Elevated circulat...	OMIM:227810
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Glycosuria	OMIM:618857
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Hyperl...	OMIM:608612
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Myocardial infarction, Recurrent lower respiratory tract ...	ORPHA:60033
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Abnormal intestine morpho...	ORPHA:228426
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Gastrointestinal carcinoma, Hematochezia, Mitral regurgitation, Juvenile gastrointesti...	OMIM:175050
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte...	OMIM:619079
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Vomiting, Fasciitis,...	ORPHA:39812
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Ganglioneuroblastoma, Increased circulating prolactin concentration, Hyperg...	ORPHA:293987
Molybdenum Cofactor Deficiency, Type B	Peripheral demyelination, Opisthotonus, Hypertonia, Myoclonic spasms, Axonal loss, Spastic tetrap...	OMIM:252160
Spinocerebellar Ataxia Type 3	Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par...	ORPHA:98757
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr...	OMIM:231200
Glutaric Acidemia I	Symmetrical progressive peripheral demyelination, Rigidity, Opisthotonus, Delayed myelination, Ch...	OMIM:231670
Immunodeficiency 31C	Diarrhea, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Gastrointestin...	OMIM:614162
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti...	OMIM:613960
Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Sensorineural hearing impairment, Hematuria, Arrhyth...	ORPHA:900
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal...	ORPHA:85450
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Tremor, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:93111
Molybdenum Cofactor Deficiency, Type A	Peripheral demyelination, Opisthotonus, Myoclonic spasms, Axonal loss, Spastic tetraparesis, Spas...	OMIM:252150
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Alopecia Totalis	Type I diabetes mellitus, Inflammation of the large intestine, Autoimmunity	ORPHA:700
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
X-Linked Centronuclear Myopathy	Pneumonia, Feeding difficulties in infancy, High palate, Recurrent respiratory infections, Poor suck	ORPHA:596
Hemophilia A	Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b...	OMIM:306700
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Evans Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Mohr-Tranebjaerg Syndrome	Prelingual sensorineural hearing impairment, Aspiration pneumonia, Sensorineural hearing impairme...	ORPHA:52368
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Retinal vasculitis, Anorexia, Elevated circulati...	ORPHA:91500
Machado-Joseph Disease Type 3	Spasticity, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morphology,...	ORPHA:276244
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, R...	ORPHA:99885
Scorpion Envenomation	Vomiting, Diarrhea, Glycosuria, Hyperglycemia, Elevated circulating aspartate aminotransferase co...	ORPHA:466677
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Gait ataxia	ORPHA:90103
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis, Enterocutaneous ...	OMIM:612567
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia, Recurrent infections	OMIM:617941
Late-Onset Isolated Acth Deficiency	Diarrhea, Nausea and vomiting, Anorexia, Hypoparathyroidism, Celiac disease, Abdominal pain, Pitu...	ORPHA:199299
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Aspiration pneumonia, Abnormal gastrointestinal tract morpho...	ORPHA:1018
Nijmegen Breakage Syndrome	Recurrent pneumonia, Diarrhea, Anal stenosis, Recurrent urinary tract infections, Recurrent otiti...	OMIM:251260
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Abnorm...	ORPHA:2869
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Progressive spastic paraplegia, Delayed peripheral myelination, Lower limb spasticity...	ORPHA:464282
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Enterocolitis, Decreased pineal volume	OMIM:301108
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy	ORPHA:230800
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver...	ORPHA:54251
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o...	ORPHA:85408
Alpha-Mannosidosis, Adult Form	Pneumonia, Aortic regurgitation, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Recurrent ...	ORPHA:309288
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Abnormal pulmonary interstitial morphology, Ski...	ORPHA:99745
Viss Syndrome	Increased circulating IgE level, Exostosis of the external auditory canal, Cleft soft palate, Chr...	OMIM:619472
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Melioidosis	Pneumonia, Sepsis, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatitis, Parotitis, Ab...	ORPHA:31202
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Optic atrophy, Macular degeneration, Eczematoid dermatitis, Hypo...	ORPHA:3132
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel...	OMIM:181000
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o...	ORPHA:66628
X-Linked Adrenoleukodystrophy	Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis	ORPHA:43
Scleromyxedema	Gastroesophageal reflux, Paraproteinemia, Elevated circulating creatine kinase concentration, Abn...	ORPHA:167635
Microscopic Polyangiitis	Diarrhea, Nausea and vomiting, Hematuria, Arrhythmia, Abdominal pain, Vasculitis, Gastrointestina...	ORPHA:727
Neuropathy, Hereditary Sensory, Type Ie	Ataxia, Decreased number of peripheral myelinated nerve fibers	OMIM:614116
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Graves disease, Hypomagnesemia, Constipation, T...	ORPHA:79102
Neuroendocrine Tumor Of The Colon	Hypotension, Lack of bowel sounds, Right ventricular failure, Melena, Hypoactive bowel sounds, Pr...	ORPHA:100080
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Recurrent respiratory infections, Hepatocellular necro...	OMIM:618278
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis	ORPHA:363558
Mixed Connective Tissue Disease	Nephropathy, Xerostomia, Meningitis, Purpura, Gastrointestinal hemorrhage, Gastroesophageal reflu...	ORPHA:809
Listeriosis	Arteritis, Diarrhea, Hearing impairment, Abscess, Pustule, Abdominal pain, Meningitis, Endocardit...	ORPHA:533
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Tongue fasciculations, Hand tremor, Chronic axonal neuropathy, Decreased number of large peripher...	OMIM:162400
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Recu...	ORPHA:86816
Gm2-Gangliosidosis, Ab Variant	Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet...	OMIM:272750
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hyperlipidemia, Hypercholes...	OMIM:248370
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Recurrent infections, Spasticity, Neurofibroma, Leukodystrophy, Cerebral palsy, Peripheral demyel...	OMIM:619475
Giant Axonal Neuropathy 1, Autosomal Recessive	Spastic paraplegia, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of perip...	OMIM:256850
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o...	ORPHA:179494
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Conductive hearing impairment	ORPHA:85179
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Recur...	OMIM:124000
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in...	ORPHA:85446
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorr...	OMIM:276700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nephropathy, Pneumonia, Sepsis, Gastrointestinal hemorrhage, Cardiomyopathy, S...	ORPHA:247691
Atypical Werner Syndrome	Neoplasm of the skin, Insulin-resistant diabetes mellitus, Neoplasm of the oral cavity, Hyperglyc...	ORPHA:79474
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis, Reduced erythrocyte porphobilinogen deaminase activity	OMIM:176000
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Recurrent lower respiratory tract infections, Neutropenia	OMIM:618005
Timothy Syndrome	Pneumonia, Atrioventricular block, Bronchitis, Pulmonary arterial hypertension, Ventricular tachy...	OMIM:601005
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in...	ORPHA:3260
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Sepsis, Abnormality of the urethra, Diarrhea, Recurrent respiratory ...	ORPHA:36426
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Multiple r...	ORPHA:2924
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Hypogonadism, Malabsorption, Intestinal obstruction, Squamous ce...	OMIM:601675
Focal Facial Dermal Dysplasia Type Iv	Hemangioma, Cleft palate, Abnormal mast cell morphology	ORPHA:398189
Rigid Spine Syndrome	Pneumonia, Cardiac conduction abnormality	ORPHA:97244
Glycogen Storage Disease Ic	Recurrent upper respiratory tract infections, Inflammation of the large intestine, Hypoglycemia, ...	OMIM:232240
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Neutropenia, Ataxia, Athetoi...	OMIM:617799
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan...	ORPHA:324964
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Portal hypertension, S...	ORPHA:64743
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Or...	ORPHA:98870
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocyt...	OMIM:620423
Cleft Velum	Nasal regurgitation, Conductive hearing impairment, Oral-pharyngeal dysphagia, Aspiration pneumon...	ORPHA:99772
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Sepsis, Abnormality of the urethra, Acute hepatic failure, Abnormal ...	ORPHA:537
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr...	ORPHA:79329
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma...	ORPHA:85436
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Recurrent candida infections	OMIM:201100
Cole Disease	Abnormal blood phosphate concentration, Hyperglycemia	OMIM:615522
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen...	OMIM:557000
Peho Syndrome	Peripheral dysmyelination, Optic atrophy, Myoclonus	OMIM:260565
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	ORPHA:1302
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Knee clonus, Ankle clonus, Clumsiness, Vocal cord paralysis, Ataxia, Trunc...	OMIM:211530
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Chemodectoma, Carotid paraganglioma, Adrenal pheochromocytoma, Vocal cord pa...	OMIM:168000
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Chronic i...	ORPHA:2357
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Abdominal pain,...	ORPHA:563
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Spastic paraparesis, Facial diplegia, Decreased number of peripheral myelinated ne...	ORPHA:254930
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	OMIM:614204
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena	OMIM:619182
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Monosomy 18Q	Secondary growth hormone deficiency, Bilateral cryptorchidism, Decreased circulating IgA level, A...	ORPHA:1600
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Megarectum, Central hypothyroidism, Hyperaldoster...	ORPHA:508
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Tongue tremor, Fascicul...	ORPHA:466768
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Bifid uvula, Hyperphosphatemia, Decreased response to growth hormone stimulation test, Cryptorchi...	OMIM:241410
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradyc...	ORPHA:70587
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis	OMIM:620425
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective production of NFKB1-de...	OMIM:612132
Multiple Endocrine Neoplasia Type 4	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:276152
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Spasticity, Spastic paraparesis, Babinski sign, Lower limb spasticity, Optic neuro...	ORPHA:320375
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Nasogastric tube feeding in infancy, Abnormality of the urinary system, Dysphagia, Aspiration pne...	ORPHA:90117
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Decreased circulating IgG level, Bone marrow hypocellularity, Sepsis, Macrogloss...	ORPHA:505248
Angioma, Hereditary Neurocutaneous	Hematuria, Gastrointestinal hemorrhage	OMIM:106070
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Epistaxis, Bruising ...	ORPHA:324636
Congenital Syphilis	Diarrhea, Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Nephro...	ORPHA:499009
Mounier-Kühn Syndrome	Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis	ORPHA:3347
Aapoaiv Amyloidosis	Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia, Abnormality of th...	ORPHA:439232
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia, Anemia, Congenital hypoparathyroidism, Recurrent bacterial infections	OMIM:244460
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of...	ORPHA:3002
Mitochondrial Neurogastrointestinal Encephalomyopathy	Anemia, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fiber...	ORPHA:298
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Vocal cord paralysis	ORPHA:2375
Foodborne Botulism	Diaphragmatic paralysis, Paralysis, Cerebral palsy	ORPHA:228371
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Precocious puberty, Gastroesophageal reflux, Decreased circulating IgA level...	ORPHA:369837
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ...	ORPHA:274
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou...	OMIM:620133
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Spasticity, Chorea, Gait ataxia, Demyelinating peripheral neuropathy, Ataxia, Hype...	ORPHA:255210
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Machado-Joseph Disease Type 1	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Progressive gait ataxia,...	ORPHA:276241
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Vasculitis, Granuloma, Hepatitis, Pancytopenia, Autoimmune hem...	ORPHA:1855
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Bardet-Biedl Syndrome	Inflammation of the large intestine, Type II diabetes mellitus, Hepatic steatosis, Cryptorchidism...	ORPHA:110
Orotic Aciduria	Impaired T cell function	OMIM:258900
Glioblastoma	Paralysis	ORPHA:360
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep...	ORPHA:99828
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Renal insufficiency, Splen...	ORPHA:91138
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Aortic valve stenosis, Recurrent viral infections, Vomiting, High-frequency he...	OMIM:176690
Leukocyte Adhesion Deficiency Type Ii	Ataxia, Recurrent pneumonia, Recurrent urinary tract infections, Microcytic anemia, Recurrent oti...	ORPHA:99843
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Protruding tongue, Constipation...	OMIM:617062
Poliomyelitis	Fasciculations, Infectious encephalitis, Hyperkinetic movements, Paralysis, Paraparesis, Meningitis	ORPHA:2912
Whipple Disease	Uveitis, Diarrhea, Gastrointestinal hemorrhage, Hypotension, Anorexia, Malabsorption, Splenomegal...	ORPHA:3452
Non-Functioning Paraganglioma	Cranial nerve compression, Tremor, Vocal cord paralysis, Paraganglioma of head and neck, Paragang...	ORPHA:94080
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Urinary incontinence, Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227646
Combined Oxidative Phosphorylation Deficiency 51	Nasogastric tube feeding, Hearing impairment, Aspiration pneumonia	OMIM:619057
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Vocal cord paralysis, Glom...	OMIM:605373
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Acute hepatic failure, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infec...	ORPHA:139402
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Micropha...	OMIM:603467
Charcot-Marie-Tooth Disease Type 1F	Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Hand tremor, Fas...	ORPHA:101085
Amyotrophic Lateral Sclerosis	Babinski sign, Spasticity, Paralysis, Fasciculations	ORPHA:803
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Glycosuria, Pancreatic hypoplasia, Intestinal malrotation, Hypergl...	OMIM:600001
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Conductive hearing impairment, Atelectasis, Recurrent bronchitis, Chro...	OMIM:244400
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Gastrointestin...	OMIM:617341
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Diarrhea, Thyroid adenoma, Pituitary adenoma, Hypoglycemia, Pituitary prolactin cel...	OMIM:131100
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Malabsorption, Polycystic ovaries, Abnormality of the adrenal g...	ORPHA:2176
Cysticercosis	Abnormal optic chiasm morphology, Chorioretinitis, Infectious encephalitis, Increased circulating...	ORPHA:1560
Gaucher Disease	Cherry red spot of the macula, Decreased HDL cholesterol concentration, Pancytopenia, Increased c...	ORPHA:355
Addison Disease	Diarrhea, Adrenal calcification, Nausea and vomiting, Anorexia, Hypoparathyroidism, Celiac diseas...	ORPHA:85138
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur...	ORPHA:90308
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Intestinal malrotation, ...	ORPHA:244
Cohen Syndrome	Optic atrophy, Neutropenia	ORPHA:193
Khan-Khan-Katsanis Syndrome	Anemia, Lymphopenia, Hypertonia, Neutropenia	OMIM:618460
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Gastroesophageal reflux, Aspiration pneumonia, Decreased response to growth hormone stimulation t...	ORPHA:444077
Pearson Syndrome	Ataxia, Bone marrow hypocellularity, Pancytopenia, Reticulocytosis, Splenomegaly, Severe infectio...	ORPHA:699
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Erysipelas, Skin rash, Chronic constipation, Chronic diarr...	OMIM:142680
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Anemia, Delayed puberty, Thromb...	ORPHA:77261
Cartilage-Hair Hypoplasia	Anemia, Decreased circulating antibody level, Neutropenia	ORPHA:175
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Tremor, Abnormality of extrapyramidal motor function, Megaloblastic anemia, Thrombocytopenia, Neu...	OMIM:277400
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Spastic gait, Basal lamina onion bulb formation, Progressive spastic paraplegia, Demyelinating pe...	ORPHA:2821
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site	ORPHA:168563
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Extramedullary hematopoiesis, Hepatosplenomegaly, Optic nerve compr...	OMIM:259730
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu...	ORPHA:732
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Immunodeficiency 68	Sepsis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent meningitis, T l...	OMIM:612260
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Recurrent ear infections, Recurrent cutaneous abscess formation...	ORPHA:163956
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Tongue fasciculations, Vocal cord paresis, Facial paralysis, Head tremor, Gait ata...	ORPHA:99949
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Periodic paralysis, Tremor	OMIM:613239
Cystic Fibrosis	Gastroesophageal reflux, Bronchiectasis, Elevated circulating hepatic transaminase concentration,...	ORPHA:586
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	ORPHA:100026
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen...	OMIM:606002
Kikuchi-Fujimoto Disease	Ataxia, Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia, Meningitis	ORPHA:50918
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Oculopharyngodistal Myopathy	Vocal cord paresis, Paraplegia	ORPHA:98897
Autosomal Recessive Polycystic Kidney Disease	Low-set ears, Hepatosplenomegaly, Hypersplenism, Hepatoblastoma, Polycystic kidney dysplasia, Eso...	ORPHA:731
Familial Hypofibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:98881
East Syndrome	Ataxia, Peripheral axonal neuropathy, Action tremor, Peripheral hypomyelination	ORPHA:199343
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Recu...	ORPHA:79404
Ganglioneuroma	Gastrointestinal hemorrhage, Abnormal rectum morphology, Hypertension, Episodic abdominal pain, H...	ORPHA:251992
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Malabsorption, Abnormal bleeding, Splenomegaly	ORPHA:79301
Pediatric-Onset Graves Disease	Splenomegaly, Tremor, Hyperkinetic movements, Thrombocytopenia, Neutropenia in presence of anti-n...	ORPHA:525731
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spastic paraplegia, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Limb ataxia, Spl...	ORPHA:2072
Nocardiosis	Lymphadenitis, Scleritis, Anorexia, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous ab...	ORPHA:31204
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Jejunoileal ulceration, Hepatitis, Rectal abscess, ...	ORPHA:436252
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Vomiting, Malnutrition, Abnormality of the sp...	ORPHA:79456
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the spleen, Decreased proportion of CD4-positive help...	ORPHA:543
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Iron def...	ORPHA:309031
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Behçet Disease	Nausea and vomiting, Mitral regurgitation, Anorexia, Abdominal pain, Meningitis, Endocarditis, Ao...	ORPHA:117
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Gastrointesti...	ORPHA:903
Inhalational Botulism	Paralysis	ORPHA:254504
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester...	OMIM:615812
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Degcags Syndrome	Chronic kidney disease, Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Hepatospleno...	OMIM:619488
22Q11.2 Deletion Syndrome	Low-set ears, Hearing impairment, Feeding difficulties in infancy, Anal atresia, Purpura, Polycys...	ORPHA:567
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Hearing impairment, Ileitis, Arrhyt...	ORPHA:707
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis	OMIM:145260
Gm1 Gangliosidosis	Low-set ears, Gastroesophageal reflux, Cardiomyopathy, Aspiration pneumonia, Congestive heart fai...	ORPHA:354
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Type I diabetes mellitus, Insulin-resistant diabetes mellitus, High palate, Hepatomegaly, Reduced...	OMIM:226980
3-Methylglutaconic Aciduria, Type Viii	Tremor, Hypertonia, Clonus, Neutropenia	OMIM:617248
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Splenomegaly, ...	OMIM:620296
Wolfram Syndrome	Nephropathy, Gastrointestinal hemorrhage, Abnormality of the urinary system, Cardiomyopathy, Recu...	ORPHA:3463
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Elevated circulating C-reactive protein concentration, Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Neuroleptic Malignant Syndrome	Hypertensive crisis, Acute kidney injury, Sepsis, Hypotension, Vomiting, Pulmonary embolism, Aspi...	ORPHA:94093
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations	ORPHA:682
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Periodic paralysis	OMIM:188580
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Vomiting, Anteriorly placed anus, Hypoglycemia, Hyperglycemia, Hyperammonemia, Microvesicular hep...	OMIM:220111
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, High palate, Micropenis, Recurrent respiratory infections, Feeding difficulties	ORPHA:98905
Malignant Atrophic Papulosis	Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pleural eff...	OMIM:602248
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Intestinal ob...	ORPHA:44890
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Optic atrophy, Polycythemia, Hype...	OMIM:606812
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis	OMIM:242100
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Hypotension, Vomiting, Conductive hearing impairment, Hearing impairment...	ORPHA:2135
Immunoglobulin A Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal infarctions, R...	ORPHA:761
Cocaine Intoxication	Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase concentration, Nause...	ORPHA:90068
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged...	OMIM:193400
Mucopolysaccharidosis Type 3	Hearing impairment, Aspiration pneumonia, Urinary glycosaminoglycan excretion, Sensorineural hear...	ORPHA:581
Congenital Myopathy 15	Vocal cord paralysis	OMIM:620161
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Leukocyto...	ORPHA:829
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Lung abscess, Recurrent respir...	OMIM:610910
Chromomycosis	Keratitis, Squamous cell carcinoma, Keratoconjunctivitis sicca, Recurrent bacterial infections, M...	ORPHA:182
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ...	ORPHA:589
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis	ORPHA:37553
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Spasticity, Myoclonus, Vocal cord paralysis, Increased cup-to-disc ratio	ORPHA:500144
Polycythemia Vera	Gingival bleeding, Early satiety, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism...	ORPHA:729
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Increased HDL cholesterol concentration, Osteomyelitis, Neop...	ORPHA:70591
Mucopolysaccharidosis, Type Vi	Pneumonia, Cervical myelopathy, Recurrent upper respiratory tract infections, Macroglossia, Sinus...	OMIM:253200
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m...	ORPHA:881
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Perlman Syndrome	Distal ileal atresia, Volvulus, Hypoglycemia, Nephroblastomatosis, Renal hamartoma, Cryptorchidis...	OMIM:267000
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic disc pallor, Vocal cord paresis, Optic atrophy, Axonal degeneration/regeneration	OMIM:601152
Digeorge Syndrome	Low-set ears, Recurrent otitis media, High palate, Patent ductus arteriosus, Renal dysplasia, Hig...	OMIM:188400
Cockayne Syndrome B	Optic atrophy, Peripheral dysmyelination, Splenomegaly, Tremor, Ataxia, Abnormal peripheral myeli...	OMIM:133540
Rothmund-Thomson Syndrome	Leukemia, Anemia, Aplastic anemia, Neutropenia	ORPHA:2909
Multiple Endocrine Neoplasia Type 1	Peptic ulcer, Diarrhea, Gastroesophageal reflux, Vomiting, Shortened QT interval, Melena, Zolling...	ORPHA:652
Cockayne Syndrome A	Optic atrophy, Peripheral dysmyelination, Splenomegaly, Tremor, Ataxia, Abnormal peripheral myeli...	OMIM:216400
Hardikar Syndrome	Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral cleft palate, Celiac disease, Abd...	OMIM:301068
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Neoplasm of the ureth...	ORPHA:2908
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Encephalocraniocutaneous Lipomatosis	Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia	ORPHA:2396
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Nausea and vomiting, Abnormality ...	ORPHA:1414
Cryptococcosis	Pneumonia, Sepsis, Vomiting, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, ...	ORPHA:1546
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Cranial nerve compression, Tremor, Adrenal pheochromocytoma, Vocal...	ORPHA:276621
Alpha-Mannosidosis, Infantile Form	Pneumonia, Aortic regurgitation, Oligosacchariduria, Recurrent urinary tract infections, Hepatosp...	ORPHA:309282
Overlap Myositis	Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ...	ORPHA:206572
Rothmund-Thomson Syndrome Type 1	Leukemia, Anemia, Aplastic anemia, Neutropenia	ORPHA:221008
Hermansky-Pudlak Syndrome	Neutropenia	ORPHA:79430
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ...	ORPHA:131
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg...	ORPHA:99103
Velocardiofacial Syndrome	Recurrent infections, Impaired T cell function	OMIM:192430
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmona...	ORPHA:538
Cornelia De Lange Syndrome 1	Low-set ears, Sensorineural hearing impairment, High palate, Ectopic kidney, Hypospadias, High, n...	OMIM:122470
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Tremor, Vocal cord paralysis, Poor fine motor coordination, Myelin outfoldings	ORPHA:99956
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi...	ORPHA:679
Laryngeal Abductor Paralysis	Vocal cord paralysis	OMIM:150260
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation...	ORPHA:99104
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Hematuria,...	ORPHA:95455
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Tube feeding, Dysphagia, Aspiration pneumonia	ORPHA:79264
Rothmund-Thomson Syndrome Type 2	Leukemia, Anemia, Aplastic anemia, Neutropenia	ORPHA:221016
Sapho Syndrome	Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec...	ORPHA:793
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia...	OMIM:619708
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neuropathy, Ataxia, Intention tremor	OMIM:612780
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Leukopenia, Portal hypertension, Encephalocele, Pulmonary arterial h...	ORPHA:974
Bronchiolitis Obliterans	Pneumonia, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis	ORPHA:1303
Arnold-Chiari Malformation Type I	Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Gait ataxia, Abnormality o...	ORPHA:268882
Mpi-Cdg	Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver func...	ORPHA:79319
Choreoacanthocytosis	Blepharospasm, Poor motor coordination, Involuntary movements, Resting tremor, Chorea, Acanthocyt...	ORPHA:2388
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Diarrhea, Ketonuria, Abnormal bleeding, Increased urinary glycerol, ...	ORPHA:247598
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Vocal cord paresis, Polyminimyoclonus, Tremor, Fasciculations	OMIM:619574
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Hearing impairment, Aspiration pneumonia, Horseshoe...	OMIM:616368
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga...	ORPHA:95430
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted...	ORPHA:97287
Glossopharyngeal Neuralgia	Schwannoma, Vocal cord paralysis, Abnormal glossopharyngeal nerve morphology, Cranial nerve compr...	ORPHA:221098
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers	OMIM:201300
Liver Disease, Severe Congenital	Diarrhea, Recurrent otitis media, Pulmonary edema, Abdominal distention, Hypospadias, Patent duct...	OMIM:619991
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Low-set ears, Recurrent pneumonia, Aspiration pneumonia, Feeding difficulties in infancy, High pa...	ORPHA:314655
Classical-Like Ehlers-Danlos Syndrome Type 1	Spina bifida occulta, Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia	ORPHA:230839
Aspartylglucosaminuria	Vacuolated lymphocytes, Recurrent respiratory infections, Neutropenia, Spasticity	OMIM:208400
Distal Renal Tubular Acidosis	Paralysis, Hemolytic anemia	ORPHA:18
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure, Myeloid leukemia	ORPHA:331
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Periodic hypokalemic paresis	OMIM:170390
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Reactive Arthritis	Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infections, Osteomyelitis,...	ORPHA:29207
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Progressive sensorineural hearing impairment, Psoriasiform dermatitis,...	ORPHA:2237
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia	OMIM:203700
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,...	ORPHA:79128
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Sponastrime Dysplasia	Recurrent pneumonia, Decreased circulating antibody level, Neutropenia	ORPHA:93357
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Congestive heart fai...	ORPHA:363705
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Recurrent infections due to aspirat...	OMIM:223900
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Cranial nerve compression, Tremor, Adrenal pheochromocytoma, Vocal...	ORPHA:29072
Cholera	Hypovolemic shock, Acute kidney injury, Diarrhea, Hypotension, Vomiting, Abdominal cramps, Aspira...	ORPHA:173
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Atrioventricular block, Inflammatory abnormality of the skin, Vomiting, Dilated cardio...	ORPHA:26793
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Elevated circulating amyloid A concentration, Neutrophilia, Elevated ...	OMIM:249100
Gitelman Syndrome	Paralysis, Ataxia	OMIM:263800
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Nephrocalcinosis, Restrictive cardiomyopathy, Bruising susceptibilit...	ORPHA:758
Pachydermoperiostosis	Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Osteomyelitis, Malabsorption, S...	ORPHA:2796
Bohring-Opitz Syndrome	Recurrent infections, Delayed peripheral myelination	OMIM:605039
Mowat-Wilson Syndrome	Recurrent otitis media, Cryptorchidism, Iris coloboma, Dysphagia, Bowel incontinence, Enterocolit...	ORPHA:2152
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Aortic valve stenosis, Narrow palate, Abnormality of the urinary system, Gastroesophag...	ORPHA:353281
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers	ORPHA:477817
Greenberg Dysplasia	Bone marrow hypocellularity, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Hepatic calci...	OMIM:215140
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Urinary retention, Aspiration pneumonia, Recurrent urinary t...	ORPHA:99027
Kabuki Syndrome 1	Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent otitis media, Feeding difficulti...	OMIM:147920
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Hematuria, Proteinuria, Telangiect...	OMIM:192315
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Congenital Factor Xi Deficiency	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac...	ORPHA:329
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Hereditary Xanthinuria	Rheumatoid arthritis, Gout, Arthropathy	ORPHA:3467
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Abnormal heart ...	ORPHA:70588
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Anaplastic Thyroid Carcinoma	Vocal cord paralysis	ORPHA:142
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Myositis...	ORPHA:93672
Igg4-Related Retroperitoneal Fibrosis	Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasif...	ORPHA:49041
Marshall-Smith Syndrome	Low-set ears, Recurrent upper respiratory tract infections, Bilateral conductive hearing impairme...	OMIM:602535
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Peripheral hypomyelination	OMIM:618733
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Vomiting, Granuloma, Unusual skin infection, Intrarena...	ORPHA:68
African Trypanosomiasis	Involuntary movements, Fasciculations, Abnormal central motor function, Hepatosplenomegaly, Splen...	ORPHA:3385
Gm1 Gangliosidosis Type 1	Low-set ears, Hearing impairment, Cardiomyopathy, Aspiration pneumonia, Macrotia, Hepatosplenomeg...	ORPHA:79255
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Renal tubular acidosis, Organic aciduria, Aspiration pneumonia	ORPHA:431361
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Heart murmur	ORPHA:1867
Roifman-Chitayat Syndrome	Pneumonia, Ectopic kidney, Arthritis	OMIM:613328
Frontometaphyseal Dysplasia 2	Bifid uvula, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties in infancy, Delayed pu...	OMIM:617137
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Tricuspid regurgitation, Left ventricula...	OMIM:619167
Severe Acute Respiratory Syndrome	Acute kidney injury, Acute infectious pneumonia	ORPHA:140896
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Bifid uvula, Gastroesophageal reflux, Optic atrophy, Gastropares...	ORPHA:500150
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Gitelman Syndrome	Paralysis, Iron deficiency anemia	ORPHA:358
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
X-Linked Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis	ORPHA:98853
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Hearing impairment, Aspiration pneumonia, Horseshoe...	ORPHA:1465
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Menkes Disease	Gastrointestinal hemorrhage, Sepsis, Spontaneous hematomas, Osteomyelitis, Malabsorption, Nausea ...	ORPHA:565
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Hematuria, Telangiectasia, Retinal telangiectasia, Esophageal varix,...	ORPHA:774
Glucagonoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ...	ORPHA:97280
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Recurrent pneumonia, Gastro...	OMIM:225400
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Malabsor...	ORPHA:440437
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Episcleritis, Cryptorchidism,...	ORPHA:2273
Classic Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Aspiration pneumonia	ORPHA:216866
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Low-set ears, Sensorineural hearing impairment, Feeding difficulties in in...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Low-set ears, Sensorineural hearing impairment, Feeding difficulties in in...	ORPHA:353277
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Acute infectious pneumonia, Crazy paving pattern	ORPHA:264675
Infantile Neuroaxonal Dystrophy	Constipation, Aspiration pneumonia	ORPHA:35069
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Ataxia, Decreased number of peripheral myelinated nerve fibers	OMIM:256810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Neonatal sepsis, Vomiting	ORPHA:90790
Pineoblastoma	Paralysis, Papilledema	ORPHA:251909
Combined Oxidative Phosphorylation Deficiency 25	Low-set ears, Aspiration pneumonia, Chronic constipation, Sensorineural hearing impairment, Intra...	OMIM:616430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia	OMIM:253700
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Hearing impairment, Intestinal obstruction, Tinnitus, Gastrointestin...	ORPHA:97286
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis	OMIM:606071
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal h...	OMIM:177850
Pmm2-Cdg	Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of...	ORPHA:79318
Bickerstaff Brainstem Encephalitis	Pneumonia, Severe infection, Respiratory tract infection, Recurrent gastroenteritis	ORPHA:79138
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent aspiration pneumonia, Abnormality of humoral immunity, Fasciitis, Osteomyelitis, Absces...	ORPHA:642
Grfoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ...	ORPHA:97261
X-Linked Dystonia-Parkinsonism	Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia	ORPHA:53351
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers	OMIM:256800
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Arrhythmia, Gastrointestinal stroma t...	ORPHA:139411
Somatostatinoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst...	ORPHA:97283
Acute Liver Failure	Acute kidney injury, Diarrhea, Gastrointestinal hemorrhage, Hepatitis, Hypotension, Vomiting, Sho...	ORPHA:90062
Lynch Syndrome	Gastrointestinal hemorrhage, Neoplasm of the stomach, Malabsorption, Nausea and vomiting, Intesti...	ORPHA:144
Schinzel-Giedion Syndrome	Recurrent pneumonia, Spasticity, Vocal cord paralysis, Hypertonia, Myeloid leukemia	ORPHA:798
Alobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Abnormal gastrointestinal t...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Abnormal gastrointestinal t...	ORPHA:93926
Lobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Abnormal gastrointestinal t...	ORPHA:93924
Semilobar Holoprosencephaly	Bifid uvula, Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Abnormal gastrointestinal t...	ORPHA:220386
Tay-Sachs Disease	Dysphagia, Gastrostomy tube feeding in infancy, Hearing impairment, Aspiration pneumonia	ORPHA:845
Ppoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ...	ORPHA:97278
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Chronic consti...	OMIM:619482
Lissencephaly Due To Lis1 Mutation	Feeding difficulties, Aspiration pneumonia	ORPHA:95232
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Subcutaneous hemorrhage, Cerebral ischemia, High...	ORPHA:394
Congenital Fiber-Type Disproportion Myopathy	Aspiration pneumonia, High palate, Nasogastric tube feeding in infancy, Recurrent respiratory inf...	ORPHA:2020
Vocal Cord And Pharyngeal Distal Myopathy	Vocal cord paresis	ORPHA:600
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Polysplenia, Supernumerary ...	OMIM:312870
Reynolds Syndrome	Gastrointestinal hemorrhage, Palmar telangiectasia, Lymphopenia, Splenomegaly, Raynaud phenomenon...	OMIM:613471
Feingold Syndrome 1	Accessory spleen, Asplenia, Vocal cord paralysis, Polysplenia	OMIM:164280
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Vomiting,...	OMIM:229600
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Hearing impairment, Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis, T...	OMIM:301072
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Van Esch-O'Driscoll Syndrome	Unilateral vocal cord paralysis, Recurrent infections, Spasticity	OMIM:301030
8Q24.3 Microdeletion Syndrome	Unilateral renal agenesis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Bilateral renal ...	ORPHA:508488
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Low-set ears, Long penis, Hypoplasia of the thymus, Posteriorly rotated ears, Dysphagi...	OMIM:264090
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Tremor	ORPHA:91347
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis, Optic atrophy	ORPHA:324540
Esophageal Atresia	Vocal cord paresis, Recurrent respiratory infections, Hypertonia	ORPHA:1199
Geleophysic Dysplasia 3	Pneumonia, Mitral regurgitation	OMIM:617809
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Low-set ears, Nephrocalcinosis, Abnormality of...	ORPHA:79500
Niemann-Pick Disease Type C	Hepatic failure, Hearing impairment, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Gast...	ORPHA:646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Gastroesophageal reflux, Aspiration pneumonia, Vesicoureteral reflux, Nephrolithiasis, Hydronephr...	ORPHA:438213
Codas Syndrome	Vocal cord paresis	OMIM:600373
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Acrofacial Dysostosis, Cincinnati Type	Recurrent otitis media, Abnormality of coordination, Myoclonus, Lower limb spasticity, Vocal cord...	OMIM:616462
Williams-Beuren Syndrome	Recurrent urinary tract infections, Recurrent otitis media, Incoordination, Vocal cord paralysis,...	OMIM:194050
Yunis-Varon Syndrome	Low-set ears, Cupped ear, Prominent antihelix, Cardiomyopathy, Aspiration pneumonia, Sensorineura...	OMIM:216340

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Lung - inflammation	Myd88^{tm1a(EUCOMM)Wtsi}	HOM		Early adult

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 Myd88.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Myd88^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Myd88^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Myd88^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Myd88^{tm1a(EUCOMM)Wtsi}	PMC5827107

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Myd88^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Myd88^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Myd88^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Myd88^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

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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Gene: Myd88 MGI:108005

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Legacy Phenotype Associated Images

Human diseases caused by Myd88 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data