Gene: Abcb1a MGI:97570

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ATP-binding cassette, sub-family B (MDR/TAP), member 1A

Synonyms:

mdr-3, P-glycoprotein, P-gp, MDR3, Pgy-3, Mdr1a, Pgy3, Evi32, multiple drug resistant 1a, Pgp

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Abcb1a 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 Abcb1a (1 diseases)
Human diseases predicted to be associated with Abcb1a (1254 diseases)

The table below shows human diseases associated to Abcb1a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Inflammatory Bowel Disease 13		Inflammation of the large intestine	OMIM:612244

The table below shows human diseases predicted to be associated to Abcb1a by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency, Common Variable, 11	Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio...	OMIM:615767
Immunodeficiency 70	Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D...	OMIM:618969
Masp2 Deficiency	Complement deficiency, Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Bloody diarrhea, Failure to thrive, Pustule, Villous atrophy, Erythroderma, Duodenit...	OMIM:614328
Immunodeficiency 37	Colitis, Decreased circulating antibody level, Infectious encephalitis	OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis	OMIM:617006
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Celiac disease, Thyroiditis	OMIM:618985
Secretory Component Deficiency	Intermittent diarrhea, Secretory IgA deficiency, Chronic intestinal candidiasis	OMIM:269650
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ...	OMIM:619281
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Malabsorption, Recurrent infection of the gastrointestinal tract	OMIM:137100
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski...	OMIM:618944
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Abnormal immunoglobulin level	OMIM:614102
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula...	OMIM:608106
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Decreased...	OMIM:618108
Immunodeficiency 61	Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer...	OMIM:300310
Ige Responsiveness, Atopic	Allergic rhinitis, Increased circulating IgE level, Eczema	OMIM:147050
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Immunodeficiency 25	Increased circulating IgA level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc...	OMIM:618394
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve...	OMIM:619632
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Eczema, Reduced delaye...	OMIM:617241
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infection of the gast...	OMIM:605258
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Diar...	ORPHA:277
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral...	OMIM:300400
Kimura Disease	Increased circulating IgE level, Abnormal salivary gland morphology	ORPHA:482
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,...	OMIM:300635
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Increased circulating IgG level, Recurrent otitis media, Bronchiecta...	OMIM:618982
Igg4-Related Aortitis	Increased circulating antibody level, Abdominal pain, Complement deficiency, Intestinal obstructi...	ORPHA:449400
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Chronic ot...	ORPHA:217390
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Keratitis, Macroglossia, Eczema, Chronic diarrhea, Recurrent otitis media, Bronchiectasis, Increa...	OMIM:618523
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Netherton Syndrome	Failure to thrive, Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villou...	OMIM:256500
Bare Lymphocyte Syndrome, Type Ii	Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Panhypogammaglobulinemia, Villous atr...	OMIM:209920
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,...	OMIM:608809
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Tube feeding, Decreased circulating IgG level, Oligoarthritis, D...	OMIM:619510
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract	OMIM:609529
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Diarrhea, Failure to thrive, Recurrent otitis media	OMIM:613501
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati...	OMIM:618534
Agammaglobulinemia 5, Autosomal Dominant	High palate, Agammaglobulinemia	OMIM:613506
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Bronchiectasis, Increased circulating IgM level, Increased circulating IgG level, Recurrent otiti...	OMIM:619220
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Decreased circulating IgA level, Malabsorption, Sinusitis, Macroglossia, Diarr...	OMIM:242860
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilic infiltration of the esophagus, Decreased circulating total IgM, Eczema, Atopic derma...	OMIM:243700
Immunodeficiency 11	Decreased circulating antibody level, Pneumonia	OMIM:615206
Caspase 8 Deficiency	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci...	OMIM:607271
Immunodeficiency 24	Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ...	OMIM:615897
Lactose Intolerance, Adult Type	Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact...	OMIM:223100
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhea, Arthritis, Intestinal obs...	ORPHA:343
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal natural killer cell physiology, Colitis, Decreased circulating antibody level, Recurrent...	OMIM:613101
Iga Pemphigus	Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Ulcerative col...	ORPHA:555905
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Immunodeficiency 14A, Autosomal Dominant	Bronchiectasis, Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level,...	OMIM:615513
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Abnormal intestine morphology, Sec...	OMIM:600351
Immunodeficiency 27A	Anorexia, Diarrhea, Increased circulating IgG level, Increased inflammatory response, Increased c...	OMIM:209950
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t...	OMIM:614878
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Angiostrongyliasis	Increased circulating IgA level, Constipation, Abdominal pain, Projectile vomiting, Increased cir...	ORPHA:74
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Colitis, Decreased circulating antibody level, Esophageal stenosis	OMIM:615190
Immunodeficiency 15B	Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level, Chronic diarrhea	OMIM:615592
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis	OMIM:162700
Reticular Dysgenesis	Failure to thrive, Malabsorption, Skin rash, Diarrhea, Chronic otitis media, Decreased circulatin...	ORPHA:33355
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci...	OMIM:308230
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	High palate, Eczematoid dermatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent pneum...	OMIM:147060
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ileus, Failure to thrive, Eczema, Glomerulonephritis, Arthritis, Villous atrophy, Hepatitis, Chro...	OMIM:304790
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Failure to thrive, Bloody diarrhea, Defective T cell proliferation, Eosinophilic infiltration of ...	OMIM:618213
Diarrhea 8, Secretory Sodium, Congenital	Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium	OMIM:616868
Autoinflammation With Infantile Enterocolitis	Failure to thrive, Enterocolitis, Skin rash, Episodic vomiting, Reduced natural killer cell activ...	OMIM:616050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circ...	OMIM:616100
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ...	OMIM:613494
Pyoderma Gangrenosum	Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myositis, Inflammation of th...	ORPHA:48104
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Malabsorption, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnu...	OMIM:613662
Sodium-Dependent Multivitamin Transporter Deficiency	Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level	OMIM:618973
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	High palate, Cutaneous abscess, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:619752
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Abdominal pain, Skin rash, Diarrhea, Increased circulating IgM l...	OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 2	Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, In...	OMIM:618048
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Increased circulating IgA level, Feeding difficulties, Pyloric stenosis, Bilat...	OMIM:616395
Inflammatory Bowel Disease (Crohn Disease) 1	Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru...	OMIM:266600
Immunodeficiency 48	Failure to thrive, Eczematoid dermatitis, Diarrhea, Panhypogammaglobulinemia, Pneumonia	OMIM:269840
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169154
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Chronic oral candidiasis	OMIM:212050
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci...	OMIM:619824
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff...	ORPHA:411696
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Lymphocytic interstitial pneumonia, Diarrhea, Increased circulating IgG level,...	OMIM:618495
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Inflammatory Pseudotumor Of The Liver	Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased hepatitis B virus antibody...	ORPHA:90003
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Sinusitis, Increased circulating IgA level...	OMIM:600903
Lymphangiectasia, Intestinal	Malabsorption, Decreased circulating IgG level, Intestinal lymphangiectasia	OMIM:152800
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso...	OMIM:243150
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Increased circulating IgM level, Helicobacter pylori infection	ORPHA:2688
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Ulcerative colitis	OMIM:619398
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Aplasia of the eccrine sweat gla...	OMIM:300291
Episodic Ataxia, Type 1	Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia	OMIM:160120
Inflammatory Bowel Disease (Crohn Disease) 30	Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop...	OMIM:619079
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,...	OMIM:601859
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Recurr...	OMIM:614700
Spinocerebellar Ataxia Type 15/16	Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a...	ORPHA:98769
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 58	Bronchiectasis, Failure to thrive, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, ...	OMIM:618131
Netherton Syndrome	Malabsorption, Skin rash, Eczema, Decreased circulating antibody level, Erythroderma, Increased c...	ORPHA:634
Carcinoma Of Esophagus	Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,...	ORPHA:70482
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:607594
5-Oxoprolinase Deficiency	Vomiting, Diarrhea, Enterocolitis, Abdominal pain	OMIM:260005
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy	OMIM:618987
Boutonneuse Fever	Abdominal pain, Skin rash, Maculopapular exanthema, Diarrhea, Increased circulating IgG level, Na...	ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Nephritis, Malar rash, Increased circulating IgG level, Decrease...	OMIM:603909
Simple Cryoglobulinemia	Viral hepatitis, Nephritis, Abdominal pain, Complement deficiency, Monoclonal elevation of circul...	ORPHA:91139
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Weight loss, Abnormality of the gastrointestinal tract, Atopic d...	ORPHA:2902
Neuronal Intestinal Pseudoobstruction	Malabsorption, Decreased circulating antibody level	ORPHA:99811
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:247630
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, Arthritis, Panhypogammaglobulinemia...	OMIM:601457
Inflammatory Bowel Disease 29	Crohn's disease, Ulcerative colitis	OMIM:618077
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ...	OMIM:613500
Immunodeficiency 44	Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level	OMIM:616636
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant...	OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ...	ORPHA:169160
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss	OMIM:191390
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Increased circulating IgA level, Increased circulating IgG level, Uveitis, Pun...	OMIM:617388
Lassa Fever	Abdominal pain, Diarrhea, Increased circulating IgM level, Dysphagia, Nausea and vomiting, Conjun...	ORPHA:99824
Pgm3-Cdg	High palate, Eczema, Chronic sinusitis, Bone marrow hypocellularity, Lactose intolerance, Osteomy...	ORPHA:443811
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Decreased circulating IgA level, Feeding difficulties, Recurrent skin infectio...	OMIM:617744
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Decreased response to growth ho...	OMIM:615577
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis	ORPHA:90368
Autoimmune Hepatitis	Increased circulating antibody level, Viral hepatitis, Abdominal pain, Hepatocellular carcinoma, ...	ORPHA:2137
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Okur-Chung Neurodevelopmental Syndrome	High palate, Failure to thrive, Decreased circulating IgA level, Constipation, Decreased circulat...	OMIM:617062
Schnitzler Syndrome	Increased circulating IgM level, Skin rash, Arthritis	ORPHA:37748
Pseudomyxoma Peritonei	Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Weight...	ORPHA:26790
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Enterocolitis, Abdomin...	OMIM:619802
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Cirrhosis, Familial	Increased circulating antibody level, Hepatitis, Chronic active hepatitis	OMIM:118900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Failure to thrive in infancy, ...	ORPHA:37042
Peeling Skin Syndrome 1	Erythroderma, Increased circulating IgE level	OMIM:270300
Alpha-Heavy Chain Disease	Malabsorption, Abnormality of the small intestine, Dysgammaglobulinemia, Abdominal pain	ORPHA:100025
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatic failure, Fulminant hepatitis, Reduced natural killer cel...	OMIM:308240
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Increased circulating antibody level, Pneumonia	OMIM:247800
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3	Tremor, Ataxia, Slurred speech	OMIM:613227
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in...	ORPHA:69126
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Xq28 (MECP2) duplication	Failure to thrive, Decreased circulating IgA level, Constipation, Gastroesophageal reflux, Feedin...	DECIPHER:45
Immunodeficiency 23	High palate, Failure to thrive, Eczema, Membranoproliferative glomerulonephritis, Increased circu...	OMIM:615816
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss, Arthralgia/arthritis	ORPHA:411593
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent gastroenteritis, Failure to thrive, Decreased circulating IgA level, Chronic oral candi...	ORPHA:275
Primary Biliary Cholangitis	Increased circulating IgA level, Abdominal distention, Hepatic failure, Hepatocellular carcinoma,...	ORPHA:186
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	High palate, Decreased circulating antibody level, Pneumonia	OMIM:614069
Combined Immunodeficiency, X-Linked	Sinusitis, Decreased circulating IgG level, Pneumonia, Otitis media	OMIM:312863
Immunodeficiency 88	Eosinophilia	OMIM:619630
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Melena, Recurrent otitis media, Increased ...	OMIM:301000
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Otitis media, Aplasia of the thymus, Panhypogammaglobulinemia, Pneumonia, Chro...	OMIM:602450
Immunodeficiency 50	Eczema, Decreased circulating antibody level	OMIM:300988
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Inflammatory Bowel Disease 28, Autosomal Recessive	Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess	OMIM:613148
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Decreased circulating IgA level, Inflammatory abnormality of the skin, Sinusit...	OMIM:102700
Primary Dystonia, Dyt27 Type	Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ...	ORPHA:464440
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 36	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level...	OMIM:616005
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp...	OMIM:142623
Spinocerebellar Ataxia 43	Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Tremor, Gait ataxia	OMIM:617018
Primary Dystonia, Dyt13 Type	Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar...	ORPHA:98807
Secondary Short Bowel Syndrome	Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S...	ORPHA:95427
Multiple Myeloma	Increased circulating IgA level, Increased circulating IgG level, Decreased circulating antibody ...	ORPHA:29073
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine	ORPHA:46487
Autosomal Agammaglobulinemia	High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski...	ORPHA:33110
Episodic Ataxia With Slurred Speech	Tremor, Gait ataxia, Slurred speech	ORPHA:401953
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:859
Urban-Rogers-Meyer Syndrome	Obesity, Cryptorchidism, Increased circulating IgE level	ORPHA:3409
O'Sullivan-Mcleod Syndrome	Atrophy of the spinal cord, Tremor, Fasciculations, Eosinophilia	ORPHA:99965
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Increased circulating IgA level, Pustule, Skin rash, Increased circulating IgG...	OMIM:615934
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Sclerosing cholangitis, Increased circulating IgG level, Inflammation of the large intestine, Inc...	ORPHA:562639
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Weight loss, Abnormal esophagus physiolo...	ORPHA:2198
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Recur...	ORPHA:276
Zika Virus Disease	Skin rash, Maculopapular exanthema, Myelitis, Vomiting, Arthritis, Increased circulating IgM leve...	ORPHA:448237
Trehalase Deficiency	Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting	ORPHA:103909
Igg4-Related Submandibular Gland Disease	Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Prostatitis, Co...	ORPHA:449432
Hyper-Igd Syndrome	Increased circulating IgA level, Chronic oral candidiasis, Abdominal pain, Skin rash, Increased c...	OMIM:260920
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Malabsorption, Decreased circulating antibody level	ORPHA:1116
Aspergillosis	Keratitis, Sinusitis, Osteomyelitis, Abnormal esophagus morphology, Hepatitis, Infectious encepha...	ORPHA:1163
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, Bronchiectasis...	OMIM:619705
Tremor, Hereditary Essential, 6	Kinetic tremor, Vocal tremor, Postural tremor, Head tremor	OMIM:618866
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Tremor, Hereditary Essential, 5	Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor	OMIM:616736
Primary Intestinal Lymphangiectasia	Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Decreased circu...	ORPHA:90362
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ...	ORPHA:35078
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Cronkhite-Canada Syndrome	Malabsorption, Abdominal pain, Stomach cancer, Anorexia, Cachexia, Diarrhea, Furrowed tongue, Int...	ORPHA:2930
Leukoencephalopathy, Progressive, With Ovarian Failure	Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia	OMIM:615889
Trichohepatoenteric Syndrome 2	Failure to thrive, Bloody diarrhea, Colitis, Small for gestational age, Chronic hepatitis, Diarrh...	OMIM:614602
Cystic Fibrosis	Malabsorption, Decreased circulating antibody level, Exocrine pancreatic insufficiency	ORPHA:586
Immunodeficiency 82 With Systemic Inflammation	Gastritis, Diarrhea, Vomiting, Pneumonia, Weight loss, Colitis, Osteomyelitis, Decreased circulat...	OMIM:619381
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Leukoencephalopathy with metaphyseal chondrodysplasia	Spastic paraplegia, Diffuse cerebral atrophy, Babinski sign, Tremor	OMIM:300660
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Mitochondrial Neurogastrointestinal Encephalomyopathy	Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Small...	ORPHA:298
Immunodeficiency 105	Decreased circulating IgA level, Decreased circulating IgG level, Skin rash, Decreased circulatin...	OMIM:619924
Immunodeficiency 46	Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, Chronic diarrh...	OMIM:616740
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus	OMIM:200900
Thymoma	Rheumatoid arthritis, Abnormal lymphocyte physiology, Neoplasm of the gastrointestinal tract, Myo...	ORPHA:99867
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis	OMIM:613960
Immunodeficiency 56	Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr...	OMIM:615207
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia	OMIM:615214
Leukoencephalopathy, Brain Calcifications, And Cysts	Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy...	OMIM:614561
Visceral Myopathy 2	Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en...	OMIM:619350
X-Linked Lymphoproliferative Disease	Decreased liver function, Decreased circulating IgA level, Colitis, Decreased circulating IgG lev...	ORPHA:2442
Immunodeficiency 17	Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, E...	OMIM:615607
Spinocerebellar Ataxia Type 31	Tremor, Gait ataxia, Spasticity, Cerebellar atrophy	ORPHA:217012
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media	OMIM:616941
Erythema Elevatum Diutinum	Increased circulating antibody level, Skin rash	ORPHA:90000
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:540
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Colitis	ORPHA:88643
Immunodeficiency 76	Colitis, Recurrent pneumonia, Chronic diarrhea	OMIM:619164
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Small for gestational age	OMIM:300076
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C...	ORPHA:911
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	ORPHA:517
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Postinfectious Vasculitis	Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski...	ORPHA:48435
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Adult-Onset Nemaline Myopathy	High palate, Neuromuscular dysphagia, Feeding difficulties, Paraproteinemia	ORPHA:171442
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Oculogastrointestinal Muscular Dystrophy	Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Cachexia, Abnormality of...	ORPHA:1876
Spinocerebellar Ataxia 23	Neuronal loss in central nervous system, Dysmetria, Limb ataxia, Babinski sign, Tremor, Gait atax...	OMIM:610245
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Spinocerebellar Ataxia 37	Frequent falls, Tremor, Ataxia, Cerebellar atrophy	OMIM:615945
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Failure to thrive	OMIM:615285
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Panhypogammaglobul...	OMIM:600802
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Diarrhea, Vomiting, Feeding difficulties in infancy, Abnormal intestine morpho...	OMIM:606528
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impaired T cell functio...	OMIM:614576
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Bronchiectasis, Decreased circulating total IgM	OMIM:615139
Autoimmune Lymphoproliferative Syndrome	Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Coli...	ORPHA:3261
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Agammaglobulinemia 1, Autosomal Recessive	Failure to thrive, Panhypogammaglobulinemia, Recurrent sinusitis, Decreased circulating antibody ...	OMIM:601495
X-Linked Agammaglobulinemia	Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis, Chronic otit...	ORPHA:47
Dystonia 27	Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor	OMIM:616411
Intellectual Developmental Disorder, Autosomal Recessive 6	Tremor, Myoclonus, Involuntary movements, Dystonia	OMIM:611092
Spinocerebellar Ataxia Type 20	Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica...	ORPHA:101110
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Malabsorption, Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Decreased circulating ...	OMIM:226300
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent skin infections, Recurrent sinusitis, Decreased circulating antibody level, Recurrent p...	OMIM:616576
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ...	OMIM:612567
Whim Syndrome 1	Bronchiectasis, Decreased circulating antibody level, Decreased circulating IgG level	OMIM:193670
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgA level, Xerostomia, Myositis, Abnormal salivary gland morphology, Increa...	ORPHA:79078
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Abdominal pain, Anorexia, Cachexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, ...	OMIM:175500
Insulin-Resistance Syndrome Type B	Decreased body weight, Increased circulating IgA level, Decreased serum complement factor B, Neph...	ORPHA:2298
Glutathionuria	Tremor	OMIM:231950
Dystonia 23	Torticollis, Cerebral cortical atrophy, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, C...	OMIM:614860
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Abdominal cramps, Slender build, Malabsorption, Early satiety, Constipation, Abdominal pain, Cach...	OMIM:603041
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Colitis, Abdominal pain, Sk...	OMIM:301074
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Mu-Heavy Chain Disease	Increased circulating antibody level, Weight loss	ORPHA:100024
Lead Poisoning	Abdominal cramps, Constipation, Abdominal distention, Abdominal pain, Skin rash, Anorexia, Small ...	ORPHA:330015
Dystonia 3, Torsion, X-Linked	Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi...	OMIM:314250
Transcobalamin Ii Deficiency	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci...	OMIM:275350
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Cleft palate, Skin rash, Eczema, Chronic otitis media, Increased circulating IgE l...	ORPHA:2314
Thrombocytopenia 1	Increased circulating IgE level, Eczema, Increased circulating IgA level	OMIM:313900
Diarrhea 9	Failure to thrive, Villous atrophy, Diarrhea	OMIM:618168
Tremor, Hereditary Essential, 1	Postural tremor, Action tremor, Hand tremor	OMIM:190300
Hereditary Folate Malabsorption	Failure to thrive, Cheilitis, Gastroesophageal reflux, Anorexia, Diarrhea, Glossitis, Decreased c...	ORPHA:90045
Spinocerebellar Ataxia 20	Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor	OMIM:608687
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Weight loss	OMIM:612075
Caffey Disease	Feeding difficulties in infancy, Increased circulating antibody level	ORPHA:1310
Mantle Cell Lymphoma	Anorexia, Weight loss, Abnormality of the gastrointestinal tract	ORPHA:52416
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem...	OMIM:617862
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Colitis, Reduced circulating interferon gamma,...	OMIM:301220
Intestinal Dysmotility Syndrome	High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ...	OMIM:620045
Epilepsy, Progressive Myoclonic 7	Tremor, Myoclonus, Ataxia, Cerebellar atrophy	OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremor, Cerebellar atrophy, Abnormali...	OMIM:615362
Idiopathic Achalasia	Gastroesophageal reflux, Recurrent aspiration pneumonia, Malnutrition, Dysphagia, Weight loss	ORPHA:930
Chilblain Lupus	Increased circulating antibody level, Discoid lupus rash, Inflammatory abnormality of the skin, S...	ORPHA:90280
Secondary Intestinal Lymphangiectasia	Malabsorption, Intestinal bleeding, Decreased circulating IgA level, Intussusception, Decreased c...	ORPHA:90363
Segawa Syndrome, Autosomal Recessive	Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis...	OMIM:605407
Agammaglobulinemia, X-Linked	Bronchiectasis, Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Py...	OMIM:300755
Ebola Hemorrhagic Fever	Melena, Increased circulating antibody level, Abdominal pain, Maculopapular exanthema, Diarrhea, ...	ORPHA:319218
Wolman Disease	Abdominal distention, Hepatic failure, Steatorrhea, Cachexia, Esophageal varix, Malnutrition, Nau...	ORPHA:75233
Immunodeficiency 7	Hypereosinophilia	OMIM:615387
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Ataxia, Babinski sign, Spasticity	OMIM:611105
Hirschsprung Disease	Constipation, Abdominal pain, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Int...	ORPHA:388
Diarrhea 5, With Tufting Enteropathy, Congenital	Failure to thrive, Intractable diarrhea, Small for gestational age, Arthritis, Villous atrophy	OMIM:613217
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Splenomegaly	OMIM:607685
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Colitis, Skin rash, Anterior uveitis	OMIM:616744
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia, Cerebellar atrophy	ORPHA:423296
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia	ORPHA:157991
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen...	OMIM:301082
Sucrase-Isomaltase Deficiency, Congenital	Malabsorption, Diarrhea, Abdominal pain	OMIM:222900
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic	OMIM:615863
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Dyskeratosis Congenita, Digenic	Failure to thrive, Decreased circulating IgA level, Gastroesophageal reflux, Decreased circulatin...	OMIM:620040
Solitary Rectal Ulcer Syndrome	Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina...	ORPHA:209964
Neuronopathy, Distal Hereditary Motor, Type Viia	Tremor, Vocal cord paralysis, Vocal cord paresis	OMIM:158580
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia	OMIM:618425
Spastic Ataxia 2, Autosomal Recessive	Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb...	OMIM:611302
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Immunodeficiency 96	Decreased circulating IgA level, Defective T cell proliferation, Decreased circulating IgG level,...	OMIM:619774
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:611926
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Igg4-Related Kidney Disease	Pancreatitis, Complement deficiency, Decreased serum complement C4, Lymphadenitis, Chronic sinusi...	ORPHA:449395
Encephalopathy, Progressive, With Or Without Lipodystrophy	Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Myoclonus, Abnormal pyramidal ...	OMIM:615924
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ...	ORPHA:103907
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology	OMIM:251850
Enterocolitis	Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia	OMIM:226150
Immunodeficiency 104	Gastroesophageal reflux, Otitis media, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Pneum...	OMIM:608971
Rift Valley Fever	Melena, Hematemesis, Skin rash, Anorexia, Increased circulating IgG level, Hepatitis, Uveitis, In...	ORPHA:319251
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par...	OMIM:260300
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ...	ORPHA:572
Isolated Congenital Hypoglossia/Aglossia	Feeding difficulties, Cleft palate, Aspiration pneumonia, Weight loss, Nasogastric tube feeding i...	ORPHA:141152
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Intestinal polyp, Large for gestational age, Cryptorchidism, Pro...	ORPHA:457485
Parkinson Disease 2, Autosomal Recessive Juvenile	Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Tremor, Dystonia	OMIM:600116
Lactase Deficiency, Congenital	Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance	OMIM:223000
Immunodeficiency 19	Failure to thrive, Diarrhea, Recurrent otitis media	OMIM:615617
Migraine, Familial Hemiplegic, 1	Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy	OMIM:141500
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer, Chronic diarrhea	ORPHA:3217
Spinocerebellar Ataxia Type 12	Ataxia, Action tremor, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Intention tr...	ORPHA:98762
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Failu...	ORPHA:331206
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Ileus, Abdominal distention, Ovarian neoplasm, Abdominal pain, Cachexia...	ORPHA:83469
Brucellosis	Vomiting, Myocarditis, Epididymitis, Pneumonia, Knee osteoarthritis, Pericarditis, Weight loss, A...	ORPHA:1304
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Immune Deficiency Disease	Decreased circulating total IgM, Fulminant hepatitis, Cholangitis	OMIM:242850
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Colitis, Arthritis, Acne, Sterile arthritis	OMIM:604416
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Eczema, Interstitial pneumonitis, Decreased circulating antibo...	OMIM:615952
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Oromandibular dystonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinski sign, Parkinsonism...	ORPHA:521406
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi...	ORPHA:70593
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia...	OMIM:618935
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Bile Acid Malabsorption, Primary, 1	Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Increased fecal bile acid	OMIM:613291
Spinocerebellar Ataxia, Autosomal Recessive 4	Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations...	OMIM:607317
Halothane Hepatitis	Eosinophilia	OMIM:234350
Igg4-Related Ophthalmic Disease	Keratitis, Sinusitis, Sialadenitis, Orchitis, Pancreatitis, Prostatitis, Increased circulating Ig...	ORPHA:449563
Spinocerebellar Ataxia 12	Action tremor, Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Axial dystoni...	OMIM:604326
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormality of extrapyramidal motor function...	OMIM:300894
Immunodeficiency With Hyper-Igm, Type 4	Bronchiectasis, Osteomyelitis, Impaired Ig class switch recombination, Recurrent infection of the...	OMIM:608184
Spinocerebellar Ataxia 48	Dysphagia, Cachexia	OMIM:618093
Parkinsonism With Spasticity, X-Linked	Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity	OMIM:300911
Maternal Uniparental Disomy Of Chromosome 1	Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Panhypogammaglobulinemia	ORPHA:251009
Celiac Disease, Susceptibility To, 1	Failure to thrive, Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steator...	OMIM:212750
Igg4-Related Thyroid Disease	Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Nodular goiter, Pancreatic fi...	ORPHA:64744
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level, Cleft palate	ORPHA:85317
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Dyskinesia, Limb And Orofacial, Infantile-Onset	Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus	OMIM:616921
Immunodeficiency 52	Bronchiectasis, Failure to thrive, Decreased circulating antibody level, Recurrent pneumonia	OMIM:617514
Primary Sclerosing Cholangitis	Cholelithiasis, Thyroiditis, Cholangiocarcinoma, Adenocarcinoma of the large intestine, Pancreati...	ORPHA:171
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating...	OMIM:301081
Laryngotracheoesophageal Cleft Type 4	Tracheoesophageal fistula, Intestinal atresia, Cachexia	ORPHA:93941
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk...	ORPHA:314632
Dystonia, Dopa-Responsive	Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti...	OMIM:128230
Christianson Syndrome	Dysphagia, Cachexia, Gastroesophageal reflux, Feeding difficulties in infancy	ORPHA:85278
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata...	ORPHA:363710
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci...	ORPHA:183675
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Cerebellar atrophy	OMIM:615768
Hyperphosphatasia With Mental Retardation Syndrome 6	High palate, Abdominal pain, Feeding difficulties, Necrotizing enterocolitis, Vomiting	OMIM:616809
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Peritonitis, Diarr...	ORPHA:90038
Syndromic Diarrhea	Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract...	ORPHA:84064
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:251190
Cap Polyposis	Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,...	ORPHA:160148
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Lichtenstein-Knorr Syndrome	Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy	OMIM:616291
Trichinellosis	Skin rash, Nausea, Dysphagia, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Immunodeficiency 59 And Hypoglycemia	High palate, Malabsorption, Herpes simplex encephalitis, Recurrent skin infections, Acne inversa,...	OMIM:233600
Spinocerebellar Ataxia 18	Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Cerebellar atrophy, Progressive gait ataxia	OMIM:607458
Ménétrier Disease	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p...	ORPHA:2494
Bone Marrow Failure Syndrome 5	Testicular atrophy, Decreased circulating antibody level	OMIM:618165
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Frequent falls, Tremor, Hemiballismus, Chorea	ORPHA:494526
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Bloody diarrhea, Abdominal pain, Diarrhea, Constrictive pericarditis, Intestinal o...	ORPHA:67
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase...	OMIM:256040
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Majeed Syndrome	Failure to thrive, Malabsorption, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, C...	ORPHA:77297
Congenital Short Bowel Syndrome	Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation,...	OMIM:615237
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Decreased specific pneumococcal antibody level, Complete or near-complete abs...	OMIM:613496
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Frequent falls, Tremor, Myoclonus, Dystonia	OMIM:619647
Renpenning Syndrome	Anal atresia, High, narrow palate, Cleft palate, Cachexia, Decreased testicular size	ORPHA:3242
Leishmaniasis	Anorexia, Increased circulating antibody level, Weight loss, Rhinitis	ORPHA:507
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Complement Component 4B Deficiency	Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent pneumoni...	OMIM:614379
Waldenström Macroglobulinemia	Malabsorption, Anorexia, Cryoglobulinemia, Diarrhea, Gastrointestinal hemorrhage, Monoclonal immu...	ORPHA:33226
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Spasticity	OMIM:618092
Folate Malabsorption, Hereditary	Feeding difficulties in infancy, Failure to thrive, Malabsorption, Diarrhea	OMIM:229050
Monomelic Amyotrophy	Tremor, Degeneration of anterior horn cells, Fasciculations	ORPHA:65684
Atypical Pantothenate Kinase-Associated Neurodegeneration	Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq...	ORPHA:216873
Pfapa Syndrome	Malabsorption, Abdominal pain, Arthritis, Weight loss, Infectious encephalitis, Nausea and vomiting	ORPHA:42642
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Iridocyclitis, Anorexia, Inflammation of the large intestin...	OMIM:181000
Paralysis Agitans, Juvenile, Of Hunt	Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia	OMIM:168100
Tick-Borne Encephalitis	Anorexia, Myelitis, Vomiting, Increased circulating IgG level, Abnormality of serum cytokine leve...	ORPHA:297
Diarrhea 12, With Microvillus Atrophy	Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ...	OMIM:619445
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis...	ORPHA:324964
Whipple Disease	Malabsorption, Abdominal pain, Anorexia, Cachexia, Diarrhea, Myositis, Myocarditis, Arthritis, Uv...	ORPHA:3452
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Small for gestational age	OMIM:215250
X-Linked Parkinsonism-Spasticity Syndrome	Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Diffuse cerebral ...	ORPHA:363654
Shigellosis	Abdominal cramps, Paralytic ileus, Acute colitis, Bloody mucoid diarrhea, Bloody diarrhea, Abdomi...	ORPHA:810
Riboflavin Transporter Deficiency	Dysphagia, Cachexia	ORPHA:97229
Hyperphenylalaninemia, Bh4-Deficient, D	Hypertonia, Tremor	OMIM:264070
Congenital Tufting Enteropathy	Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo...	ORPHA:92050
Diarrhea 6	Diarrhea, Abdominal pain	OMIM:614616
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap...	ORPHA:79262
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:610297
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Clumsiness	OMIM:253600
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd...	OMIM:615157
Dystonia 11, Myoclonic	Torticollis, Tremor, Myoclonus, Writer's cramp	OMIM:159900
X-Linked Creatine Transporter Deficiency	Ileus, Constipation, Aganglionic megacolon, Cachexia	ORPHA:52503
Spastic Paraplegia 6, Autosomal Dominant	Babinski sign, Degeneration of the lateral corticospinal tracts, Tremor, Spastic paraplegia, Clon...	OMIM:600363
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Tetrasomy 12P	Cachexia, Anal atresia, Abnormal soft palate morphology	ORPHA:884
Mucopolysaccharidosis-Plus Syndrome	Nephritis, Macroglossia, Recurrent pneumonia, Increased circulating IgM level, Bone marrow hypoce...	OMIM:617303
Eosinophilic Gastroenteritis	Malabsorption, Abdominal pain, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastr...	ORPHA:2070
Igg4-Related Pachymeningitis	Sinusitis, Pancreatitis, Nephritis, Complement deficiency, Lymphadenitis, Increased circulating I...	ORPHA:449427
Angioedema, Hereditary, 8	Diarrhea, Episodic vomiting, Abdominal pain	OMIM:619367
Ring Chromosome 10 Syndrome	Cachexia, Aganglionic megacolon	ORPHA:1438
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Brain atrophy, Cerebral cortical hemiatrophy, Parkinsonism, Hemiparesis, Lateral ve...	ORPHA:306669
Immunodeficiency 31C	Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Abnormal intestine morphology	OMIM:614162
Autosomal Dominant Spastic Ataxia Type 1	Hypertonia, Spastic ataxia, Limb ataxia, Babinski sign, Spastic dysarthria, Spastic paraplegia, T...	ORPHA:251282
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level	OMIM:616910
Glut1 Deficiency Syndrome 2	Ataxia, Cerebral atrophy, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reticulocytosi...	OMIM:612126
Spinocerebellar Ataxia Type 14	Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo...	ORPHA:98763
Selective Igm Deficiency	Keratitis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otitis media, Rheum...	ORPHA:331235
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f...	ORPHA:79263
Lambert Syndrome	Decreased circulating antibody level, Failure to thrive in infancy	ORPHA:1296
Aggressive Systemic Mastocytosis	Abdominal cramps, Decreased liver function, Malabsorption, Abnormal mast cell morphology, Abdomin...	ORPHA:98850
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Rheumatoid arthritis, Pustule	ORPHA:48377
Lopes-Maciel-Rodan Syndrome	Hypertonia, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasti...	OMIM:617435
Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Malabsorption, Eczematoid dermatitis, ...	ORPHA:83471
Immunodeficiency 43	Bronchiectasis, Decreased circulating IgG level	OMIM:241600
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Decreased lymphocyte apoptosis	OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Absent isohemagglutinin level, Decreased serum complement C...	OMIM:615559
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Cryptorchidism, Large for gestational age, Feeding difficulties	OMIM:616638
Juvenile Polyposis Of Infancy	Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,...	ORPHA:79076
Behr Syndrome	Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Cerebellar atrophy	OMIM:210000
Good Syndrome	Sinusitis, Recurrent skin infections, Diarrhea, Decreased circulating antibody level, Bronchiecta...	ORPHA:169105
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Gastric ulcer	OMIM:604928
Neuropathy, Congenital Hypomyelinating, 3	High palate, Cachexia, Gastroesophageal reflux	OMIM:618186
Cernunnos-Xlf Deficiency	Decreased circulating antibody level	ORPHA:169079
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Eosinophilia	OMIM:618282
Bloom Syndrome	Recurrent gastroenteritis, Esophageal neoplasm, Neoplasm of the colon, Decreased circulating IgA ...	ORPHA:125
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Decreased circulating antibody level	OMIM:301045
Prolidase Deficiency	High palate, Increased circulating antibody level, Failure to thrive, Eczema, Crusting erythemato...	OMIM:170100
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Decreased liver function, Decreased body weigh...	ORPHA:90051
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Lipodystrophy, Congenital Generalized, Type 4	Ileus, Decreased circulating IgA level, Failure to thrive, Constipation, Feeding difficulties, Py...	OMIM:613327
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Gastroesophageal reflux, Feeding difficulties in infancy, Hepati...	OMIM:613385
Congenital Enterocyte Heparan Sulfate Deficiency	Abdominal distention, Diarrhea, Hematochezia, Protein-losing enteropathy, Weight loss	ORPHA:103910
Icf Syndrome	Malabsorption, Decreased circulating antibody level, Protruding tongue, Macroglossia	ORPHA:2268
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia	OMIM:608105
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Pneumocystosis	Increased circulating antibody level, Chronic oral candidiasis, Interstitial pneumonitis, Acute i...	ORPHA:723
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
C3 Glomerulopathy	Decreased serum complement C3, Decreased serum complement C4, Membranoproliferative glomeruloneph...	ORPHA:329918
Rosaï-Dorfman Disease	Dysgammaglobulinemia	ORPHA:158014
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation	Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti...	OMIM:270500
Nk-Cell Enteropathy	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest...	ORPHA:263665
Thymic Tumor	Dysphagia, Pericarditis, Dysgammaglobulinemia	ORPHA:100100
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Eczema, Vomiting, Decreased circulating antibody level, Recurrent pneumonia, Septic arthritis	OMIM:617780
Spinocerebellar Ataxia, Autosomal Recessive 21	Ataxia, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy	OMIM:616719
Angioedema, Hereditary, 1	Intestinal edema, Abdominal pain, Decreased serum complement C4, Diarrhea, Vomiting, Decreased ci...	OMIM:106100
Neuroectodermal Melanolysosomal Disease	Hypertonia, Ataxia, Cerebral cortical atrophy, Cerebral cortical hemiatrophy, Rigidity, Tremor, S...	ORPHA:33445
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Eczematoid dermatitis, Failure to thrive, Seborrheic dermatitis	OMIM:619693
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ...	OMIM:607688
Coenzyme Q10 Deficiency, Primary, 4	Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy	OMIM:612016
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria, Cerebellar atrophy	OMIM:617917
Laryngeal Neuroendocrine Tumor	Anorexia, Weight loss, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia	ORPHA:100083
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Dystonia 28, Childhood-Onset	Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys...	OMIM:617284
Mulibrey Nanism	Cachexia	ORPHA:2576
Glucose/Galactose Malabsorption	Failure to thrive, Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds	OMIM:606824
Wells Syndrome	Eosinophilia	ORPHA:901
Isolated Agammaglobulinemia	Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Arthritis, Pneumo...	ORPHA:229717
Tularemia	Increased circulating antibody level, Conjunctivitis, Skin rash, Otitis media, Pneumonia, Cutaneo...	ORPHA:3392
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