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

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 (1211 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	Inflammation of the large intestine, Increased circulating IgE level, Mucoid diarrhea, Failure to...	OMIM:615767
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating antibody level, Recurrent otitis media, Diarrhea, Failure to thrive, Abnorm...	OMIM:618495
Masp2 Deficiency	Complement deficiency, Ulcerative colitis, Recurrent pneumonia	OMIM:613791
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Duodenitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Failure to t...	OMIM:614328
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Celiac disease, Thyroiditis, Increased circulating IgE level, Eczema	OMIM:618985
Immunodeficiency 37	Decreased circulating antibody level, Encephalitis, Colitis	OMIM:616098
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level	OMIM:617006
Secretory Component Deficiency	Secretory IgA deficiency, Chronic intestinal candidiasis, Intermittent diarrhea	OMIM:269650
Immunodeficiency 70	Decreased circulating antibody level, Furuncle, Recurrent sinusitis, Achalasia, Colitis, Decrease...	OMIM:618969
Immunodeficiency 14B, Autosomal Recessive	Inflammation of the large intestine, Chronic diarrhea, Recurrent sinusitis, Colitis, Decreased ci...	OMIM:619281
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Atopic dermatitis, Increased circulating IgE level, Cutaneous abscess, Recurrent otitis media, In...	OMIM:618944
Immunoglobulin A Deficiency 1	Malabsorption, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract	OMIM:137100
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 61	Colon cancer, Recurrent otitis media, Recurrent sinusitis, Arthritis, Agammaglobulinemia, Frequen...	OMIM:300310
Ige Responsiveness, Atopic	Eczema, Allergic rhinitis, Increased circulating IgE level	OMIM:147050
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Inflammation of the large intes...	OMIM:618108
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class...	OMIM:608106
Immunodeficiency 60	Bronchiectasis, Decreased circulating IgE, Chronic diarrhea, Ulcerative colitis, Colitis, Decreas...	OMIM:618394
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgM level, Increased circulating IgE level, Erythroder...	OMIM:610163
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgG level, Increased circulating IgA level	OMIM:144120
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Abnormality of humoral immunity, Lack of T cell function, Recurr...	ORPHA:277
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:605258
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgM level, Increased circulating IgE level, Feeding difficulties, Failure t...	OMIM:617241
Immunodeficiency With Hyper-Igm, Type 3	Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De...	OMIM:606843
Immunodeficiency 48	Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Diarrhea, Failure to thrive	OMIM:269840
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia	OMIM:153600
Agammaglobulinemia 5, Autosomal Dominant	High palate, Agammaglobulinemia	OMIM:613506
Kimura Disease	Abnormal salivary gland morphology, Increased circulating IgE level	ORPHA:482
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Igg4-Related Aortitis	Increased circulating IgE level, Abdominal pain, Increased inflammatory response, Increased circu...	ORPHA:449400
Combined Immunodeficiency Due To Dock8 Deficiency	Anal canal squamous carcinoma, Atopic dermatitis, Increased circulating IgE level, Recurrent bact...	ORPHA:217390
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Immunodeficiency 72 With Autoinflammation	Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level, Bronchi...	OMIM:618982
Severe Combined Immunodeficiency, X-Linked	Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Chronic diarrhea, Pneumonia, Hypo...	OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Acne, Decreased circulating antibody level, Co...	OMIM:300635
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Retinal Telangiectasia And Hypogammaglobulinemia	Decreased circulating IgG level, Reduced delayed hypersensitivity	OMIM:267900
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Netherton Syndrome	Allergic rhinitis, Increased circulating IgE level, Erythroderma, Villous atrophy, Failure to thr...	OMIM:256500
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Agammaglobulinemia, Diarrhea, Failure to thrive	OMIM:613501
Bare Lymphocyte Syndrome, Type Ii	Cutaneous anergy, Viral hepatitis, Villous atrophy, Panhypogammaglobulinemia, Colitis, Protracted...	OMIM:209920
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 64	Increased circulating IgM level, Defective T cell proliferation, Bronchiectasis, Increased circul...	OMIM:618534
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive	Macroglossia, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Chronic di...	OMIM:618523
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Inflammation of the large intestine, Chronic gastritis, Dysphagia, Colitis, Diarrhea, Failure to ...	OMIM:608809
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract	OMIM:609529
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Protruding tongue, Diar...	OMIM:242860
Immunodeficiency 24	Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,...	OMIM:615897
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Decreased circulating antibody level, Colitis, Recurrent sinusitis, Abnormal natural killer cell ...	OMIM:613101
Candidiasis, Familial, 2	Increased circulating IgE level, Chronic oral candidiasis	OMIM:212050
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Hyperimmunoglobulinemia D With Periodic Fever	Peritonitis, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Increased circulating IgA lev...	ORPHA:343
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Anorexia, Diarrhea, Vomiting, Abnormal intestine morphology, Decreased circulating IgG level, Sec...	OMIM:600351
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Recurrent skin infections, Failure to thrive	OMIM:617744
Iga Pemphigus	Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal...	ORPHA:555905
Immunodeficiency 11	Decreased circulating antibody level, Pneumonia	OMIM:615206
Lactose Intolerance, Adult Type	Flatulence, Abdominal pain, Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lact...	OMIM:223100
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Increased circulating IgM level, Increased circulating IgG level, Bronchi...	OMIM:619220
Immunodeficiency 27A	Increased circulating IgM level, Increased inflammatory response, Salmonella osteomyelitis, Pneum...	OMIM:209950
Angiostrongyliasis	Increased circulating IgM level, Projectile vomiting, Abdominal pain, Constipation, Nausea, Gastr...	ORPHA:74
Dyskeratosis Congenita, Autosomal Recessive 5	Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularity, Colitis	OMIM:615190
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Gastrointestinal dysmotility, Slender build, Malnutrition, Abdominal pain, Constipation, Weight l...	OMIM:613662
Immunodeficiency, Common Variable, 7	Chronic diarrhea, Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circ...	OMIM:614699
Immunodeficiency 14A, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec...	OMIM:615513
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis	OMIM:162700
Reticular Dysgenesis	Skin rash, Decreased circulating antibody level, Chronic otitis media, Weight loss, Diarrhea, Fai...	ORPHA:33355
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Erythroderma, Villous atrophy, Chronic diarrhea, Glomerulonephri...	OMIM:304790
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Chronic mucocutaneous candidia...	OMIM:147060
Immunodeficiency 15B	Decreased circulating antibody level, Chronic diarrhea, Agammaglobulinemia, Failure to thrive	OMIM:615592
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia...	OMIM:614878
Autoimmune Lymphoproliferative Syndrome, Type V	Bronchiectasis, Decreased circulating antibody level, Chronic atrophic gastritis, Psoriasiform de...	OMIM:616100
Neurodegeneration, Infantile-Onset, Biotin-Responsive	Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy	OMIM:618973
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Pyoderma Gangrenosum	Inflammation of the large intestine, Pustule, Increased circulating antibody level, Rheumatoid ar...	ORPHA:48104
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Increased circulating IgM level, Abdominal pain, Chronic diarrhea, Panniculitis, Failu...	OMIM:617099
Agammaglobulinemia 1, Autosomal Recessive	Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis...	OMIM:601495
Autoinflammation With Infantile Enterocolitis	Skin rash, Reduced natural killer cell activity, Villous atrophy, Episodic vomiting, Failure to t...	OMIM:616050
Immunodeficiency, Common Variable, 14	Defective B cell differentiation, Decreased specific antibody response to vaccination, Chronic di...	OMIM:617765
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Crohn's dis...	OMIM:266600
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Esophageal exudate, Vomiting, Allergic rhinitis, Abnormal peristalsis, Gastroesophageal reflux, N...	ORPHA:411696
Wiskott-Aldrich Syndrome, Autosomal Dominant	Inflammation of the large intestine, Increased circulating IgE level, Decreased specific anti-pol...	OMIM:600903
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Recurrent otitis media, Recurrent sinusitis, Reduced isohemagglu...	OMIM:613493
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption	OMIM:152800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgE level, Increased circulating antibody level, Erythroderma, Chronic diar...	ORPHA:169154
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level	OMIM:242870
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Decreased circulating antibody level, Agammaglobulinemia	OMIM:616911
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Increased circulating IgM level, Aplasia of the eccrine sweat gla...	OMIM:300291
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgE level, Defective T cell proliferation, Bloody diarrhea, Anoperineal fis...	OMIM:618213
Immunodeficiency With Hyper-Igm, Type 1	Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Sc...	OMIM:308230
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	Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Chronic o...	OMIM:606367
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Nausea, Neoplasm of the liver, Weight loss, Vomiting, Increased hepatitis B virus...	ORPHA:90003
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent aphthous stomatitis, Increased circulating IgM level	ORPHA:2688
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Leukoencephalopathy with metaphyseal chondrodysplasia	Spastic paraplegia, Tremor, Abnormal cerebral white matter morphology, Leukoencephalopathy, Babin...	OMIM:300660
Episodic Ataxia, Type 1	Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign	OMIM:160120
Autosomal Recessive Spastic Paraplegia Type 71	Hypoplasia of the corpus callosum, Lower limb spasticity, Spastic gait, Babinski sign, Hand tremo...	ORPHA:401840
Agammaglobulinemia 4, Autosomal Recessive	Chronic sinusitis, Recurrent otitis media, Agammaglobulinemia, Diarrhea, Recurrent pneumonia	OMIM:613502
Agammaglobulinemia 6, Autosomal Recessive	Chronic sinusitis, Recurrent otitis media, Conjunctivitis, Agammaglobulinemia, Diarrhea, Recurren...	OMIM:612692
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level...	OMIM:601859
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Bronchiectasis, Decreased specific antibody response to vacc...	OMIM:614700
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Abdominal distention, Secretory diarrhea	OMIM:616868
Spinocerebellar Ataxia Type 15/16	Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ...	ORPHA:98769
Inflammatory Bowel Disease (Crohn Disease) 30	Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P...	OMIM:619079
Hyperlipoproteinemia, Type Id	Failure to thrive, Colitis	OMIM:615947
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgM level, Gastrointestinal hemorrhage, Increased circulating IgA level, In...	OMIM:603909
Immunodeficiency 58	Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Helicob...	OMIM:618131
Boutonneuse Fever	Skin rash, Increased circulating IgM level, Abdominal pain, Nausea, Maculopapular exanthema, Incr...	ORPHA:83313
5-Oxoprolinase Deficiency	Vomiting, Enterocolitis, Diarrhea, Abdominal pain	OMIM:260005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Purulent rhinitis, Panhypogammaglobulinemia,...	OMIM:601457
Immunodeficiency, Common Variable, 1	Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Impaired T cell function,...	OMIM:607594
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Punctate keratitis, Increased circulating IgG level, Keratoconjunctivitis s...	OMIM:617388
Agammaglobulinemia 2, Autosomal Recessive	Agammaglobulinemia, Recurrent pneumonia	OMIM:613500
Netherton Syndrome	Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Erythroderma, E...	ORPHA:634
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Malabsorption	ORPHA:99811
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy	OMIM:618987
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:247630
Optic Atrophy 2	Dysdiadochokinesis, Tremor, Babinski sign	OMIM:311050
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, Increased circulat...	ORPHA:169160
Peeling Skin Syndrome 1	Increased circulating IgE level	OMIM:270300
Lymphoproliferative Syndrome, X-Linked, 1	Increased circulating IgM level, Decreased circulating antibody level, Fulminant hepatitis, Dysga...	OMIM:308240
Pgm3-Cdg	Cutaneous abscess, Bronchiectasis, Increased circulating IgG level, Chronic sinusitis, Reduced an...	ORPHA:443811
Leukoencephalopathy, Brain Calcifications, And Cysts	Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia...	OMIM:614561
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Bronchiectasi...	OMIM:240500
Leukoencephalopathy, Progressive, With Ovarian Failure	Tremor, Apraxia, Neurodegeneration, Ataxia, Progressive leukoencephalopathy, Periventricular leuk...	OMIM:615889
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Recurrent sinusitis, Decreased circulating IgG level, Psoriasiform dermat...	OMIM:615577
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Okur-Chung Neurodevelopmental Syndrome	Feeding difficulties, Decreased circulating antibody level, Constipation, Decreased circulating I...	OMIM:617062
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Abdominal pain, Hematochezia, Weight loss, Diarrhea	OMIM:191390
Carcinoma Of Esophagus	Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Weight loss, Abnormal intestine morpholo...	ORPHA:70482
Schnitzler Syndrome	Skin rash, Increased circulating IgM level, Arthritis	ORPHA:37748
Autoimmune Hepatitis	Inflammation of the large intestine, Acute hepatitis, Gastrointestinal hemorrhage, Abdominal pain...	ORPHA:2137
Pseudomyxoma Peritonei	Inflammation of the large intestine, Abdominal pain, Constipation, Weight loss, Nausea and vomiti...	ORPHA:26790
Alpha-Heavy Chain Disease	Abdominal pain, Dysgammaglobulinemia, Abnormality of the small intestine, Malabsorption, Prematur...	ORPHA:100025
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Ataxia, Babinski sign, Leukoencephalopathy, Spasticity	OMIM:611105
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pneumonia...	ORPHA:37042
Cirrhosis, Familial	Increased circulating antibody level, Hepatitis, Chronic active hepatitis	OMIM:118900
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia	OMIM:613227
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent gastroenteritis, Chronic oral candidiasis, Hashimoto thyroiditis, Juvenile r...	ORPHA:275
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Glomerulonephritis, Pneumonia	OMIM:247800
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Increased inflammatory response, Increased circulating antibody level, Myositis, Crohn's...	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
Immunodeficiency 23	Increased circulating IgM level, Increased circulating IgE level, Allergic rhinitis, Bronchiectas...	OMIM:615816
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss, Arthralgia/arthritis	ORPHA:411593
Xq28 (MECP2) duplication	Dysphagia, Constipation, Gastroesophageal reflux, Decreased circulating IgA level, Failure to thr...	DECIPHER:45
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, High palate, Pneumonia	OMIM:614069
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Pneumonia, Otitis media, Sinusitis	OMIM:312863
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Primary Biliary Cholangitis	Gastrointestinal inflammation, Increased circulating IgM level, Hepatocellular carcinoma, Hepatit...	ORPHA:186
Eosinophilia, Familial	Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia	OMIM:131400
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Recurrent pneumonia, Increased circulating IgE level, Decrea...	OMIM:301000
Immunodeficiency 50	Decreased circulating antibody level, Eczema	OMIM:300988
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A...	OMIM:202700
Hirschsprung Disease, Susceptibility To, 1	Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero...	OMIM:142623
Spinocerebellar Ataxia 43	Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Rigidity	OMIM:617018
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Aplasia of the thymus, Increased circulating IgE level, Decreased circulating IgG2 level, Pneumon...	OMIM:102700
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia	Neutropenia, Eosinophilia	OMIM:257100
Autosomal Agammaglobulinemia	Skin rash, Bronchiectasis, Chronic otitis media, Conjunctivitis, Hepatitis, Agammaglobulinemia, D...	ORPHA:33110
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy,...	OMIM:617862
Leukodystrophy, Hypomyelinating, 11	Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebellar atrophy, Spasticity	OMIM:616494
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Hematochezia, Pyoderma, Colitis, Crohn's disease, Perianal abscess, Enterocolitis	OMIM:613148
Hyper-Igd Syndrome	Skin rash, Serositis, Chronic oral candidiasis, Abdominal pain, Lymphadenitis, Chronic diarrhea, ...	OMIM:260920
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Intestinal perforation, Malnutrition, Abdominal pain, Constipation, Weight loss, C...	OMIM:603041
Sting-Associated Vasculopathy, Infantile-Onset	Skin rash, Pustule, Increased circulating IgG level, Malar rash, Pustular rash, Failure to thrive...	OMIM:615934
Episodic Ataxia With Slurred Speech	Tremor, Gait ataxia, Slurred speech	ORPHA:401953
O'Sullivan-Mcleod Syndrome	Fasciculations, Tremor, Atrophy of the spinal cord, Eosinophilia	ORPHA:99965
Multiple Myeloma	Decreased circulating antibody level, Weight loss, Functional abnormality of the gastrointestinal...	ORPHA:29073
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Skin rash, Chronic oral candidiasis, Recurrent bacterial skin infections, Pneumonia, Recurrent cu...	ORPHA:276
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:859
Secondary Short Bowel Syndrome	Malnutrition, Small intestinal dysmotility, Villous atrophy, Constipation, Aganglionic megacolon,...	ORPHA:95427
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Urban-Rogers-Meyer Syndrome	Cryptorchidism, Increased circulating IgE level, Obesity	ORPHA:3409
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Increased circulating IgM level, Interface hepatitis, Granul...	ORPHA:562639
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Skin rash, Pustule, Chronic oral candidiasis, Partial IgA deficiency, Lack of T cell function, Ch...	ORPHA:35078
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Malabsorption	ORPHA:1116
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating antibody level, Skin rash, Failure to thrive	OMIM:618048
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, ...	ORPHA:2198
Spinocerebellar Ataxia Type 20	Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Cer...	ORPHA:101110
Igg4-Related Submandibular Gland Disease	Prostatitis, Enlarged lacrimal glands, Increased circulating IgE level, Sialadenitis, Increased c...	ORPHA:449432
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting, Abnormal intestine morpho...	OMIM:606528
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Aspergillosis	Increased circulating IgE level, Bronchiectasis, Abnormal esophagus morphology, Pneumonia, Hepati...	ORPHA:1163
Tremor, Hereditary Essential, 6	Head tremor, Postural tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Tremor, Hereditary Essential, 5	Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor	OMIM:616736
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Agammaglobulinemia	OMIM:200900
Cronkhite-Canada Syndrome	Abdominal pain, Gastrointestinal carcinoma, Anorexia, Furrowed tongue, Stomach cancer, Intestinal...	ORPHA:2930
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Panhypogammaglobulinemia, Pneumonia, Diarrhea, Failure to thrive, Otitis m...	OMIM:602450
X-Linked Lymphoproliferative Disease	Increased proportion of CD25+ mast cells, Inflammation of the large intestine, Increased circulat...	ORPHA:2442
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Erythema Elevatum Diutinum	Increased circulating antibody level, Skin rash	ORPHA:90000
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Small for gestational age	OMIM:300076
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia	OMIM:615214
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis	OMIM:613960
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Cystic Fibrosis	Decreased circulating antibody level, Malabsorption, Exocrine pancreatic insufficiency	ORPHA:586
Spinocerebellar Ataxia Type 31	Tremor, Gait ataxia, Cerebellar atrophy, Spasticity	ORPHA:217012
Combined Immunodeficiency Due To Zap70 Deficiency	Skin rash, Chronic oral candidiasis, Lymphadenitis, Recurrent bacterial skin infections, Chronic ...	ORPHA:911
Spinocerebellar Ataxia 23	Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Agenesis of corpu...	OMIM:610245
Immunodeficiency 46	Chronic oral candidiasis, Decreased circulating antibody level, Chronic diarrhea, Conjunctivitis,...	OMIM:616740
Acute Myelomonocytic Leukemia	Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia	ORPHA:517
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Abdominal pain, Dysphagia, Abnormality of the gastrointestinal trac...	ORPHA:298
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Spastic paraplegia, Tremor	OMIM:309560
Visceral Myopathy 2	Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat...	OMIM:619350
Immunodeficiency, Common Variable, 12, With Autoimmunity	Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Chronic atrophic gastr...	OMIM:616576
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Recurrent otitis media, Chronic diarrhea, Panhypogammaglobulinemia, Pneumonia, ...	OMIM:600802
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Failure to thrive	OMIM:615285
Autoimmune Lymphoproliferative Syndrome	Abnormal serum interleukin level, Decreased specific anti-polysaccharide antibody level, Thyroidi...	ORPHA:3261
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Myoclonus, Babi...	OMIM:615362
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Familial Hemophagocytic Lymphohistiocytosis	Skin rash, Increased serum interferon-gamma level, Decreased circulating antibody level, Erythrod...	ORPHA:540
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Agammaglobulinemia 8, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia	OMIM:616941
Adult-Onset Nemaline Myopathy	High palate, Neuromuscular dysphagia, Paraproteinemia, Feeding difficulties	ORPHA:171442
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Colitis	ORPHA:88643
Spinocerebellar Ataxia 37	Cerebellar atrophy, Tremor, Frequent falls, Ataxia	OMIM:615945
Thrombocytopenia 1	Eczema, Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
X-Linked Agammaglobulinemia	Skin rash, Recurrent pneumonia, Chronic diarrhea, Chronic otitis media, Weight loss, Conjunctivit...	ORPHA:47
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis	OMIM:193670
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-...	ORPHA:1876
Trichohepatoenteric Syndrome 2	Villous atrophy, Colitis, Hepatitis, Diarrhea, Small for gestational age, Failure to thrive	OMIM:614602
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin	ORPHA:90159
Transcobalamin Ii Deficiency	Vomiting, Diarrhea, Decreased circulating IgA level, Failure to thrive, Decreased circulating tot...	OMIM:275350
Insulin-Resistance Syndrome Type B	Skin rash, Enlarged ovaries, Decreased serum complement factor B, Abnormality of body weight, Abn...	ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Chron...	OMIM:614576
Glutathionuria	Tremor	OMIM:231950
Mu-Heavy Chain Disease	Increased circulating antibody level, Weight loss	ORPHA:100024
Immunodeficiency 76	Recurrent pneumonia, Chronic diarrhea, Colitis	OMIM:619164
Spinocerebellar Ataxia, Autosomal Recessive 4	Tremor, Gait ataxia, Abnormal cerebral white matter morphology, Ataxia, Myoclonus, Babinski sign,...	OMIM:607317
Autosomal Dominant Hyper-Ige Syndrome	Skin rash, Increased circulating IgE level, Chronic otitis media, Cleft palate, Eczema, Osteomyel...	ORPHA:2314
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Abdominal pain, Decreased circulating antibody level, Pneumonia, Diarrhea, Vomiting, Abnormal int...	OMIM:226300
Spinocerebellar Ataxia 20	Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor	OMIM:608687
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Hereditary Folate Malabsorption	Glossitis, Decreased circulating antibody level, Gastroesophageal reflux, Cheilitis, Anorexia, Di...	ORPHA:90045
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Glossitis, Hematochezia, Abdominal pain, Gastrointestinal carcinoma, Protein-losing enteropathy, ...	OMIM:175500
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Frequent falls, Chorea, Tremor, Hemiballismus	ORPHA:494526
Diarrhea 9	Villous atrophy, Diarrhea, Failure to thrive	OMIM:618168
Parkinson Disease 2, Autosomal Recessive Juvenile	Tremor, Cerebral atrophy, Bradykinesia, Parkinsonism, Substantia nigra gliosis, Rigidity	OMIM:600116
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Myoclonus, Ataxia	OMIM:616187
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Bronchiectasis, Chronic diarrhea, Failure to thrive in infancy, Colitis, Increased circulating in...	OMIM:301220
Chilblain Lupus	Skin rash, Increased circulating antibody level, Discoid lupus rash, Malar rash, Inflammatory abn...	ORPHA:90280
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Weight loss, Anorexia	ORPHA:52416
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Spinocerebellar Ataxia Type 12	Postural tremor, Limb dysmetria, Poor fine motor coordination, Cerebral atrophy, Abnormal pyramid...	ORPHA:98762
Zika Virus Disease	Skin rash, Increased circulating IgM level, Myelitis, Maculopapular exanthema, Conjunctivitis, En...	ORPHA:448237
Caffey Disease	Increased circulating antibody level, Feeding difficulties in infancy	ORPHA:1310
T-Cell Receptor-Alpha/Beta Deficiency	Hypereosinophilia	OMIM:615387
Autoinflammatory Syndrome, Familial, Behcet-Like	Skin rash, Ileal ulcer, Anterior uveitis, Colitis	OMIM:616744
Hirschsprung Disease	Abdominal pain, Constipation, Aganglionic megacolon, Weight loss, Failure to thrive in infancy, F...	ORPHA:388
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Splenomegaly	OMIM:607685
Neuronopathy, Distal Hereditary Motor, Type Viia	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Sucrase-Isomaltase Deficiency, Congenital	Malabsorption, Diarrhea, Abdominal pain	OMIM:222900
Pulmonary Nodular Lymphoid Hyperplasia, Familial	Increased circulating antibody level, Rheumatoid arthritis	OMIM:178610
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Small for gestational age, Failure to thrive, Intractable diarrhea, Arthritis	OMIM:613217
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia	ORPHA:157991
Spinocerebellar Ataxia Type 38	Tremor, Gait ataxia, Cerebellar atrophy	ORPHA:423296
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Lead Poisoning	Skin rash, Increased circulating IgE level, Abdominal cramps, Abdominal pain, Abnormality of humo...	ORPHA:330015
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Apraxia, Hypoplasia of the corpus callosum, Cerebral atrophy, Bradykinesia, Action tremor, Cerebe...	OMIM:300423
Igg4-Related Kidney Disease	Increased circulating IgG1 level, Pericarditis, Interstitial pneumonitis, Urinary bladder inflamm...	ORPHA:449395
Idiopathic Achalasia	Malnutrition, Dysphagia, Gastroesophageal reflux, Weight loss, Recurrent aspiration pneumonia	ORPHA:930
Spastic Ataxia 2, Autosomal Recessive	Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig...	OMIM:611302
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Weight loss, Cachexia, Feeding difficulties	OMIM:612075
Aicardi-Goutieres Syndrome 7	Increased circulating antibody level, Atopic dermatitis, Feeding difficulties	OMIM:615846
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis	OMIM:612567
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Skin rash, Decreased circulating total IgM, Decreased circulating antibody level, Lymphadenitis, ...	ORPHA:331206
Wolman Disease	Malnutrition, Steatorrhea, Esophageal varix, Cachexia, Hepatic failure, Nausea and vomiting, Abdo...	ORPHA:75233
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Immunodeficiency By Defective Expression Of Mhc Class Ii	Skin rash, Chronic hepatitis due to cryptosporidium infection, Abnormality of humoral immunity, L...	ORPHA:572
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Protuberant abdomen, Lactose intolerance, Decreased circulating IgA level, Intest...	ORPHA:457485
Encephalopathy, Progressive, With Or Without Lipodystrophy	Tremor, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Myoclonus, Neuronal loss...	OMIM:615924
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Hemiplegia, Eosinophilia	OMIM:243700
Immunodeficiency 19	Recurrent otitis media, Diarrhea, Failure to thrive	OMIM:615617
Diarrhea 2, With Microvillus Atrophy	Protracted diarrhea, Villous atrophy, Malnutrition, Abnormal intestine morphology	OMIM:251850
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Hyperintensity of cereb...	ORPHA:521406
Enterocolitis	Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia	OMIM:226150
Hypermanganesemia With Dystonia 2	Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Cerebellar atrophy, Parkinsonism, Babinski ...	OMIM:617013
Parkinsonism With Spasticity, X-Linked	Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity	OMIM:300911
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Abnormal caudate nucleus morphology, Parkinsonism with favorable respons...	ORPHA:314632
Migraine, Familial Hemiplegic, 1	Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy	OMIM:141500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Immune Deficiency Disease	Decreased circulating total IgM, Cholangitis, Fulminant hepatitis	OMIM:242850
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Aicardi-Goutieres Syndrome 6	Tremor, Hemolytic anemia, Cerebral calcification, Microcephaly, Rigidity	OMIM:615010
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Interstitial pneumonitis, Decreased circulating antibody level...	OMIM:615952
Mental Retardation, Autosomal Recessive 6	Involuntary movements, Tremor, Myoclonus	OMIM:611092
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Diarrhea, Failure to thrive, Decreased testicular size, Poor appetite	OMIM:201100
Celiac Disease, Susceptibility To, 1	Abdominal pain, Thyroiditis, Stomatitis, Steatorrhea, Weight loss, Diarrhea, Decreased circulatin...	OMIM:212750
Desmoplastic Small Round Cell Tumor	Ovarian neoplasm, Abdominal pain, Weight loss, Cachexia, Ileus, Testicular neoplasm, Nausea and v...	ORPHA:83469
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Chronic diarrhea, Steatorrhea, Cachexia, Malabsorption, Duodenal ulcer	ORPHA:3217
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Colitis, Cystic acne, Arthritis, Acne, Sterile arthritis	OMIM:604416
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Protein-losing enteropathy, Diarrhea, Failure to thrive, Vomiting	OMIM:615863
Dystonia 3, Torsion, X-Linked	Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication	OMIM:314250
Segawa Syndrome, Autosomal Recessive	Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality...	OMIM:605407
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Impaired oxidative burst, Ulcerative colitis, Acute pancreatitis, Perianal abscess...	OMIM:618935
Congenital Short Bowel Syndrome	Decreased intestinal transit time, Abnormal peristalsis, Chronic diarrhea, Intestinal malrotation...	OMIM:615237
Primary Intestinal Lymphangiectasia	Abdominal pain, Decreased circulating antibody level, Weight loss, Diarrhea, Ileus, Failure to th...	ORPHA:90362
Halothane Hepatitis	Eosinophilia	OMIM:234350
Neurodegeneration With Brain Iron Accumulation 5	Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atrophy, Neur...	OMIM:300894
X-Linked Parkinsonism-Spasticity Syndrome	Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign...	ORPHA:363654
Diverticulosis, Small-Intestinal	Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic...	OMIM:223320
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Osteomyelitis, Bronchiectasis, Recurrent infection of the...	OMIM:608184
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Cerebellar atrophy, Babinski sign, Spasticity	OMIM:615768
Parkinson Disease 14, Autosomal Recessive	Tremor, Apraxia, Clumsiness, Global brain atrophy, Bradykinesia, Frontotemporal cerebral atrophy,...	OMIM:612953
Spinocerebellar Ataxia 12	Dysdiadochokinesis, Head tremor, Action tremor, Cerebral cortical atrophy, Progressive cerebellar...	OMIM:604326
Igg4-Related Ophthalmic Disease	Prostatitis, Enlarged lacrimal glands, Increased circulating IgE level, Sialadenitis, Abnormality...	ORPHA:449563
Spinocerebellar Ataxia Type 37	Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar...	ORPHA:363710
Maternal Uniparental Disomy Of Chromosome 1	Failure to thrive, Gastroesophageal reflux, Panhypogammaglobulinemia, Feeding difficulties	ORPHA:251009
Lichtenstein-Knorr Syndrome	Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria	OMIM:616291
Primary Sclerosing Cholangitis	Polyclonal elevation of IgM, Abdominal pain, Thyroiditis, Hepatocellular carcinoma, Ulcerative co...	ORPHA:171
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra...	OMIM:260300
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Action tremor, Ataxia, Intention tremor	OMIM:302500
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level, Cleft palate	ORPHA:85317
Brucellosis	Pericarditis, Pneumonia, Weight loss, Anorexia, Increased circulating IgG level, Small for gestat...	ORPHA:1304
Immunodeficiency 59 And Hypoglycemia	Acne inversa, Arteritis, Decreased circulating antibody level, Stomatitis, Diarrhea, Encephalitis...	OMIM:233600
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:251190
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ...	OMIM:618261
Christianson Syndrome	Dysphagia, Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia	ORPHA:85278
Spinocerebellar Ataxia 48	Dysphagia, Cachexia	OMIM:618093
Spinocerebellar Ataxia 18	Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Babinski sign, Dysmetria	OMIM:607458
Laryngotracheoesophageal Cleft Type 4	Tracheoesophageal fistula, Cachexia, Intestinal atresia	ORPHA:93941
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Pulmonary Fibrosis, Idiopathic	Increased circulating antibody level	OMIM:178500
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Bone Marrow Failure Syndrome 5	Decreased circulating antibody level, Testicular atrophy	OMIM:618165
Syndromic Diarrhea	Villous atrophy, Panhypogammaglobulinemia, Colitis, Hypoplasia of the thymus, Small for gestation...	ORPHA:84064
Cap Polyposis	Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Weight loss, Colorectal p...	ORPHA:160148
Proteasome-Associated Autoinflammatory Syndrome 1	Macroglossia, Epididymitis, Increased serum interferon-gamma level, Protuberant abdomen, Increase...	OMIM:256040
Trichinellosis	Skin rash, Increased circulating IgE level, Dysphagia, Nausea, Conjunctivitis	ORPHA:863
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Hypertonia, Cerebral calcification, Myoclonus, Microcephaly, Choreoathetosis	OMIM:261630
Glut1 Deficiency Syndrome 2	Tremor, Reticulocytosis, Cerebral atrophy, Ataxia, Choreoathetosis	OMIM:612126
Immunodeficiency 52	Decreased circulating antibody level, Bronchiectasis, Failure to thrive, Recurrent pneumonia	OMIM:617514
Immunodeficiency, Common Variable, 6	Chronic decreased circulating total IgG, Glomerulonephritis, Complete or near-complete absence of...	OMIM:613496
Ménétrier Disease	Multiple gastric polyps, Malnutrition, Gastrointestinal hemorrhage, Abdominal pain, Helicobacter ...	ORPHA:2494
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis	OMIM:618425
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute colitis, Peritonitis, Intestinal perforation, Intussusception, Abdominal pain, Colonic sten...	ORPHA:90038
Developmental And Epileptic Encephalopathy 32	Tremor, Myoclonus, Ataxia	OMIM:616366
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity	ORPHA:401901
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia	OMIM:610297
Monomelic Amyotrophy	Fasciculations, Tremor, Degeneration of anterior horn cells	ORPHA:65684
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Constrictive pericarditis, Abdominal pain, Weight loss, Protracted diarrhea, Diarr...	ORPHA:67
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Spasticity	OMIM:618092
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Clumsiness, Eosinophilia	OMIM:253600
Tick-Borne Encephalitis	Increased circulating IgM level, Myelitis, Dysphagia, Nausea, Abnormality of serum cytokine level...	ORPHA:297
Leishmaniasis	Increased circulating antibody level, Rhinitis, Weight loss, Anorexia	ORPHA:507
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Decreased circulating IgA level	OMIM:215250
Lipodystrophy, Congenital Generalized, Type 4	Feeding difficulties, Dysphagia, Constipation, Decreased circulating IgA level, Ileus, Failure to...	OMIM:613327
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Parkinsoni...	ORPHA:306692
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor	OMIM:614369
Mental Retardation, Autosomal Dominant 55, With Seizures	Tremor, Gait ataxia	OMIM:617831
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Tremor, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculat...	OMIM:618170
Secondary Intestinal Lymphangiectasia	Decreased circulating antibody level, Malabsorption, Recurrent skin infections, Arthritis	ORPHA:90363
Renpenning Syndrome	Anal atresia, Cachexia, Cleft palate, Decreased testicular size, High, narrow palate	ORPHA:3242
Majeed Syndrome	Pustule, Synovitis, Weight loss, Abnormal inflammatory response, Cachexia, Failure to thrive, Mal...	ORPHA:77297
Shigellosis	Acute colitis, Paralytic ileus, Peritonitis, Intestinal perforation, Tenesmus, Abdominal cramps, ...	ORPHA:810
Autosomal Spastic Paraplegia Type 58	Tremor, Gait ataxia, Clonus, Spastic ataxia, Chorea, Abnormal cerebral white matter morphology, C...	ORPHA:397946
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Tremor, Lower limb spastici...	OMIM:600363
Adult Neuronal Ceroid Lipofuscinosis	Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia...	ORPHA:79262
Bile Acid Malabsorption, Primary, 1	Fat malabsorption, Chronic diarrhea, Failure to thrive, Steatorrhea	OMIM:613291
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Weight loss, Psori...	ORPHA:324964
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Tremor	OMIM:611808
Diarrhea 6	Diarrhea, Abdominal pain	OMIM:614616
Waldenström Macroglobulinemia	Cryoglobulinemia, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Anorexia,...	ORPHA:33226
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Abnormality of T cell physiology, Enlarged lacrimal glands, ...	OMIM:181000
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Dysdiadochokinesis, Tremor, Apraxia, Incoordination, Spastic paraparesis, Cerebral atrophy, Neuro...	OMIM:615157
Immunodeficiency 43	Decreased circulating IgG level, Bronchiectasis	OMIM:241600
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Neurodegeneration With Brain Iron Accumulation 8	Dysmetria, Tremor, Cerebellar atrophy, Ataxia	OMIM:617917
Roifman Syndrome	Hypoplasia of the corpus callosum, Hippocampal atrophy, Microcephaly, Hepatosplenomegaly, Eosinop...	ORPHA:353298
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Decreased circulating antibody level, Cryptorchidism, Agammaglobulinemia	OMIM:616910
Pfapa Syndrome	Abdominal pain, Weight loss, Encephalitis, Nausea and vomiting, Malabsorption, Arthritis	ORPHA:42642
Spinocerebellar Ataxia Type 14	Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Myocl...	ORPHA:98763
Whipple Disease	Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Uveitis, Anorexia, Diarrhea, Cachexia,...	ORPHA:3452
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Neuroectodermal Melanolysosomal Disease	Tremor, Hypertonia, Ataxia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cor...	ORPHA:33445
Riboflavin Transporter Deficiency	Dysphagia, Cachexia	ORPHA:97229
Angioedema, Hereditary, 8	Episodic vomiting, Diarrhea, Abdominal pain	OMIM:619367
Mucopolysaccharidosis-Plus Syndrome	Macroglossia, Increased circulating IgM level, Recurrent pneumonia, Bone marrow hypocellularity, ...	OMIM:617303
Good Syndrome	Bronchiectasis, Dysphagia, Decreased circulating antibody level, Diarrhea, Sinusitis, Recurrent s...	ORPHA:169105
Lambert Syndrome	Decreased circulating antibody level, Failure to thrive in infancy	ORPHA:1296
Optic Atrophy 3, Autosomal Dominant	Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Igg4-Related Pachymeningitis	Lymphadenitis, Dysphagia, Increased circulating IgG4 level, Complement deficiency, Pancreatitis, ...	ORPHA:449427
Lichtenstein Syndrome	Decreased circulating IgA level	OMIM:246550
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Hematochezia, Abdominal pain, Dysphagia, Abnormality of the...	ORPHA:2070
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Bloom Syndrome	Cryptorchidism, Bronchiectasis, Malar rash, Small for gestational age, Decreased circulating IgA ...	OMIM:210900
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Leukoencephalopathy	OMIM:618387
Selective Igm Deficiency	Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s...	ORPHA:331235
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Hypoplasia of the corpus callosum, Cerebellar atrophy, Dysmetria, Rigidity	OMIM:618090
Immunodeficiency 31C	Villous atrophy, Diarrhea, Chronic mucocutaneous candidiasis, Eczema, Abnormal intestine morphology	OMIM:614162
Smith-Kingsmore Syndrome	Cryptorchidism, Large for gestational age, Decreased circulating IgA level, Feeding difficulties	OMIM:616638
X-Linked Creatine Transporter Deficiency	Constipation, Aganglionic megacolon, Cachexia, Ileus	ORPHA:52503
Bloom Syndrome	Poor appetite, Skin rash, Recurrent gastroenteritis, Decreased circulating antibody level, Gastro...	ORPHA:125
Behr Syndrome	Tremor, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spasticity	OMIM:210000
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased serum complement C3, Increased circulating antibody level, Decreased serum complement C...	OMIM:615559
Tetrasomy 12P	Anal atresia, Cachexia, Abnormal soft palate morphology	ORPHA:884
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Decreased lymphocyte apoptosis	OMIM:614470
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Rheumatoid arthritis, Pustule	ORPHA:48377
Infantile Neuronal Ceroid Lipofuscinosis	Tremor, Clumsiness, Chorea, Poor fine motor coordination, Cerebral atrophy, Ataxia, Brain atrophy...	ORPHA:79263
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Chronic diarrhea, Pyoderma, Failure...	OMIM:242700
Hemiparkinsonism-Hemiatrophy Syndrome	Tremor, Hemiparesis, Bradykinesia, Brain atrophy, Parkinsonism, Cerebral cortical hemiatrophy, Di...	ORPHA:306669
Wolfram Syndrome 2	Decreased circulating antibody level, Gastric ulcer, Impaired collagen-induced platelet aggregation	OMIM:604928
Immunodeficiency 36	Decreased circulating antibody level, Chronic diarrhea, Bronchiectasis	OMIM:616005
Aggressive Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Abdominal cramps, Abdomina...	ORPHA:98850
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Prostatitis, Epididymitis, Recurrent otitis media, Panhypogammaglobulinemia, Pneumonia, Septic ar...	OMIM:307200
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Icf Syndrome	Protruding tongue, Decreased circulating antibody level, Macroglossia, Malabsorption	ORPHA:2268
Combined Oxidative Phosphorylation Deficiency 45	Abnormal cerebral white matter morphology, Tremor, Ataxia	OMIM:618951
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Decreased liver function	OMIM:301045
Dystonia, Dopa-Responsive	Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism...	OMIM:128230
Xeroderma Pigmentosum, Complementation Group G	Microcephaly, Tremor, Ataxia, Spasticity	OMIM:278780
Rosaï-Dorfman Disease	Dysgammaglobulinemia	ORPHA:158014
Myotonic Dystrophy 2	Decreased circulating total IgM, Elevated circulating follicle stimulating hormone level, Decreas...	OMIM:602668
Prolidase Deficiency	Increased circulating antibody level, Crusting erythematous dermatitis, Failure to thrive, Recurr...	OMIM:170100
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation	Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp...	OMIM:270500
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Splenomegaly, Frequent falls, Spasticity	OMIM:616719
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Decreased serum complement C3, Paraproteinemia, Decreas...	ORPHA:329918
Sepsis In Premature Infants	Decreased body weight, Increased circulating interleukin 6, Functional abnormality of the gastroi...	ORPHA:90051
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Spastic gait, Lower limb spa...	ORPHA:251282
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Bone marrow hypocellularity, Eczema	OMIM:618116
Pneumocystosis	Chronic oral candidiasis, Interstitial pneumonitis, Increased circulating antibody level, Acute i...	ORPHA:723
Lopes-Maciel-Rodan Syndrome	Tremor, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Cerebe...	OMIM:617435
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Chronic diarrhea, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Failure to thrive...	OMIM:613385
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Weight loss, Protein-losing enteropathy, Diarrhea, Abdominal distention	ORPHA:103910
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Spinal Muscular Atrophy, Jokela Type	Fasciculations, Tremor	OMIM:615048
Spastic Paraplegia 78, Autosomal Recessive	Spastic paraplegia, Gait ataxia, Abnormal periventricular white matter morphology, Abnormal pyram...	OMIM:617225
Intellectual Developmental Disorder, X-Linked 104	Tremor, Hypoplasia of the corpus callosum, Ataxia, Cerebral cortical atrophy, Spasticity	OMIM:300983
Thymic Tumor	Dysphagia, Dysgammaglobulinemia, Pericarditis	ORPHA:100100
Wells Syndrome	Eosinophilia	ORPHA:901
Nk-Cell Enteropathy	Gastric ulcer, Hematochezia, Abdominal pain, Constipation, Gastroesophageal reflux, Diarrhea, Abn...	ORPHA:263665
Cernunnos-Xlf Deficiency	Decreased circulating antibody level	ORPHA:169079
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Decreased circulating antibody level, Septic arthritis, Recurrent pneumonia, Vomiting, Eczema	OMIM:617780
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus	OMIM:612016
Eosinophil Peroxidase Deficiency	Abnormal eosinophil morphology	OMIM:261500
Juvenile Polyposis Of Infancy	Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hematochezia, Intussus...	ORPHA:79076
Pulmonary Blastoma	Weight loss, Recurrent pneumonia	ORPHA:64741
Glucose/Galactose Malabsorption	Chronic diarrhea, Hyperactive bowel sounds, Failure to thrive, Malabsorption, Abdominal distention	OMIM:606824
Parkinson Disease 19A, Juvenile-Onset	Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity	OMIM:615528
Riddle Syndrome	Recurrent pneumonia, Abdominal pain, Recurrent sinusitis, Pneumonia, Weight loss, Diarrhea, Decre...	ORPHA:420741
Agammaglobulinemia, X-Linked	Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct...	OMIM:300755
Mulibrey Nanism	Cachexia	ORPHA:2576
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Abnormal intestine morphology, Diarrhea	OMIM:609313
Beta-Propeller Protein-Associated Neurodegeneration	Tremor, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Iron accumulation in substantia nigr...	ORPHA:329284
Epilepsy, Progressive Myoclonic, 1B	Tremor, Babinski sign, Dysmetria	OMIM:612437
Paralysis Agitans, Juvenile, Of Hunt	Tremor, Parkinsonism, Rigidity, Bradykinesia	OMIM:168100
Rabies	Nausea and vomiting, Diarrhea, Anorexia	ORPHA:770
Vici Syndrome	Feeding difficulties, Decreased circulating IgG2 level, High palate, Feeding difficulties in infa...	ORPHA:1493
Trichothiodystrophy 1, Photosensitive	Erythroderma, Chronic diarrhea, Keratoconjunctivitis sicca, Small for gestational age, Decreased ...	OMIM:601675
Tularemia	Skin rash, Cutaneous abscess, Increased circulating antibody level, Pneumonia, Conjunctivitis, In...	ORPHA:3392
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Eosinophilia	OMIM:618282
Roifman Syndrome	Microcephaly, Eosinophilia, Splenomegaly	OMIM:616651
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Anorexia, Weight loss, Oral-pharyngeal dysphagia	ORPHA:100083
Alpha-Methylacyl-Coa Racemase Deficiency	Tremor, Ataxia, Spasticity	OMIM:614307
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Eosinophilic liver infiltration, Membranous nephropathy, Failure to thrive, Co...	OMIM:618999
Parkinsonism With Polyneuropathy	Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Di...	OMIM:619279
Neuropathy, Congenital Hypomyelinating, 3	High palate, Gastroesophageal reflux, Cachexia	OMIM:618186
Omenn Syndrome	Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ...	OMIM:603554
Caribbean Parkinsonism	Apraxia, Progressive gait ataxia, Midline brain calcifications, Bradykinesia, Weakness due to upp...	ORPHA:97355
Isolated Agammaglobulinemia	Skin rash, Pneumonia, Diarrhea, Inflammatory abnormality of the eye, Failure to thrive, Sinusitis...	ORPHA:229717
Cryptosporidiosis	Gastrointestinal obstruction, Abdominal pain, Dysphagia, Abdominal colic, Nausea, Abnormal esopha...	ORPHA:1549
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Pneumonia, Diarrhea, Eczema, Otitis media	OMIM:608971
Combined Oxidative Phosphorylation Deficiency 15	Tremor, Incoordination, Abnormal cerebral white matter morphology, Abnormal pyramidal sign, Ataxi...	OMIM:614947
Sweet Syndrome	Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Panniculitis, Abn...	ORPHA:3243
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level	OMIM:616873
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Nasogastric tube feeding, Chronic oral candidiasis, Decreased circulating total IgM, Decreased sp...	ORPHA:221139
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Immunodeficiency 49	Lymphopenia, Spastic tetraplegia, Eosinophilia	OMIM:617237
Infection-Related Hemolytic Uremic Syndrome	Acute colitis, Intestinal perforation, Intussusception, Gastrointestinal infarctions, Abdominal c...	ORPHA:544482
Sapho Syndrome	Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,...	ORPHA:793
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Cerebral atrophy, Ataxia	OMIM:618637
Cinca Syndrome	Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia	OMIM:607115
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Increased circulating IgM level, Recurrent gastroenteritis, Conjunctivitis, Decreas...	ORPHA:505248
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Gait ataxia, Truncal ataxia, Chorea, Abnormal cerebral white matter morphology, Myoclonus	OMIM:618587
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure

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