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Gene: Pglyrp1 MGI:1345092

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

peptidoglycan recognition protein 1

Synonyms:

Tag7, peptidoglycan recognition protein, PGRP-S, Tnfsf3l, Tasg7

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 Pglyrp1 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 Pglyrp1 (0 diseases)
Human diseases predicted to be associated with Pglyrp1 (746 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pglyrp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet...	ORPHA:2198
Tuftsin Deficiency	Abnormality of the spleen, Recurrent infections	OMIM:191150
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Glycoprotein Storage Disease	Gout	OMIM:232900
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection...	OMIM:202700
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe...	OMIM:608106
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Immunodeficiency 51	Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca...	OMIM:613953
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility	OMIM:262800
Immunodeficiency 67	Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Familial Hypofibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:98881
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease	OMIM:613148
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,...	OMIM:608184
Whim Syndrome 1	Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac...	OMIM:193670
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Immunodeficiency, Common Variable, 11	Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large in...	OMIM:615767
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive, Malabsorption	ORPHA:79301
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno...	ORPHA:2494
Griscelli Syndrome, Type 2	Hemophagocytosis, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hepatosplenom...	OMIM:607624
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom...	ORPHA:251992
Idiopathic Achalasia	Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia	ORPHA:930
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac...	ORPHA:169079
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula...	ORPHA:2688
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut...	OMIM:607594
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, BCG...	OMIM:226990
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar...	ORPHA:26790
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi...	ORPHA:85446
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis	OMIM:617006
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233710
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Anorexia, Weight loss	ORPHA:52416
Immunodeficiency 37	Colitis, Infectious encephalitis, Decreased circulating antibody level	OMIM:616098
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ...	OMIM:618969
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas...	OMIM:613662
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu...	OMIM:240500
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ulcerative colit...	OMIM:617638
Congenital Disorder Of Glycosylation, Type Iic	Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility	OMIM:266265
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:233690
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity	ORPHA:88643
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ...	ORPHA:131
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure...	ORPHA:388
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:231200
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin...	ORPHA:873
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti...	OMIM:620045
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio...	ORPHA:209964
Mpi-Cdg	Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,...	ORPHA:79319
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Lymphoproliferative Syndrome, X-Linked, 2	Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased circulating antibody leve...	OMIM:300635
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Immunodeficiency 57 With Autoinflammation	Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ...	OMIM:618108
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Reticular Dysgenesis	Skin rash, Malabsorption, Diarrhea, Weight loss, Decreased circulating antibody level, Chronic ot...	ORPHA:33355
Burkitt Lymphoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent abscess formation, Impaired neutrophil chemotaxis	OMIM:260570
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Isolated Congenital Hypoglossia/Aglossia	Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ...	ORPHA:141152
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infection...	ORPHA:572
Congenital Factor Xi Deficiency	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of the large...	OMIM:619281
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati...	OMIM:243700
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ...	OMIM:615214
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged...	ORPHA:849
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Abn...	ORPHA:276
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions	OMIM:602248
Hemophilia B	Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee...	OMIM:306900
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Congenital Enterocyte Heparan Sulfate Deficiency	Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Osteochondrosis Of The Tarsal Bone	Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ...	ORPHA:44890
Immunodeficiency 21	Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu...	OMIM:614172
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Hepatic failu...	ORPHA:331
Linear Iga Dermatosis	Inflammation of the large intestine, Epistaxis	ORPHA:46488
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch...	OMIM:613496
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy	OMIM:277175
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ...	OMIM:616005
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infections, Inc...	ORPHA:98813
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi...	ORPHA:2619
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar...	ORPHA:2070
Immunodeficiency 60 And Autoimmunity	Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D...	OMIM:618394
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Pfapa Syndrome	Nausea and vomiting, Abdominal pain, Malabsorption, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Blue Rubber Bleb Nevus	Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Volvulus	ORPHA:1059
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p...	ORPHA:343
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Trichohepatoenteric Syndrome 2	Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ...	OMIM:614602
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Hypertensive crisis, Pneumonia, Nausea, Abdomi...	ORPHA:544482
Immunodeficiency 76	Chronic diarrhea, Colitis, Recurrent pneumonia	OMIM:619164
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Skin rash, Anterior uveitis, Colitis, Ileal ulcer	OMIM:616744
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra...	ORPHA:411696
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf...	OMIM:614493
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,...	ORPHA:853
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,...	ORPHA:679
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secreto...	OMIM:616050
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Moderate Hemophilia A	Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa...	ORPHA:2137
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop...	OMIM:618986
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P...	ORPHA:85450
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In...	ORPHA:424019
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Recurrent S...	OMIM:306400
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia	OMIM:617341
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ...	ORPHA:83471
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Typhoid	Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons...	ORPHA:99745
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea...	ORPHA:263665
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Portal hypertensio...	ORPHA:98850
Laryngeal Neuroendocrine Tumor	Weight loss, Adrenocorticotropic hormone excess, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Dengue Fever	Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo...	ORPHA:99828
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis, Decreased circulating antibody level	OMIM:615190
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan...	ORPHA:144
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Recurrent pneumonia, Recurrent tonsill...	OMIM:618935
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor...	ORPHA:319218
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ...	OMIM:301074
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Recurrent sinusitis, Decreased circulating antibody level	OMIM:613101
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High, narrow palate, Re...	ORPHA:79076
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me...	ORPHA:99147
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec...	OMIM:614878
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Recurrent viral i...	ORPHA:911
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni...	OMIM:142680
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss	ORPHA:168811
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi...	ORPHA:440437
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora...	ORPHA:464321
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Increased circulating interleukin 8 concentration, Chronic diarrhea...	OMIM:301220
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Cachexia, Malabsorpti...	ORPHA:3452
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ...	ORPHA:913
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Sinusitis, Episcleritis, Epistaxi...	ORPHA:727
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio...	ORPHA:436159
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu...	OMIM:147060
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr...	ORPHA:486
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Petechiae, Maculopapular exanthema, Skin rash,...	ORPHA:540
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum...	OMIM:614700
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Ppoma	Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Intestinal ...	ORPHA:97278
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Impaired T cell function, Pure r...	OMIM:613179
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac...	OMIM:617475
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Purpura, Pericarditis, Me...	ORPHA:91139
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema...	OMIM:174900
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro...	ORPHA:331235
Esophagitis, Eosinophilic, 1	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:610247
Esophagitis, Eosinophilic, 2	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:613412
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi...	ORPHA:774
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy...	ORPHA:85443
Immunodeficiency 58	Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ...	OMIM:618131
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni...	ORPHA:47
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,...	OMIM:175500
Gastrocutaneous Syndrome	Peptic ulcer, Hiatus hernia	OMIM:137270
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgA level, Decreased p...	OMIM:618048
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility	ORPHA:230839
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Congestive heart failure, Gastrointestinal dysmotility, D...	ORPHA:67
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,...	ORPHA:298
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of...	OMIM:203300
Immunodeficiency 10	Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections	OMIM:612783
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Gastrointest...	ORPHA:91138
Grfoma	Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis...	ORPHA:97261
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:187900
Cronkhite-Canada Syndrome	Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu...	ORPHA:2930
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Acholic st...	ORPHA:1414
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma...	ORPHA:37042
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity	OMIM:130020
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ...	ORPHA:64743
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy...	ORPHA:85435
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100082
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Hepatosplenomegaly, Recurrent b...	OMIM:612840
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Vasculitis, Weight loss, ...	ORPHA:324964
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can...	OMIM:616433
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor...	OMIM:606367
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Purpura, Epistaxis, Anorexia, Malabsorption, Congestive heart failur...	ORPHA:33226
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Recurrent viral infections, Recurrent mycobacterial infections, Splenomegaly, S...	ORPHA:169090
Somatostatinoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin...	ORPHA:97283
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep...	ORPHA:65682
Immunodeficiency 12	Abnormal lymphocyte count, Recurrent viral infections, Recurrent bacterial infections, Absent iso...	OMIM:615468
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Shigellosis	Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, V...	ORPHA:810
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Hereditary Mixed Polyposis Syndrome	Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D...	ORPHA:157794
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Wolman Disease	Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,...	ORPHA:75233
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Nausea and vomiting, Cachexia, Testicular neoplasm, Abdominal pain, Abd...	ORPHA:83469
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ...	ORPHA:329971
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Leukocytosis, ...	OMIM:116920
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur...	ORPHA:90308
Glucagonoma	Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Nausea and ...	ORPHA:97280
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Recurrent respiratory infecti...	ORPHA:167
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma...	ORPHA:537
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,...	OMIM:618999
Blue Rubber Bleb Nevus	Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception	OMIM:112200
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100080
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myositis, Gastritis, Skin ras...	ORPHA:809
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypotension, Eryth...	ORPHA:79456
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote...	OMIM:603585
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Sepsis In Premature Infants	Abnormal bleeding, Increased circulating interleukin 6 concentration, Tachycardia, Small for gest...	ORPHA:90051
Tuberculosis	Weight loss	ORPHA:3389
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Liver abs...	ORPHA:183675
Indolent Systemic Mastocytosis	Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology	ORPHA:98848
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi...	ORPHA:449400
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Decreased circulating...	OMIM:619802
Laryngotracheoesophageal Cleft Type 4	Tracheoesophageal fistula, Cachexia, Intestinal atresia	ORPHA:93941
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni...	OMIM:603554
Pgm3-Cdg	Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Increased circulating IgA level, Vasculitis, Increased circulating I...	OMIM:603909
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Vasculitis, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Subconjunctival hemorr...	OMIM:617718
Pleural Mesothelioma	Weight loss, Abnormal cardiovascular system physiology, Dysphagia	ORPHA:50251
Behçet Disease	Myositis, Myocardial infarction, Anorexia, Pulmonary embolism, Infectious encephalitis, Acne, Abd...	ORPHA:117
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ...	OMIM:102700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive	OMIM:612075
Rhabdoid Tumor	Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver, Hypertens...	ORPHA:69077
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, S...	ORPHA:36426
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Tricuspid regurgitation, Anorexia, Poor appetite, Hematemesis, Bowel urgency...	ORPHA:100075
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux...	ORPHA:183
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo...	ORPHA:2796
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Pyloric ste...	ORPHA:363705
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Malabsorption, Abdominal pai...	ORPHA:79430
Refractory Celiac Disease	Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia...	ORPHA:398063
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail...	ORPHA:100078
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Petechiae	OMIM:620133
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain...	OMIM:619381
Granulomatosis With Polyangiitis	Sinusitis, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Prostatitis, Nausea an...	ORPHA:900
Takayasu Arteritis	Increased inflammatory response, Anorexia, Myocardial infarction, Vasculitis, Weight loss, Hypert...	ORPHA:3287
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno...	ORPHA:85410
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl...	OMIM:106300
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Increased hepatitis B virus antibody level, Abdominal distention, Weight loss, Ne...	ORPHA:90003
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorptio...	OMIM:214950
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr...	OMIM:192315
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Syno...	ORPHA:77297
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Abscess, Recurrent staphylococcal infections,...	OMIM:615816
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Pulmonary arterial hypertensi...	ORPHA:974
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling	ORPHA:1525
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h...	OMIM:177850
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ...	ORPHA:793
Gastrocutaneous Syndrome	Peptic ulcer, Hiatus hernia	ORPHA:2069
Attrv30M Amyloidosis	Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhythmia	ORPHA:85447
Familial Pancreatic Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti...	ORPHA:1333
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Abdominal pain, Raynaud phenomenon, Weig...	ORPHA:767
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula...	ORPHA:555905
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ...	ORPHA:90363
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Wild Type Attr Amyloidosis	Abnormal EKG, Bowel incontinence, Myocardial infarction, Congestive heart failure, Gastrointestin...	ORPHA:330001
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab...	ORPHA:90362
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Chronic Hiccup	Malnutrition, Weight loss	ORPHA:396
Yao Syndrome	Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Diarrhea, Xerostom...	OMIM:617321
Vertical Talus, Congenital	Arthritis	OMIM:192950
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast...	ORPHA:3463
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Weight loss, Ovarian neoplasm, Macroglossia, Glossitis	ORPHA:2221
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Chronic diarrhea, Decreased specific anti-polysaccharide antibody level, Esoph...	OMIM:614576
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,...	ORPHA:309031
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti...	ORPHA:2686
Acrodermatitis Enteropathica	Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We...	ORPHA:37
Galactose Epimerase Deficiency	Nausea and vomiting, Feeding difficulties, Weight loss	ORPHA:79238
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Weight loss, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Dia...	ORPHA:90038
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A...	ORPHA:758
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Cocaine Intoxication	Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe...	ORPHA:90068
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Decreased circulating antibody level, Weight lo...	ORPHA:99867
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh...	OMIM:175200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Keratitis, Weight loss, Abn...	ORPHA:1018
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Anorexia, Abdominal pa...	ORPHA:761
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Paralytic ileus, Melena, Pro...	OMIM:276700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa...	OMIM:618213
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Sudden cardiac death, Reduced left ventricular ejection fraction, Gast...	OMIM:201475
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-...	OMIM:608233
Hyperlipoproteinemia, Type Id	Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh...	ORPHA:394
Celiac Disease, Susceptibility To, 1	Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss,...	OMIM:212750
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Polycythemi...	ORPHA:2968
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum...	ORPHA:424016
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Weight loss, Increased circulatin...	OMIM:209950
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Abdominal pain, Congestive heart failure, Lymphadenitis, Chronic diarrhea, Dilated cardio...	OMIM:615895
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Diarrhea...	ORPHA:391487
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation, Menorrhagia	ORPHA:168816
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Dysphagia, Nodular goiter	ORPHA:1332
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l...	ORPHA:247691
Wiskott-Aldrich Syndrome	Large vessel vasculitis, Inflammation of the large intestine, Prolonged bleeding time, Chronic di...	OMIM:301000
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive	ORPHA:178029
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss	ORPHA:33276
Rheumatoid Arthritis	Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join...	OMIM:180300
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se...	OMIM:619377
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Weight loss...	ORPHA:29207
Nephroblastoma	Neoplasm of the liver, Abdominal pain, Hypertension, Weight loss	ORPHA:654
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Hypoplasia of the thymus...	ORPHA:906
Bile Acid Synthesis Defect, Congenital, 3	Diarrhea, Hepatic failure, Hepatitis, Hematochezia, Acholic stools, Prolonged prothrombin time, B...	OMIM:613812
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Subcorneal Pustular Dermatosis	Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:48377
Christianson Syndrome	Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti...	ORPHA:3260
Systemic Sclerosis	Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha...	ORPHA:90291
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Increased...	ORPHA:160
X-Linked Creatine Transporter Deficiency	Constipation, Ileus, Aganglionic megacolon, Cachexia	ORPHA:52503
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ...	ORPHA:542323
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Immunodeficiency 31C	Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias...	OMIM:614162
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Primary hyperparathyroidism, Peptic ulcer	OMIM:145981
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Intermitte...	OMIM:612541
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth...	ORPHA:85414
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Jaw claudication, Weight loss, Feeding diff...	ORPHA:221098
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:86893
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infections, Recurrent...	ORPHA:221139
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Riboflavin Transporter Deficiency	Hypertension, Cachexia, Dysphagia	ORPHA:97229
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Epistaxis, Gout, Thyroiditis, Diarrhea, Prolonged bleeding following procedure...	ORPHA:79259
Syndromic Diarrhea	Aortic regurgitation, Villous atrophy, Gastritis, Small for gestational age, Bloody diarrhea, Col...	ORPHA:84064
Non-Functioning Paraganglioma	Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Weight...	ORPHA:94080
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Increased circulating IgE level, Atopic dermatitis, We...	ORPHA:2902
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der...	ORPHA:171876
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Abnormal blee...	ORPHA:3261
Acute Myelomonocytic Leukemia	Abnormal bleeding, Weight loss	ORPHA:517
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo...	ORPHA:51636
Vipoma	Neoplasm of the pancreas, Nausea and vomiting, Elevated circulating growth hormone concentration,...	ORPHA:97282
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Uveitis, Neoplasm of the gallbladder, Adenocarcinoma of...	ORPHA:171
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia, Cachexia, Feeding difficulties	ORPHA:157973
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Celia...	ORPHA:199299
Fatal Familial Insomnia	Weight loss, Constipation, Dysphagia	OMIM:600072
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Erythrokeratodermia Variabilis	Abnormal testis morphology, Skin rash, Weight loss	ORPHA:317
Parathyroid Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT i...	ORPHA:143
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Syncope, Hypotension, Nausea	ORPHA:98849
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult...	ORPHA:565
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Dysphagia	ORPHA:216866
Mu-Heavy Chain Disease	Increased circulating antibody level, Weight loss	ORPHA:100024
Renpenning Syndrome	Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia	ORPHA:3242
Isaacs Syndrome	Weight loss	ORPHA:84142
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Recurrent bacterial infections,...	OMIM:603903
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Intracrani...	ORPHA:340
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t...	ORPHA:562639
22Q11.2 Deletion Syndrome	Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal reflux, Hypoplasia of the th...	ORPHA:567
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El...	ORPHA:652
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Acute Promyelocytic Leukemia	Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Diffuse alveolar hemorrhage, Weight loss,...	ORPHA:520
Huntington Disease	Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia	ORPHA:399
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul...	OMIM:619708
Plague	Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf...	ORPHA:707
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp...	ORPHA:731
Hypercalcemia, Infantile, 1	Failure to thrive, Vomiting, Weight loss	OMIM:143880
Reynolds Syndrome	Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Lip telangiectasia, Palmar tel...	OMIM:613471
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Bronchiectasis, Weight loss	ORPHA:1164
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ...	ORPHA:70591
Immunodeficiency 92	Osteomyelitis, Cholangitis, Pneumonia, Chronic diarrhea, Sclerosing cholangitis, Esophagitis, Par...	OMIM:619652
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive in infancy, Poor appetite, Diar...	ORPHA:247598
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Splenomegaly, Decreased cir...	OMIM:300972
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Anal atresia	ORPHA:884
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Increased circulating IgG leve...	ORPHA:99827
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Diarrhea, Lympha...	ORPHA:31205
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Tachycardia, Angular cheilitis, Poor appetite, Weight loss, Constipation, Vomi...	ORPHA:35858
Parenteral Nutrition-Associated Cholestasis	Villous atrophy, Small for gestational age, Portal hypertension, Abdominal pain, Biliary hyperpla...	ORPHA:567983
Postinfectious Vasculitis	Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal infection, Bacterial endocardit...	ORPHA:48435
Mirage Syndrome	Recurrent urinary tract infections, Thrombocytopenia, Sepsis, Recurrent bacterial infections, Leu...	OMIM:617053
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Lymphopenia, Recurrent viral i...	OMIM:242840
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Pneumonia, Anorexia, Poor appetite, Elevated circulating growth hormone ...	ORPHA:97287
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ...	ORPHA:2552
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Vasculitis, Hepatiti...	OMIM:615846
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti...	ORPHA:275761
Leishmaniasis	Abnormal bleeding, Anorexia, Weight loss, Rhinitis, Increased circulating antibody level	ORPHA:507
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Diarrhea, Weight loss, Hypertrophic cardiomyopathy, Failure to thrive	ORPHA:1842
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Mulibrey Nanism	Cachexia	ORPHA:2576
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa...	ORPHA:35710
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Peptic ulcer, Pituitary null cell adenoma, Pituitary corticotropic cell aden...	ORPHA:276152
Caroli Disease	Cholangiocarcinoma, Cholangitis, Anorexia, Portal hypertension, Abdominal pain, Esophageal varix,...	ORPHA:53035
Gaisböck Syndrome	Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Hypovolemia, Obesity, Gout, Ele...	ORPHA:90041
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Weight loss, E...	ORPHA:100085
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Cachexia, High palate, Narrow palate	OMIM:618186
Rett Syndrome	Cachexia, Constipation, Gastroesophageal reflux, Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Rift Valley Fever	Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Retinal hemorrhage, Uveitis, Hepatitis, Mele...	ORPHA:319251
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Poor appetite, Weight loss	ORPHA:312
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Portal hypertension, Abdominal pain, Congestive heart failure, Weight loss, C...	ORPHA:465508
Huntington Disease-Like 2	Weight loss	OMIM:606438
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Prolonged bleeding time, Weight loss, Intracranial hemorrhage, Chronic otiti...	ORPHA:3226
Klatskin Tumor	Cholangiocarcinoma, Abdominal pain, Weight loss	ORPHA:99978
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea	OMIM:229600
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Abdominal distention, Weight loss, Episodic abdominal pain, Cho...	ORPHA:100086
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Feeding difficulties in infan...	ORPHA:3208
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Brucellosis	Anorexia, Knee osteoarthritis, Increased circulating IgG level, Vomiting, Infectious encephalitis...	ORPHA:1304
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Dilate...	OMIM:619573
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Primary hyperparathyroidism, Peptic ulcer	OMIM:600740
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT i...	ORPHA:99880
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Anorexia, Abdominal pain, Vasculitis, Weight loss,...	ORPHA:397
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Hypotension, Arrhythmia, Pancre...	ORPHA:188
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis	OMIM:217090
Graves Disease, Susceptibility To, 1	Congestive heart failure, Weight loss, Goiter	OMIM:275000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Weight loss, Palpitations, Goiter	OMIM:188580
Sarcoidosis, Susceptibility To, 1	Anorexia, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Weight loss, Arthriti...	OMIM:181000
Moynahan Syndrome	Cachexia	ORPHA:2574
Acute Liver Failure	Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Hepatitis, Intracrani...	ORPHA:90062
Glycogen Storage Disease Ib	Pancreatic fibrosis, Gout, Hypertension, Inflammation of the large intestine, Protuberant abdomen...	OMIM:232220
Diarrhea 10, Protein-Losing Enteropathy Type	Cryptorchidism, Secretory diarrhea, Decreased circulating antibody level, Hematochezia, Feeding d...	OMIM:618183
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh...	ORPHA:100026
Familial Glucocorticoid Deficiency	Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight loss, Episodic abdomina...	ORPHA:361
Tropical Pancreatitis	Pancreatic adenocarcinoma, Nausea, Malnutrition, Weight loss, Chronic calcifying pancreatitis, Vo...	ORPHA:103918
Classic Hodgkin Lymphoma	Poor appetite, Skin rash, Anorexia, Weight loss	ORPHA:391
Liposarcoma	Nausea and vomiting, Abdominal pain, Weight loss	ORPHA:69078
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, ...	ORPHA:276621
Wilson Disease	Acute hepatic failure, Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis,...	ORPHA:905
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties	OMIM:616801
Gm1 Gangliosidosis	Congestive heart failure, Weight loss, Feeding difficulties, Macroglossia, Cardiomyopathy, Gastro...	ORPHA:354
Caroli Syndrome	Abnormal bleeding, Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hemateme...	ORPHA:480520
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Pituitary adenoma, Adenomatous colonic polyposis, Diarrhea,...	ORPHA:99818
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Pancreatic cysts, Esophageal varix, Hypertension	OMIM:263200
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Yellow Fever	Abnormal bleeding, Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, ...	ORPHA:99829
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru...	OMIM:225400
Congenital Dyserythropoietic Anemia Type Iii	Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding	ORPHA:98870
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Perioral eczema	ORPHA:79242
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Angina pectoris, Cachexia, Abnormal large intestine morphology, Narrow pala...	ORPHA:109
Fumarase Deficiency	Necrotizing enterocolitis, High palate, Hepatic failure, Failure to thrive, Mitochondrial swelling	OMIM:606812
Hypocomplementemic Urticarial Vasculitis	Splenomegaly, Recurrent bacterial infections, Meningitis	ORPHA:36412
Wolfram Syndrome 2	Abnormal bleeding, Gastric ulcer, Decreased circulating antibody level	OMIM:604928
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Bronchiectasis, Weight loss	ORPHA:411703
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, W...	ORPHA:139402
Glycogen Storage Disease Ic	Stomatitis, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of the larg...	OMIM:232240
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased circulating antib...	OMIM:248500
Solitary Fibrous Tumor	Neoplasm of the liver, Constipation, Weight loss	ORPHA:2126
Eosinophilic Fasciitis	Myositis, Fasciitis, Arthritis, Weight loss	ORPHA:3165
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abdominal pain, Diarrhea, Abnormal testis morphology, Weight loss	ORPHA:54251
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficulties, Constipati...	ORPHA:813
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala...	ORPHA:261584
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Diarrhea, Vomiting, Decreased liver function, Arrhythmia	ORPHA:42
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Re...	ORPHA:420741
Follicular Lymphoma	Weight loss	ORPHA:545
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, Hematemesis, Abdo...	OMIM:301068
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Weight loss, Arthritis, Rh...	ORPHA:47612
Myasthenia Gravis	Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a...	ORPHA:589
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Weight loss, Goiter	OMIM:613239
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting, Pancreatic calcification	ORPHA:677
Pemphigus Vulgaris	Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Infantile Krabbe Disease	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Abnormal heart rate variabil...	ORPHA:206436
Addison Disease	Hypoparathyroidism, Nausea and vomiting, Orthostatic hypotension, Primary testicular failure, Ano...	ORPHA:85138
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Cholelithiasis, Giant cell hepatitis	ORPHA:79095
Pneumocystosis	Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody...	ORPHA:723
Neuroblastoma, Susceptibility To, 1	Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive	OMIM:256700
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter	ORPHA:424
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Polysplenia, Re...	ORPHA:244
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit...	OMIM:617137
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp...	OMIM:175050
Overlap Myositis	Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste...	ORPHA:206572
Monosomy 13Q34	Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis	ORPHA:96168
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abdominal pain	ORPHA:538
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Abnormality of body weight, Pneumonia, Increased circulating IgA lev...	ORPHA:2298
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure...	ORPHA:371364
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Abnormal bleeding, Nausea and vomiting, Anorexia, Abdominal distention,...	ORPHA:370348
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, ...	ORPHA:29072
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton...	OMIM:158310
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Multiple Myeloma	Increased circulating IgA level, Functional abnormality of the gastrointestinal tract, Decreased ...	ORPHA:29073
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gastroparesis, Intestinal pseudo-obstruction, Dilated cardiomyopathy, Weight loss, Mitral regurgi...	OMIM:607459
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Vasculiti...	ORPHA:781
Menke-Hennekam Syndrome 2	Chronic constipation, Duodenal ulcer	OMIM:618333
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Weight loss, Orthostatic hypotension due to autonomic dysfunction, Dysphagia	ORPHA:411602
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Enlarged...	ORPHA:79078
Chromomycosis	Recurrent bacterial infections	ORPHA:182
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu...	OMIM:608710
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227990
20Q13.33 Microdeletion Syndrome	Hematochezia, Small for gestational age, Failure to thrive in infancy	ORPHA:261311
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A...	ORPHA:49041
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, P...	ORPHA:79128
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Arteriosclerosis, Severe Juvenile	Hypertension, Gastric ulcer, Myocardial infarction	OMIM:208060
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea...	ORPHA:99921
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre...	ORPHA:252183
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ectopic posterior pituitary, Small for gestational age, Feeding diff...	ORPHA:508488
Primary Myelofibrosis	Abnormal bleeding, Portal hypertension, Cachexia, Anorexia, Ecchymosis, Petechiae, Purpura	ORPHA:824
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Weight loss	ORPHA:133
Juvenile Amyotrophic Lateral Sclerosis	Gastrostomy tube feeding in infancy, Cachexia, Dysphagia	ORPHA:300605
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant...	ORPHA:1855
8P23.1 Microdeletion Syndrome	Cryptorchidism, Obesity, Weight loss, High palate, Hypertrophic cardiomyopathy	ORPHA:251071
Familial Hypocalciuric Hypercalcemia	Nausea and vomiting, Pancreatitis, Peptic ulcer, Episodic abdominal pain	ORPHA:405
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227982
Pelizaeus-Merzbacher Disease	Cachexia, Failure to thrive in infancy, Bowel incontinence	ORPHA:702
Alveolar Echinococcosis	Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Weight loss, Increased circul...	ORPHA:284
Familial Gestational Hyperthyroidism	Goiter, Diarrhea, Weight loss, Thyroid hyperplasia	ORPHA:99819
Cystic Echinococcosis	Abdominal symptom, Abnormality of the testis size, Weight loss, Ovarian cyst, Membranous nephropa...	ORPHA:400
19Q13.11 Microdeletion Syndrome	Cachexia, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Failure to thrive	ORPHA:217346
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Intestinal bleeding, Gastrointestinal telangiectasia, Oral leukoplakia, Retinal telangiectasia	OMIM:612199
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Abnormality of the ovary, Periodontitis	ORPHA:722
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l...	OMIM:607944
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparat...	ORPHA:97289
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Aicardi-Goutieres Syndrome 9	Pericarditis, Acute pancreatitis, Chilblains, Portal hypertension, Weight loss, Feeding difficult...	OMIM:619487
Infantile Systemic Hyalinosis	Recurrent bacterial infections	ORPHA:2176
Beta-Ketothiolase Deficiency	Anorexia, Diarrhea, Weight loss, Hypertension, Vomiting, Hypotension	ORPHA:134
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Sial...	ORPHA:449395
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated card...	ORPHA:20
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss	ORPHA:1302
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Thymic Carcinoma	Weight loss	ORPHA:99868
Acute Adrenal Insufficiency	Nausea and vomiting, Orthostatic hypotension, Myocardial infarction, Anorexia, Abdominal pain, Di...	ORPHA:95409
Adrenocortical Carcinoma	Abdominal pain, Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Hyper...	ORPHA:1501
Osteosarcoma	Weight loss	ORPHA:668
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurr...	OMIM:619575
Macrophage Activation Syndrome	Increased inflammatory response, Autoimmunity, Hepatitis, Systemic lupus erythematosus, Juvenile ...	ORPHA:158061
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Weight loss, High palate, Dysphagia, Hype...	OMIM:164310
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Weight loss, Testicular te...	ORPHA:764
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Gastrointestinal stroma tumor, F...	ORPHA:221
Diffuse Alveolar Hemorrhage	Pulmonary venous hypertension, Weight loss	ORPHA:90060
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Abdominal pain, Weight loss, Syncope, Nausea	ORPHA:71273
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Nijmegen Breakage Syndrome	Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Recurrent pneumonia, Cleft palate, ...	ORPHA:647
Acute Monoblastic/Monocytic Leukemia	Anorexia, Weight loss	ORPHA:514
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis...	ORPHA:99413
Turner Syndrome	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis...	ORPHA:881
Mosaic Monosomy X	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis...	ORPHA:99228
Monosomy X	Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis...	ORPHA:99226
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Recurrent Burkholderia cepaci...	ORPHA:586
Spondyloocular Syndrome	Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight	OMIM:605822
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss	ORPHA:86884
Familial Thrombocytosis	Abnormal bleeding, Transient ischemic attack, Weight loss, Syncope, Cerebral ischemia, Pulmonary ...	ORPHA:71493
X-Linked Intellectual Disability, Cabezas Type	High palate, Decreased testicular size, Cachexia, Obesity	ORPHA:85293
Congenital Fiber-Type Disproportion Myopathy	Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat...	ORPHA:2020
Trisomy 18	Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Anal atresia	ORPHA:3380
Fanconi Anemia	Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Tracheoesophageal fistula...	ORPHA:84
Williams Syndrome	Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Sudden car...	ORPHA:904
Lysinuric Protein Intolerance	Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Recurrent bacterial i...	ORPHA:470
Poems Syndrome	Pulmonary arterial hypertension, Increased circulating antibody level, Increased circulating prol...	ORPHA:2905
Short Syndrome	Poor appetite, Weight loss	ORPHA:3163
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Malt Lymphoma	Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Posterior uveitis	ORPHA:52417
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi...	ORPHA:31204
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Gastric ulcer, Gastric hypertrophy	OMIM:161700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Cachexia, Esophageal varix, Feeding difficulties, Azoospermia, ...	ORPHA:2072
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Tsh-Secreting Pituitary Adenoma	Nausea and vomiting, Enlarged pituitary gland, Ventricular arrhythmia, Elevated circulating growt...	ORPHA:91347
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti...	ORPHA:79102
Hennekam-Beemer Syndrome	Mastocytosis	ORPHA:2135
Perry Syndrome	Weight loss	OMIM:168605
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Skin rash, Anorexia, Pustule, Myocarditis, Vasculitis,...	ORPHA:50918
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Anorexia	ORPHA:1969
Aredyld Syndrome	Cachexia	ORPHA:1133
Mucolipidosis Type Ii	Aortic regurgitation, Abnormal atrioventricular valve physiology, Weight loss, Cardiomyopathy, Mi...	ORPHA:576
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant...	ORPHA:3132
Sarcoidosis	Abnormality of the gastrointestinal tract, Abnormal cardiac ventricular function, Maculopapular e...	ORPHA:797
Erdheim-Chester Disease	Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Congestive heart failure, Weight loss	ORPHA:35687
Mowat-Wilson Syndrome	Dependency on intravenous nutrition, Aganglionic megacolon, Bowel incontinence, Cleft hard palate...	ORPHA:2152
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My...	ORPHA:740
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pain, Intermediate uve...	ORPHA:91500
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Rheumatoid arthritis	ORPHA:98808
Schwartz-Jampel Syndrome	Cachexia, Feeding difficulties in infancy, Cleft palate, Pulmonary arterial hypertension, High pa...	ORPHA:800
Stickler Syndrome	Slender build, Cachexia, Feeding difficulties in infancy, Osteoarthritis, Cleft palate, Uveitis, ...	ORPHA:828
Cystinosis, Nephropathic	Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Exocrine pancrea...	OMIM:219800
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Pancreatic hypoplasia, Hypovolemia, Weight loss	ORPHA:99885
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Xfe Progeroid Syndrome	Hypertension, Failure to thrive, Cachexia	OMIM:610965
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
African Trypanosomiasis	Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Diarrhea, Congestive heart failure, Weight lo...	ORPHA:3385
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Acne, Hypovolemia, Testicular adrenal rest tumor, Weight loss, Feeding difficulties, Vomit...	ORPHA:90794
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Weight loss	OMIM:613673
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Increased pulmonary vascular resistance, Bronchiectasis, Weight loss, ...	ORPHA:60025
Coffin-Siris Syndrome 1	Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchidism, Cleft pa...	OMIM:135900
Cockayne Syndrome	Cachexia, Feeding difficulties in infancy, Cryptorchidism, Retinal hemorrhage, Hypertension, Kera...	ORPHA:191
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections	ORPHA:2273
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Marfan Syndrome	Arthralgia/arthritis, Cachexia, High, narrow palate, Congestive heart failure, Cleft palate, Slen...	ORPHA:558
Choreoacanthocytosis	Protruding tongue, Dilated cardiomyopathy, Weight loss, Arthritis, Dysphagia	ORPHA:2388
Seckel Syndrome	Cachexia	ORPHA:808
Camurati-Engelmann Disease	Cachexia, Anorexia, Feeding difficulties in infancy, Hypertrophic cardiomyopathy, Slender build	ORPHA:1328
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections, Tooth abscess, Abscess, Anemia	ORPHA:642
Goodpasture Syndrome	Glomerulonephritis, Pulmonary hemorrhage, Weight loss	OMIM:233450
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Sudden cardiac de...	ORPHA:744
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Norrie Disease	Cryptorchidism, Failure to thrive, Cachexia	ORPHA:649
Pmm2-Cdg	Impaired neutrophil chemotaxis	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pglyrp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pglyrp1.

No publications found that use IMPC mice or data for Pglyrp1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Pglyrp1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pglyrp1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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