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Gene: Pglyrp4 MGI:2686324

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Gene Summary

Name:
peptidoglycan recognition protein 4
Synonyms:
LOC242097,  LOC384997

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lymph node morphology Pglyrp4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Pglyrp4em1(IMPC)Ccpcz HOM   Early adult 2.29×10-08
abnormal heart morphology Pglyrp4em1(IMPC)Ccpcz HOM Early adult 0.00
small thymus Pglyrp4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Pglyrp4em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Pglyrp4em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Pglyrp4em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Pglyrp4em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Pglyrp4em1(IMPC)Ccpcz HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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Human diseases caused by Pglyrp4 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.

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

The table below shows human diseases predicted to be associated to Pglyrp4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99977
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
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
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
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
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
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
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
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
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Ethanolaminosis
Cardiomegaly OMIM:227150
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage OMIM:106070
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
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
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99976
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
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
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
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
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ulcerative colit... OMIM:617638
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
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
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
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
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:231200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
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
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
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
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ... ORPHA:141152
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of the large... OMIM:619281
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
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
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
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Abnormal metaphysis morphology, Hepatomegaly ORPHA:417
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
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 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Clubbing of fingers,... OMIM:618982
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
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
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
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
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
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
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
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
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
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
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
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
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
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
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
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia OMIM:617341
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Typhoid
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... ORPHA:99745
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
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Eosinoph... OMIM:616651
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
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
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Eczema, Abnormal immunoglobulin level, Feeding difficulties in i... ORPHA:98813
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis, Decreased circulating antibody level OMIM:615190
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... ORPHA:144
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
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia ORPHA:858
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... OMIM:614878
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Splenomegaly, Abnormal limb bone morphology, Hepatomegaly ORPHA:2204
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... OMIM:142680
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro... OMIM:610539
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi... ORPHA:440437
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
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
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Cachexia, Malabsorpti... ORPHA:3452
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Foot ... OMIM:616589
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... ORPHA:913
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
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
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites, Metaphyseal irregularity OMIM:269920
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
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
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Brachydactyly, Epiphyseal dysplasia, Eosinophilia,... ORPHA:353298
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow greater sc... OMIM:602271
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
Joubert Syndrome 33
Splenomegaly, Syndactyly OMIM:617767
Galactosemia Iii
Splenomegaly, Jaundice, Hepatomegaly OMIM:230350
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi... ORPHA:774
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... ORPHA:85443
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... ORPHA:47
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
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
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
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... OMIM:620135
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly OMIM:620010
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
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
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short 5th metacarpal ORPHA:66518
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Congestive heart failure, Gastrointestinal dysmotility, D... ORPHA:67
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,... ORPHA:298
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
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
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
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
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... ORPHA:64743
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
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, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Anorexia, Malabsorption, Congestive heart failur... ORPHA:33226
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic bridging fibrosis OMIM:616719
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
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
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... OMIM:603041
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly ORPHA:172
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
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Cardiomyopathy, Hepatomegaly OMIM:608540
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Ul... OMIM:228000
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
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
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Hepatomegaly, Lymphadenopathy ORPHA:56425
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
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular... OMIM:616028
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... ORPHA:537
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
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
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
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
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Hallux valgus, Dislocation of toes, Congenital hip dislocation, Left atr... OMIM:300280
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypotension, Eryth... ORPHA:79456
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
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
Intellectual Developmental Disorder, Autosomal Recessive 41
Prominent fingertip pads, Splenomegaly, Clinodactyly of the 5th finger, Hepatomegaly OMIM:615637
Tuberculosis
Weight loss ORPHA:3389
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
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
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Sandal gap, Anemia ORPHA:1046
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
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Pleural Mesothelioma
Weight loss, Abnormal cardiovascular system physiology, Dysphagia ORPHA:50251
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Behçet Disease
Myositis, Myocardial infarction, Anorexia, Pulmonary embolism, Infectious encephalitis, Acne, Abd... ORPHA:117
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Coproporphyria, Hereditary
Splenomegaly, Jaundice, Hepatomegaly OMIM:121300
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive OMIM:612075
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Rhabdoid Tumor
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver, Hypertens... ORPHA:69077
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
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
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
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
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, As... OMIM:235200
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
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
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Refractory Celiac Disease
Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia... ORPHA:398063
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail... ORPHA:100078
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
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
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Granulomatosis With Polyangiitis
Sinusitis, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Prostatitis, Nausea an... ORPHA:900
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
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
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... OMIM:619313
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly, Femoral bowing, Short long bone, Hypop... OMIM:617022
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cholestasis, C... OMIM:615630
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
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorptio... OMIM:214950
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
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
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
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
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
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Abnormal meta... ORPHA:39041
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Attrv30M Amyloidosis
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhythmia ORPHA:85447
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... ORPHA:1333
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Cholesteryl Ester Storage Disease
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly ORPHA:75234
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
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
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ... ORPHA:90363
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
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
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Opsismodysplasia
Hepatomegaly, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplastic pubic bone, Abnormal... ORPHA:2746
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Yao Syndrome
Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... ORPHA:3463
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Chronic diarrhea, Decreased specific anti-polysaccharide antibody level, Esoph... OMIM:614576
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Weight loss, Ovarian neoplasm, Macroglossia, Glossitis ORPHA:2221
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... ORPHA:309031
Sézary Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Abnormal lymphocyte morpho... ORPHA:3162
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Ab... ORPHA:290
Acrodermatitis Enteropathica
Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... ORPHA:37
Babesiosis
Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Splenomegaly, Jaundice, Leukopenia, ... ORPHA:108
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Weight loss, Dysphagia, Nodular goiter, Goiter ORPHA:142
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Dia... ORPHA:90038
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Cantu Syndrome
Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga... OMIM:239850
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... ORPHA:758
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
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
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... OMIM:175200
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Keratitis, Weight loss, Abn... ORPHA:1018
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Anorexia, Abdominal pa... ORPHA:761
Mevalonic Aciduria
Splenomegaly ORPHA:29
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
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
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Syndactyly, Anemia of inadequate production, Ani... OMIM:224120
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Sudden cardiac death, Reduced left ventricular ejection fraction, Gast... OMIM:201475
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Splenomegaly, Abnormal fibula morphology, Tibial bowing,... ORPHA:3035
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
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... ORPHA:424016
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Congestive heart failure, Lymphadenitis, Chronic diarrhea, Dilated cardio... OMIM:615895
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Clinodactyly, Decreased proportion o... OMIM:618048
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Diarrhea... ORPHA:391487
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation, Menorrhagia ORPHA:168816
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea... OMIM:618652
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
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ... OMIM:602557
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss ORPHA:33276
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis... ORPHA:829
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... OMIM:619377
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Weight loss... ORPHA:29207
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Infantile Liver Failure Syndrome 3
Hepatomegaly, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, S... OMIM:618641
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
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
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Erlenmeye... OMIM:230800
Tularemia
Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Thrombocytopenia, Abnormal n... ORPHA:3392
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con... OMIM:253250
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Cubitus valgus, Hepatosplenomegaly, Lymphadenopathy, Microcytic anemia OMIM:619750
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... ORPHA:464329
Huntington Disease-Like 2
Weight loss ORPHA:98934
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... ORPHA:3260
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Mediastinal lymphadenopathy, Clubbing, Hepatomegaly OMIM:612387
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... ORPHA:90291
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... ORPHA:85451
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N... ORPHA:47612
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Increased... ORPHA:160
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Abnormal metacarpophalangeal joint morphology, Portal hypertens... ORPHA:465508
X-Linked Creatine Transporter Deficiency
Constipation, Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly ORPHA:99931
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ... ORPHA:542323
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse... OMIM:613320
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
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
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly, Talipes equinovarus OMIM:619036
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Jaw claudication, Weight loss, Feeding diff... ORPHA:221098
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Finger swelling, Lymphopenia, Thrombocytopenia OMIM:617591
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Scrub Typhus
Myocarditis, Splenomegaly, Lymphadenopathy ORPHA:83317
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Dilated cardiomyopat... ORPHA:398124
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Proteus-Like Syndrome
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries ORPHA:2969
Riboflavin Transporter Deficiency
Hypertension, Cachexia, Dysphagia ORPHA:97229
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
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
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepa... OMIM:606003
Non-Functioning Paraganglioma
Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Weight... ORPHA:94080
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Increased circulating IgE level, Atopic dermatitis, We... ORPHA:2902
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... OMIM:619644
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:235555
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone... ORPHA:549
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der... ORPHA:171876
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Boutonneuse Fever
Abnormal skin morphology of the palm, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thro... ORPHA:83313
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Abnormal blee... ORPHA:3261
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel... OMIM:212140
Acute Myelomonocytic Leukemia
Abnormal bleeding, Weight loss ORPHA:517
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Cardiomyopathy OMIM:619046
Vipoma
Neoplasm of the pancreas, Nausea and vomiting, Elevated circulating growth hormone concentration,... ORPHA:97282
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morphology, Mitral valve... ORPHA:324410
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormal heart valve morphology, Splenomegaly, Genu valgum, Abnormal metaph... ORPHA:583
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Uveitis, Neoplasm of the gallbladder, Adenocarcinoma of... ORPHA:171
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Fatal Familial Insomnia
Weight loss, Constipation, Dysphagia OMIM:600072
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null cell adenoma... ORPHA:97289
Erythrokeratodermia Variabilis
Abnormal testis morphology, Skin rash, Weight loss ORPHA:317
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute leukemia, Clinod... ORPHA:99812
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopath... ORPHA:36412
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
Dominant Beta-Thalassemia
Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus... ORPHA:231226
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
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Fractured radius, Decreased fibular diameter, Cardiomegal... OMIM:616897
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Portal hypertension, Malformation of the... OMIM:208540
Renpenning Syndrome
Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia ORPHA:3242
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Isaacs Syndrome
Weight loss ORPHA:84142
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
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
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Anemia, Leukopenia... ORPHA:77259
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
Aredyld Syndrome
Splenomegaly, Abnormal pelvic girdle bone morphology, Brachydactyly, Hepatomegaly ORPHA:1133
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame... OMIM:601005
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
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... ORPHA:231214
Reynolds Syndrome
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Lip telangiectasia, Palmar tel... OMIM:613471
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... ORPHA:70591
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly OMIM:614702
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Bronchiectasis, Weight loss ORPHA:1164
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
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia ORPHA:884
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Lethal Acantholytic Erosive Disorder
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5... ORPHA:158687
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Wilson Disease
Hepatomegaly, Abnormality of the hand, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acut... ORPHA:905
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
Mcleod Syndrome
Hepatomegaly, Acanthocytosis, Areflexia of upper limbs, Splenomegaly, Dilated cardiomyopathy, Car... OMIM:300842
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly OMIM:252900
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Tangier Disease
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly OMIM:205400
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Coxa valga, Splenomegaly, Long fingers, Limb undergrowth... OMIM:608149
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Single transverse palmar crease, Hepatomegaly OMIM:618541
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Shoulder dislocation, Atrial septal defect, Patent foramen o... OMIM:245600
Refsum Disease
Short metacarpal, Splenomegaly, Cardiomyopathy, Hammertoe, Abnormal epiphysis morphology ORPHA:773
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
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
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Postinfectious Vasculitis
Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal infection, Bacterial endocardit... ORPHA:48435
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg... ORPHA:1517
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Mogs-Cdg
Hepatomegaly, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, Left vent... ORPHA:79330
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Single transverse palmar crease, Intermittent thrombocytopenia, Se... OMIM:612541
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
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... ORPHA:781
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
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
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Abnormality of the... ORPHA:85408
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Weight loss, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:1842
Papa Syndrome
Lymphadenopathy ORPHA:69126
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c... ORPHA:2463
Mulibrey Nanism
Cachexia ORPHA:2576
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... ORPHA:35710
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
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
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Clubbing of fingers, Lymphadenopathy ORPHA:199241
Gaisböck Syndrome
Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Hypovolemia, Obesity, Gout, Ele... ORPHA:90041
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, T... OMIM:259700
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Weight loss, E... ORPHA:100085
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hepatosp... OMIM:603553
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cachexia, High palate, Narrow palate OMIM:618186
Sandhoff Disease
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... OMIM:304790
Rett Syndrome
Cachexia, Constipation, Gastroesophageal reflux, Abnormal T-wave, Prolonged QTc interval OMIM:312750
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... OMIM:267700
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Mucopolysaccharidosis Type 7
Metatarsus adductus, Splenomegaly, Hepatitis, Epiphyseal stippling, Abnormal hip bone morphology,... ORPHA:584
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Hypoplastic scapulae, Cardiomegaly, Coxa valga, Splenomegaly, Metaphyseal widening,... OMIM:252500
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Sandal gap, Macrodactyly OMIM:612918
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
Huntington Disease-Like 2
Weight loss OMIM:606438
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... OMIM:214500
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea OMIM:229600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Weight loss, Episodic abdominal pain, Cho... ORPHA:100086
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Poems Syndrome
Pericardial effusion, Metaphyseal sclerosis, Lymphadenopathy, Clubbing of fingers, Thrombocytosis... ORPHA:2905
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
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Generalized lymphadenopathy OMIM:620232
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... ORPHA:31150
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
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Abnormality of the hand, Short toe, Abnormality ... ORPHA:333
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Refsum Disease, Classic
Cardiomyopathy, Short fourth metatarsal, Cardiomegaly OMIM:266500
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cardiomega... OMIM:618143
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Ascites, Thrombocytopenia OMIM:608013
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s... OMIM:619418
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
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
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... OMIM:610377
Acute Liver Failure
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Hepatitis, Intracrani... ORPHA:90062
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
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
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocytes, Dilated card... OMIM:230500
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
Hurler-Scheie Syndrome
Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly, Contracture of the di... OMIM:607015
Liposarcoma
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:69078
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Hereditary Orotic Aciduria
Splenomegaly, Hip dysplasia, Anemia ORPHA:30
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, ... ORPHA:276621
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly ORPHA:42
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
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Idiopathic Bronchiectasis
Acute infectious pneumonia, Myocardial infarction, Bronchiectasis, Cachexia ORPHA:60033
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega... ORPHA:50918
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru... OMIM:225400
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly OMIM:255120
Congenital Dyserythropoietic Anemia Type Iii
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding ORPHA:98870
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, ... OMIM:235255
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Perioral eczema ORPHA:79242
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Multiple Sulfatase Deficiency
Splenomegaly, Broad hallux phalanx, Broad thumb, Hepatomegaly ORPHA:585
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Hepatomegaly, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Dilated cardiomy... OMIM:608836
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
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Palmoplantar hyperker... OMIM:617388
Wolfram Syndrome 2
Abnormal bleeding, Gastric ulcer, Decreased circulating antibody level OMIM:604928
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Juvenile Huntington Disease
Weight loss ORPHA:248111
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
Graft Versus Host Disease
Dupuytren contracture, Limited elbow movement, Jaundice, Lymphadenopathy, Chronic hepatitis, Hepa... ORPHA:39812
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Splenomegaly, ... OMIM:269860
Solitary Fibrous Tumor
Neoplasm of the liver, Constipation, Weight loss ORPHA:2126
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Abnormal sacroiliac joint morpho... ORPHA:32960
Eosinophilic Fasciitis
Myositis, Fasciitis, Arthritis, Weight loss ORPHA:3165
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficulties, Constipati... ORPHA:813
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Multiple Sulfatase Deficiency
Splenomegaly, Broad hallux, Broad thumb, Hepatomegaly OMIM:272200
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Camurati-Engelmann Disease
Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ul... ORPHA:1328
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:232300
Fucosidosis
Hepatomegaly, Coxa valga, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes OMIM:230000
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasi... ORPHA:1655
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... ORPHA:57777
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... ORPHA:261584
Beck-Fahrner Syndrome
Hip dysplasia, Ventricular septal defect, Cardiomegaly OMIM:618798
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Scheie Syndrome
Splenomegaly, Hepatomegaly ORPHA:93474
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Ly... ORPHA:93552
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Anemia, Metaphyseal irregularity OMIM:239200
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Re... ORPHA:420741
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, Hematemesis, Abdo... OMIM:301068
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Weight loss, Goiter OMIM:613239
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Dilated cardiomyopat... OMIM:615688
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop... ORPHA:565612
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
H Syndrome
Hallux valgus, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Camptodactyly, Decreased t... ORPHA:168569
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Abnormal heart rate variabil... ORPHA:206436
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Hypoplastic scapulae, Parotitis, Camptodactyly of finger, Microcytic... OMIM:256040
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
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Autoimmune thrombocytopenia, Short iliac bones, Metaphyseal sclerosis, Met... OMIM:607944
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
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
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Lympha... ORPHA:667
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Hennekam Syndrome
Lymphopenia, Finger syndactyly, Camptodactyly of finger, Pericardial effusion, Splenomegaly, Pulm... ORPHA:2136
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila... OMIM:620233
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... OMIM:617137
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
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
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
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
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... ORPHA:3472
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
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
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
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Weight loss, Orthostatic hypotension due to autonomic dysfunction, Dysphagia ORPHA:411602
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Cardiomegaly, ... ORPHA:268
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Enlarged... ORPHA:79078
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu... OMIM:608710
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
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
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... OMIM:614921
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, P... ORPHA:79128
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Pericardial effusion, Thrombocytopenia, Splenomegaly... ORPHA:167
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Avascular necrosis of the capital femoral ... ORPHA:581
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
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... OMIM:615934
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
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus, Cardiomegaly OMIM:620306
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphy... OMIM:617088
8P23.1 Microdeletion Syndrome
Cryptorchidism, Obesity, Weight loss, High palate, Hypertrophic cardiomyopathy ORPHA:251071
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Pancreatitis, Peptic ulcer, Episodic abdominal pain ORPHA:405
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Rheumatoid Arthritis
Vasculitis, Rheumatoid arthritis, Weight loss OMIM:180300
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Arterial Calcification, Generalized, Of Infancy, 2
Right atrial enlargement, Cardiomegaly OMIM:614473
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Bowel incontinence ORPHA:702
Familial Gestational Hyperthyroidism
Goiter, Diarrhea, Weight loss, Thyroid hyperplasia ORPHA:99819
Alveolar Echinococcosis
Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Weight loss, Increased circul... ORPHA:284
Proteus Syndrome
Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Testicular neoplasm, Metatars... ORPHA:744
Familial Mediterranean Fever
Pericarditis, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis ORPHA:342
Cystic Echinococcosis
Abdominal symptom, Abnormality of the testis size, Weight loss, Ovarian cyst, Membranous nephropa... ORPHA:400
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic... OMIM:300972
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Failure to thrive ORPHA:217346
Familial Thrombocytosis
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly ORPHA:71493
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
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Atrial septal defect, Clinodactyly of the 5th finger, Hepatoblastoma,... ORPHA:373
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Familial Aortic Dissection
Cardiomegaly ORPHA:229
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
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly OMIM:619259
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... ORPHA:2035
Beta-Ketothiolase Deficiency
Anorexia, Diarrhea, Weight loss, Hypertension, Vomiting, Hypotension ORPHA:134
Coccidioidomycosis
Pericarditis, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, ... ORPHA:228123
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly ORPHA:53715
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
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
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
Bohring-Opitz Syndrome
Ulnar deviation of the wrist, Cardiomegaly, Bilateral wrist flexion contracture, Fixed elbow flex... ORPHA:97297
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis OMIM:249100
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... OMIM:300967
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Femur fracture, Anemia, Hepatomegaly OMIM:612301
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurr... OMIM:619575
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ... ORPHA:449432
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M... OMIM:300855
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Weight loss, High palate, Dysphagia, Hype... OMIM:164310
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... ORPHA:228308
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Weight loss, Testicular te... ORPHA:764
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Gastrointestinal stroma tumor, F... ORPHA:221
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Weight loss ORPHA:90060
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:308552
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Abdominal pain, Weight loss, Syncope, Nausea ORPHA:71273
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Hepatic fibrosis, Talipes equinovaru... ORPHA:14
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Leukocytosis, Cervical lymp... ORPHA:2331
Nijmegen Breakage Syndrome
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Recurrent pneumonia, Cleft palate, ... ORPHA:647
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis... ORPHA:99413
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
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Turner Syndrome
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis... ORPHA:881
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Ventricular septal hyper... OMIM:269700
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight OMIM:605822
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
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
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
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Joint contracture of the ... OMIM:263700
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Splenomegaly, Polycystic ovaries, Cardiomyopathy, Large hands, ... OMIM:608594
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short palm, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Cry... OMIM:312870
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi... ORPHA:31204
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
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
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Cherubism
Submandibular lymph node enlargement OMIM:118400
Singleton-Merten Syndrome 1
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... OMIM:182250
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
Perry Syndrome
Weight loss OMIM:168605
Blau Syndrome
Pericarditis, Camptodactyly of finger, Splenomegaly, Lymphadenopathy, Abnormality of the liver, A... ORPHA:90340
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Ovarian neoplasm, Adreno... ORPHA:100079
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal... ORPHA:51
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp... ORPHA:116
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Aplasia of the sweat glands, Hepatomegaly OMIM:612132
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia, Anorexia ORPHA:1969
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastom... OMIM:130650
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cryptorchidism, Ventricular septal defect, Cardiomegaly ORPHA:96191
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno... ORPHA:77293
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Weight loss, Cardiomyopathy, Mi... ORPHA:576
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries ORPHA:137675
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Arachnodactyly, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
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
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Orchitis, Retroperitoneal fibrosis, Abnormality of the anterior pituit... ORPHA:449563
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pain, Intermediate uve... ORPHA:91500
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
Marburg Hemorrhagic Fever
Reticulocytosis, Pericarditis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphad... ORPHA:99826
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
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:536
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Xfe Progeroid Syndrome
Hypertension, Failure to thrive, Cachexia OMIM:610965
Malakoplakia
Orchitis, Follicular hyperplasia ORPHA:556
Leptospirosis
Hepatomegaly, Pericarditis, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509
Glycogen Storage Disease Due To Acid Maltase Deficiency
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:365
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Thrombocytopenia, Biliary cirrhosis, Lymphadenopathy... ORPHA:289390
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyperparathyroidism, Parathyroid hy... ORPHA:653
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
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Hepatic calcification, Myocardial ca... ORPHA:51608
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Increased pulmonary vascular resistance, Bronchiectasis, Weight loss, ... ORPHA:60025
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
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
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
Goodpasture Syndrome
Glomerulonephritis, Pulmonary hemorrhage, Weight loss OMIM:233450
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia ORPHA:649

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 Pglyrp4

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 Pglyrp4.

No publications found that use IMPC mice or data for Pglyrp4.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pglyrp4tm42554(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pglyrp4tm42554(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pglyrp4em1(IMPC)Ccpcz Exon Deletion Mice

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