Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
interleukin 10
Synonyms:
cytokine synthesis inhibitory factor,  IL-10

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Il10 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.

The table below shows human diseases associated to Il10 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Il10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia OMIM:191390
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me... OMIM:614372
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Hyperlipoproteinemia, Type Id
Failure to thrive, Colitis OMIM:615947
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr... OMIM:266600
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium, Abdominal distention OMIM:616868
Visceral Myopathy 2
Dysphagia, Megaduodenum, Rectal prolapse, Intestinal pseudo-obstruction, Esophagitis, Volvulus, G... OMIM:619350
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... OMIM:613953
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis, Hematochezia OMIM:613148
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Malabsorption, Arthri... OMIM:300310
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Recurrent otitis media, Lymphopenia OMIM:615615
Refractory Celiac Disease
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Malnutrition, Abdominal pain, Inf... ORPHA:398063
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Mucoid diarrhea, Growth delay, Failure to thrive, Decreased ... OMIM:615767
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:613501
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating a... OMIM:300635
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... OMIM:612692
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Decreased prealbumin level, Abnormal intestine morphology, Neutropenia, Eczema, Tubuloint... ORPHA:37042
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... OMIM:618204
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Lymphopenia, Dec... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Rectal prolapse, Tenesmus, Stercoral ulcer, Intermittent... ORPHA:209964
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Colitis, Acne, Arthritis, Knee f... OMIM:604416
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, T lymphocytopenia OMIM:608971
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Celiac Disease, Susceptibility To, 1
Eczema, Short stature, Rickets, Stomatitis, Abdominal distention, Postnatal growth retardation, S... OMIM:212750
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Re... OMIM:613502
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Feeding difficulties in infancy, Villous atrophy, Short stature, Failure to thrive... OMIM:616050
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, High palate, Recurrent sinopulmonary infections, Recurrent fungal infectio... OMIM:147060
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Progeria-Short Stature-Pigmented Nevi Syndrome
Short stature, Insulin-resistant diabetes mellitus, Premature ovarian insufficiency, Supraventric... ORPHA:2959
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Sickle Cell Anemia
Hypoxemia, Leukocytosis, Abnormality of the spleen, Unconjugated hyperbilirubinemia, Thrombocytos... ORPHA:232
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Pgm3-Cdg
Lactose intolerance, Eczema, Sepsis, Neutropenia, Short stature, Neutropenia in presence of anti-... ORPHA:443811
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Recurrent bacterial infections, Agammaglobulinemia, Pneumonia, Bronchiectasis, Recurre... OMIM:601495
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Alg12-Cdg
Sepsis, Decreased serum insulin-like growth factor 1, Talipes equinovarus, Complete or near-compl... ORPHA:79324
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Anorexia, Enlarged mesenteric lymph node, Pneumonia, Hypoplasia of ... OMIM:209950
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Feeding difficulties in infancy, Short stature, Elevated hepatic ... OMIM:619013
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Anal canal squamous carcinoma, Chronic otitis me... ORPHA:217390
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Lymphadenopathy, Recurrent infections, Splenomegaly,... OMIM:614700
Immunodeficiency 70
Decreased circulating total IgA, Celiac disease, Decreased circulating total IgG, Verrucae, Decre... OMIM:618969
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... ORPHA:231226
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Failure to thrive, Multiple gastric polyps... OMIM:174900
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the live... ORPHA:424019
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Increased circu... ORPHA:540
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Pulmonary insufficiency, Abse... ORPHA:277
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Thrombocytosis, Abnormal intestine morphology, Hepatomegaly, Growth delay, Vomit... OMIM:226300
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
H Syndrome
Facial telangiectasia, Hallux valgus, Short stature, Lymphadenopathy, Pes planus, Hepatosplenomeg... ORPHA:168569
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Respiratory insuffici... ORPHA:848
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Villous... OMIM:209920
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... ORPHA:157794
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Candidiasis, Familial, 2
Lymphadenopathy, Chronic oral candidiasis, Decreased serum iron, Onychomycosis, Chronic tinea inf... OMIM:212050
Beta-Thalassemia Major
Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomeg... ORPHA:231214
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Lymphadenopathy, Hepatospl... OMIM:619126
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Esophageal varix, Recurrent infections, Patent ductus arteri... OMIM:614576
Immunodeficiency 76
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Recurrent pneumonia, Lymphopenia, T ly... OMIM:619164
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Severe varicella zoster infection, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes m... OMIM:606367
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Erlenmeyer fl... OMIM:610539
Aspergillosis
Sinusitis, Neutropenia, Hepatitis, Unusual CNS infection, Eosinophilia, Chronic pulmonary obstruc... ORPHA:1163
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Macroglossia, Craniosynostosis, Recurrent otitis media, Joint contracture... OMIM:618523
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abdominal pain, St... ORPHA:2869
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia OMIM:269840
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Intestinal obstruction, Ab... ORPHA:26790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Failure to thrive, Lymphadenopathy, Recurrent otitis... OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Short stature, Lymphadenopathy, Increased circulating interleukin 8, Splenomegaly,... OMIM:256040
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Hypoxemia, Leukocytosis, Wheezing, Crackles, Weight loss, Increased circulatin... ORPHA:2902
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Intrauterine growth retardation, Vomiting, Long philtrum, Failure to thrive, Talipe... OMIM:608104
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Esophageal varix, Portal fibrosis, Short stature, Recurrent i... ORPHA:264580
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Tricuspid stenosis, Mechanical ileus, Intestinal carcinoid, Abdominal colic, Il... ORPHA:100079
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Temple Syndrome
Cleft palate, Short stature, Micrognathia, High palate, Intrauterine growth retardation, Truncal ... OMIM:616222
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Recurrent otitis media, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Ly... ORPHA:444463
Majeed Syndrome
Inflammatory abnormality of the skin, Leukocytosis, Abnormal inflammatory response, Cachexia, Pus... ORPHA:77297
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Neutropenia, Villous atrophy, Erythroderma, Glomerulonephritis, Coombs-positive hemolytic... OMIM:304790
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Juvenile Polyposis Of Infancy
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Short stature, Hem... ORPHA:79076
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Chronic diarrhe... OMIM:618805
Leishmaniasis
Hepatomegaly, Abnormal oral cavity morphology, Anorexia, Leukopenia, Elevated hepatic transaminas... ORPHA:507
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Decreased circulating IgA level, Decreased circulating IgG l... OMIM:619281
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Gout... OMIM:610947
Shwachman-Diamond Syndrome
Sinusitis, Carious teeth, Eczema, Sepsis, Neutropenia, Pancreatic hypoplasia, Short stature, Leuk... ORPHA:811
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Abnormality of epiphysis morphology... ORPHA:324964
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Recurrent infections, Decreased proportion of CD3-positive T cells,... ORPHA:169154
Primary Intestinal Lymphangiectasia
Functional abnormality of the gastrointestinal tract, Decreased circulating antibody level, Reduc... ORPHA:90362
Wiskott-Aldrich Syndrome
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu... ORPHA:906
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Micrognathia, High palate, Erythroid hyperplasia, Failure to thrive, Pappenheimer bodies, Hypochr... OMIM:600462
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Hypertriglyceridemia, Splenomegaly OMIM:619175
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hypernatremia, Cholesteatoma, Lymphadenopathy, Hepatitis, Recurrent infections, S... OMIM:619381
Immunodeficiency 23
Eczema, Severe varicella zoster infection, Neutropenia, Recurrent staphylococcal infections, Eosi... OMIM:615816
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... OMIM:608957
Immunodeficiency 37
Decreased circulating antibody level, Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Pelvic Organ Prolapse, Susceptibility To
Bowel incontinence, Rectal prolapse OMIM:176780
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia, Atopic dermat... OMIM:618806
Macrophage Activation Syndrome
Neutropenia, Lymphadenopathy, Hepatitis, Splenomegaly, Increased circulating ferritin concentrati... ORPHA:158061
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Neutropenia, Elevated circulating creatine kinase concentration, Macroglossia, Pes ... OMIM:251900
Lead Poisoning
Imbalanced hemoglobin synthesis, Tubulointerstitial nephritis, Abnormal respiratory system physio... ORPHA:330015
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Jaundice, Increased circulating... OMIM:603552
Immunodeficiency 64
Lymphadenopathy, Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsi... OMIM:618534
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Carious teeth, Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepat... ORPHA:79259
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Decreased response to growth hormone stimulation test, Decreased ci... ORPHA:470
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Short stature, Recurrent infections, Splenomegaly, Postnatal growth retarda... ORPHA:79240
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Cleft palate, Atelectasis, Chronic otitis media, Craniosynostosis, Recurrent infections, ... ORPHA:2314
Selective Igm Deficiency
Sepsis, Thyroid carcinoma, Non-infectious meningitis, Severe varicella zoster infection, Recurren... ORPHA:331235
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Igg4-Related Aortitis
Weight loss, Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE l... ORPHA:449400
Acquired Idiopathic Sideroblastic Anemia
Neutropenia, Normochromic anemia, Splenomegaly, Pancytopenia, Anemia of inadequate production, Le... ORPHA:75564
Sepsis In Premature Infants
Neutropenia, Abnormal respiratory system physiology, Functional abnormality of the gastrointestin... ORPHA:90051
Esophagitis, Eosinophilic, 2
Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Dysphagia, Esophagitis, Vomiting OMIM:610247
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Splenomegaly, Increased circulating ferritin concentration, Diabetes mellitus... ORPHA:465508
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Niemann-Pick Disease, Type A
Hepatomegaly, Feeding difficulties in infancy, Constipation, Vomiting, Short stature, Failure to ... OMIM:257200
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Anemia, Mal... ORPHA:2070
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Mucopolysaccharidosis-Plus Syndrome
Sepsis, Neutropenia, Patent ductus arteriosus, Splenomegaly, Recurrent respiratory infections, Hy... OMIM:617303
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Failure to thrive, Decreased circulating ant... OMIM:618108
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Eczema, Short stature, Neutropenia in presence of anti-neutropil a... ORPHA:391487
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Small intestinal dysmotility, Diarrhea, Abdominal pain, Vomiting, Hypogonad... ORPHA:298
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Abnormality of body weight, Insulin-res... ORPHA:2298
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... ORPHA:2442
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... ORPHA:220460
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Increased alpha-globulin, Histiocytosis OMIM:235900
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Lymphadenopathy, Recurrent upper and lower respir... ORPHA:911
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Beta-Thalassemia Intermedia
Adrenal insufficiency, Reduced bone mineral density, Splenomegaly, Hepatosplenomegaly, Diabetes m... ORPHA:231222
Ménétrier Disease
Hypoproteinemia, Anorexia, Hypochromic microcytic anemia, Abnormal gastric mucosa morphology, Sto... ORPHA:2494
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Failure to thrive in infancy, Small for gestational age, Feeding difficulties, Hypoplasia... OMIM:617241
Leukocyte Adhesion Deficiency Type Ii
Abnormal isohemagglutinin level, Long upper lip, Short stature, Recurrent infections, Umbilical h... ORPHA:99843
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Hyponatremia, Rectal prolapse, Unconjugated hyperbilirubinemia, Bloody diarrhea, Hy... ORPHA:90038
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Punctate Palmoplantar Keratoderma Type 1
Neoplasm of the lung, Esophageal neoplasm, Adenocarcinoma of the small intestine, Stomach cancer,... ORPHA:79501
Immunodeficiency 58
Eczema, Short stature, Chronic otitis media, Decreased circulating antibody level, Fatigue, Recur... OMIM:618131
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Sepsis, Third degree atrioventricular block, Cleft palate, Increased feca... OMIM:619573
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly... OMIM:278000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Splenomegaly, Decreased circulating total IgM, Abnormality of pelvic girdle bone morph... OMIM:102700
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Feeding difficulties in infancy, Hepatomegaly, Hepatic fibrosis, Vomiting, Hyperg... OMIM:212065
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Abscess,... OMIM:150550
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating... ORPHA:100024
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Whipple Disease
Myocarditis, Splenomegaly, Gastrointestinal hemorrhage, Uveitis, Diarrhea, Abdominal pain, Hypona... ORPHA:3452
Blackfan-Diamond Anemia
Neutropenia, Triphalangeal thumb, Short stature, Normochromic anemia, Erythroid hypoplasia, Cleft... ORPHA:124
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... ORPHA:447877
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Neutropenia, Short stature, Recurrent infections, Hyperammonemia, Lymphocy... ORPHA:1667
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Neutropenia in presence of anti-neutropil antibodies,... OMIM:619220
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Reduced circula... ORPHA:90363
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo... ORPHA:247798
Alg6-Cdg
Macroglossia, Feeding difficulties, Failure to thrive, Shortening of all distal phalanges of the ... ORPHA:79320
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Anorexia, Stomach cancer, Tapered finger, Gastrointestinal carcinoma, Ane... ORPHA:2930
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Decreased circulating antibody level, Capillary hemangio... ORPHA:508533
Hepatoportal Sclerosis
Esophageal varix, Leukopenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, Gastric varix... ORPHA:64743
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Pleural empyema, Elevated circulating alkaline phosphatase concentrati... ORPHA:67
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, T lymphocytopeni... OMIM:601457
Majeed Syndrome
Inflammatory abnormality of the skin, Growth delay, Erythroid hyperplasia, Failure to thrive, Ost... OMIM:609628
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Inflammation of the large intestine, Eczema, Failure to thrive, Decreased circulating ... OMIM:608809
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Increased circulating ferritin concentra... ORPHA:158057
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis,... OMIM:611762
Netherton Syndrome
Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Erythroderma, Failure to thriv... OMIM:256500
Sweet Syndrome
Dilated cardiomyopathy, Inflammation of the large intestine, Recurrent infections, Acne inversa, ... ORPHA:3243
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoproteinemia, Abnormal intestine morphology, Anorexia, Neutropenia, Vomiting, Decreased... OMIM:600351
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, B lymphocytopenia, Sinusitis, Decreased specific antibody response to polysacc... ORPHA:70593
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Autoimmune Hepatitis
Spider hemangioma, Inflammation of the large intestine, Hepatocellular carcinoma, Glomerulonephri... ORPHA:2137
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Abdominal distention, Hepatitis, Conjugated hyperbilir... ORPHA:186
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Unconjugated hyperbilirubinemia, Esophageal varix, Rickets, Short stature, Slender ... OMIM:613658
Immune Deficiency Disease
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... OMIM:242850
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Micrognathia, Flexion contracture of toe, Short stature, Abnormality of epiphysis... ORPHA:3409
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Blue Rubber Bleb Nevus
Cavernous hemangioma, Gastrointestinal infarctions, Visceral angiomatosis, Volvulus, Microcytic a... ORPHA:1059
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Decreased serum insulin-like growth factor 1, Celiac disease, Short stature, Recurrent in... OMIM:618985
Atransferrinemia
Congestive heart failure, Atransferrinemia, Hypochromic anemia, Abnormality of the liver OMIM:209300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Pyloric stenosis, Cleft palate, Short stature, Postnatal growth retardation, Micrognathia, High p... ORPHA:96184
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Neutropenia, Short stature, Chronic otitis media, Hepatitis, Conjunctivitis, R... ORPHA:47
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Cholangitis, Eczema, Feeding difficulties in infancy, Portal fibrosis, Ab... ORPHA:3260
Hamamy Syndrome
Smooth philtrum, Syndactyly, Micrognathia, High palate, Hypodontia, Mitral regurgitation, Long ph... OMIM:611174
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne... OMIM:300400
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... ORPHA:95427
Ganglioneuroma
Colorectal polyposis, Hypertension, Neoplasm of the adrenal gland, Functional intestinal obstruct... ORPHA:251992
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, High palate, Intrauterine growth retardation, Short philtrum, Maturity-onset diabet... ORPHA:254531
Abetalipoproteinemia
Talipes equinovarus, Hypotriglyceridemia, Steatorrhea, Respiratory failure, Decreased HDL cholest... ORPHA:14
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Intrauterine growth retardation, Helicobacter py... ORPHA:275555
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Hypocholesterolemia, Failure to thri... OMIM:607765
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, ... OMIM:603553
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... ORPHA:36234
Shigellosis
Myocarditis, Sepsis, Hypoglycemia, Tenesmus, Uveitis, Abdominal pain, Conjunctivitis, Abnormal bl... ORPHA:810
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Esophageal varix, Portal fibrosis, Splenomegaly, Diarrhea, Abnormal erythro... ORPHA:370
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent infections, Raynaud phenomenon, Recurrent respiratory infections, Elevated circulating ... OMIM:615934
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Carious teeth, Gastrostomy tube feeding in infancy, Anal fissure, Malnutr... ORPHA:89842
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h... OMIM:615518
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension, Hemolytic ... OMIM:619487
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Decreased s... OMIM:300853
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Micrognathia, High palate, Short stature, Talipes equinovarus, Failure to thrive, Malar flattenin... ORPHA:98791
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Hepatomegaly, Sepsis, Bronchiectasis, Decreased circulating IgA ... OMIM:616100
Wiskott-Aldrich Syndrome
Sepsis, Impaired lymphocyte transformation with phytohemagglutinin, Inflammation of the large int... OMIM:301000
Immunoerythromyeloid Hypoplasia
Lymphoproliferative disorder, Decreased circulating IgG level, Absent leukocyte alkaline phosphat... OMIM:242880
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Hepatomegaly, Allergic rhinitis, Failure to thrive, Anemia, Splenomegaly, Osteopen... OMIM:612714
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, Diarrhea OMIM:614602
Syndromic Diarrhea
Short stature, Hypoplasia of the thymus, Recurrent infections, Patent ductus arteriosus, Splenome... ORPHA:84064
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Short stature, Hypocholesterolemia, Elevated circulating creatine kinase conc... ORPHA:96180
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgA level, Recurrent bronch... OMIM:240500
Thymoma
Imbalanced hemoglobin synthesis, Leukemia, Decreased circulating antibody level, Prostate neoplas... ORPHA:99867
Avian Influenza
Sepsis, Hepatitis, Respiratory failure, Diarrhea, Elevated circulating C-reactive protein concent... ORPHA:454836
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Oral bleeding, Decreased circulating tota... OMIM:600903
Proteus-Like Syndrome
Thymus hyperplasia, Lower limb asymmetry, Open bite, Hemangioma, Mandibular prognathia, Hyperosto... ORPHA:2969
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Oral ulcer... OMIM:618852
Al Amyloidosis
Abdominal distention, Gastroparesis, Gastrointestinal hemorrhage, Elevated circulating alkaline p... ORPHA:85443
Late-Onset Isolated Acth Deficiency
Sepsis, Hypoglycemia, Hepatitis, Type I diabetes mellitus, Adrenocorticotropin deficient adrenal ... ORPHA:199299
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Decreased circulating antibody level, Hyperammonemia, Hyperthreoninemia, Hepat... ORPHA:247598
Alg1-Cdg
Hypoalbuminemia, Sepsis, Recurrent infections, Cardiomyopathy, Chronic diarrhea, Decreased liver ... ORPHA:79327
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Autosomal Dominant Spastic Paraplegia Type 29
Impaired proprioception, Hyperbilirubinemia, Abnormal rectum morphology, Impaired vibratory sensa... ORPHA:101009
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Vomiting, Failure to thrive, Hypercholesterolemia, Hypoalbuminem... OMIM:615863
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Hemochromatosis Type 2
Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Abnormality of iron homeost... ORPHA:79230
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Erysipelas, Intestinal lymphangiectasia, Pach... OMIM:235510
Rothmund-Thomson Syndrome Type 1
Carious teeth, Neoplasm of the skin, Genu varum, Neutropenia, Short stature, Leukemia, Functional... ORPHA:221008
Degcags Syndrome
Pyloric stenosis, Smooth philtrum, Talipes equinovarus, Recurrent infections, Patent ductus arter... OMIM:619488
Cog4-Cdg
Recurrent infection of the gastrointestinal tract, Failure to thrive in infancy, Growth delay, Fe... ORPHA:263501
Immunodeficiency 47
Decreased circulating antibody level, Recurrent infections, Splenomegaly, Accessory spleen, Decre... OMIM:300972
Rothmund-Thomson Syndrome Type 2
Carious teeth, Neoplasm of the skin, Cleft palate, Neutropenia, Genu varum, Short stature, Leukem... ORPHA:221016
Immunodeficiency 85 And Autoimmunity
Eczema, Tube feeding, Villous atrophy, Erythroderma, Vomiting, Failure to thrive in infancy, Decr... OMIM:619510
Hemochromatosis, Type 1
Testicular atrophy, Increased serum iron, Telangiectasia, Hepatomegaly, Hepatocellular carcinoma,... OMIM:235200
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Vomiting, Failure to thrive, H... OMIM:602579
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Ileal ulcer, Lymphopenia, Skin rash, Oral ulcer, Thrombocytopenia, Hem... OMIM:616744
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Bone cyst, Insulin resi... ORPHA:528
Autosomal Erythropoietic Protoporphyria
Eczema, Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia, Abnormal circulat... ORPHA:79278
Aggressive Systemic Mastocytosis
Neutropenia, Leukemia, Lymphadenopathy, Pathologic fracture, Hepatosplenomegaly, Hypersplenism, G... ORPHA:98850
Marburg Hemorrhagic Fever
Hypoglycemia, Neutrophilia in presence of infection, Lymphadenopathy, Odynophagia, Hyperammonemia... ORPHA:99826
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Refractory Anemia With Excess Blasts
Leukocytosis, Chronic infection, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volu... ORPHA:86839
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Hypokalemia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabs... OMIM:175500
Congenital Disorder Of Glycosylation, Type Iiw
Pes planus, Splenomegaly, Type I diabetes mellitus, Elevated circulating alkaline phosphatase con... OMIM:619525
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Micrognathia, Severe postnatal growth retardation, Short stature, Insulin-resistant diabetes mell... ORPHA:293967
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... OMIM:606069
Wolman Disease
Nausea and vomiting, Adrenal insufficiency, Cachexia, Hepatomegaly, Esophageal varix, Growth dela... ORPHA:75233
Cyclic Neutropenia
Sinusitis, Sepsis, Lymphadenopathy, Periodontitis, Cyclic neutropenia, Abdominal pain, Decreased ... ORPHA:2686
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... OMIM:615234
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Carious teeth, Decreased plasma total carnitine, Anal fissure, Malnutriti... ORPHA:79408
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Eosinophilia, Elevated circulating C-reactive prot... ORPHA:449395
Klippel-Trénaunay Syndrome
Hepatomegaly, Respiratory insufficiency, Lower limb asymmetry, Hemangioma, Patent ductus arterios... ORPHA:90308
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, D... ORPHA:231401
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... OMIM:616278
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Decreased circulating IgG le... OMIM:308240
Reticular Dysgenesis
Sepsis, Leukopenia, Chronic otitis media, Failure to thrive, Weight loss, Decreased circulating a... ORPHA:33355
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Infectious encephalitis, ... OMIM:267700
Congenital Disorder Of Glycosylation, Type Ig
Short femur, Short philtrum, Small for gestational age, Talipes equinovarus, Failure to thrive, F... OMIM:607143
Acatalasemia
Type II diabetes mellitus, Gingival bleeding, Premature loss of permanent teeth, Reduced catalase... ORPHA:926
Proteus Syndrome
Carious teeth, Ovarian neoplasm, Hallux valgus, Thymus hyperplasia, Sirenomelia, Meningioma, Neop... ORPHA:744
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Sepsis, Patent ductus arteriosus, Hepatosplenomegaly, Recurrent respiratory infections, Conjuncti... ORPHA:505248
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Sepsis, Growth delay, Failure to thrive, Feeding difficulties, Decreased circulating antibody lev... ORPHA:79396
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myelodysplasia, Myositis, Arthralgia, Myalgia, Incr... ORPHA:48104
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Growth delay, Increased circulating IgA level, Failure ... OMIM:617388
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Recurrent infections, Splenomegaly, Osteoporosis, Osteopenia, Hepatic steatosis... OMIM:613327
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Hypoglycemia, Constipation, Neoplasm of the lung, Soft tissue neoplasm, Prostat... ORPHA:2126
Plummer-Vinson Syndrome
Decreased circulating ferritin concentration, Dysphagia, Hypochromic microcytic anemia, Iron defi... ORPHA:54028
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Erythroderma, Pneumonia, Lymphadenopathy, Hypop... OMIM:603554
Rothmund-Thomson Syndrome
Carious teeth, Neoplasm of the skin, Neutropenia, Short stature, Leukemia, Aplasia/Hypoplasia of ... ORPHA:2909
Hepatocellular Carcinoma
Hypoglycemia, Esophageal varix, Hemobilia, Abdominal distention, Abnormality of the hepatic vascu... ORPHA:88673
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Esophageal varix, Splenomegaly, Hypercholesterolemia, Cirrhosi... ORPHA:75234
Graft Versus Host Disease
Stomatitis, Lymphadenopathy, Fasciitis, Recurrent infections, Hepatosplenomegaly, Dupuytren contr... ORPHA:39812
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Sepsis, Neutropenia, Infectious encephalitis, Leukopenia, Hepatitis, A... ORPHA:292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Feeding difficulties in infancy, Generalized aminoaciduria, Hypoglycemia, Hepatocel... OMIM:251880
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Short stature, Severe postnatal growth retardation, Hepatitis, Ane... ORPHA:440713
Oculocerebral Hypopigmentation Syndrome Of Preus
Widely spaced teeth, High, narrow palate, High palate, Microdontia, Growth delay, Hypochromic anemia OMIM:257790
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Lymphadenopathy, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eos... ORPHA:98849
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili... ORPHA:482
Radiation Proctitis
Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum mo... ORPHA:70475
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Esophageal varix, Abdominal distention, Bone-marrow foam cells,... ORPHA:275761
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Rec... ORPHA:572
Alpha-Thalassemia
Myelodysplasia, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcy... ORPHA:846
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia, Hepatomegaly, Hypoglycemia, Vomiting, Elevated circulating creat... ORPHA:42
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Hypogonadotropic hypogonadism, Anemia, Elevated transferrin sa... OMIM:604250
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Lymphoma, Splenomegaly, Vasculiti... ORPHA:37748
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Short stature, Lymphadenopathy, Recurrent infections, Splenomegaly, Crohn's disease, Hepa... OMIM:618935
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... ORPHA:411696
Renpenning Syndrome
High, narrow palate, Cachexia, Cleft palate, Short philtrum, Growth delay, Mandibular prognathia,... ORPHA:3242
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Leukocytosis, Anorexia, Ankle swelling, Weight loss, Anemia, Hypochromic ... ORPHA:514
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly, Elevated hepatic tran... ORPHA:75563
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Myocarditis, Septic arthritis, Pleural empyema, Intussusception, Diabetes mellitus... ORPHA:544482
African Iron Overload
Increased circulating cortisol level, Hepatitis, Increased circulating ferritin concentration, Di... ORPHA:139507
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Bloody diarrhea, Defective T cell proliferation, Severe varicella z... OMIM:618213
Zygomycosis
Brain abscess, Sinusitis, Colon perforation, Myocarditis, Neutropenia, Fasciitis, Hepatitis, Mele... ORPHA:73263
Mpi-Cdg
Portal hypertension, Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemi... ORPHA:79319
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Elevated he... OMIM:306000
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Diarrhea, Hemolyt... OMIM:308230
Whim Syndrome 1
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgG level, Decreased circul... OMIM:193670
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Growth delay, Lymphadenopathy, Anemia, Malabsor... ORPHA:100025
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Bronchiectasis... OMIM:608184
Somatostatinoma
Increased circulating cortisol level, Neoplasm of the small intestine, Primary hyperparathyroidis... ORPHA:97283
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Rickets, Iron deficiency anemia, Bowing of the legs, Hypophosphatemia, Elevated cir... ORPHA:89937
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Neuroendocrine Tumor Of Stomach
Right ventricular failure, Facial telangiectasia, Atypical pulmonary carcinoid tumor, Melena, Nau... ORPHA:100075
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... OMIM:607271
Oculocerebrorenal Syndrome Of Lowe
Odontogenic neoplasm, Neoplasm of the skin, Feeding difficulties in infancy, Carious teeth, Short... ORPHA:534
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Increased circulating IgA level, Functional abnormality of the g... ORPHA:29073
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Hypocholesterolemia, Failure to thrive, Osteoporosis, Malar flattening, Steatorrhea OMIM:266510
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, A... OMIM:614878
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Intrauterine growth retardation, Failure to thriv... OMIM:617156
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis OMIM:613779
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Insulin resista... OMIM:615703
Postinfectious Vasculitis
Severe varicella zoster infection, Raynaud phenomenon, Recurrent candida infections, Elevated cir... ORPHA:48435
Blue Rubber Bleb Nevus
Volvulus, Intussusception, Rectal prolapse, Intestinal bleeding OMIM:112200
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Eczema, Microcytic anemia OMIM:612379
Dermatitis Herpetiformis
Recurrent fractures, Eczema, Microcytic anemia, Malabsorption ORPHA:1656
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatomegaly, Esophageal varix, Respiratory insufficiency, Elevated hepat... ORPHA:367
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Metaphyseal dysplasia, Growth delay, Short stature, Elevated circulating creatine k... OMIM:614727
Brucellosis
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Netherton Syndrome
Eczema, Erythroderma, Short stature, Decreased circulating antibody level, Recurrent infections, ... ORPHA:634
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Aredyld Syndrome
Hepatomegaly, Cachexia, Smooth philtrum, Type II diabetes mellitus, Intrauterine growth retardati... ORPHA:1133
Addison Disease
Androgen insufficiency, Hypoglycemia, Adrenal hypoplasia, Type I diabetes mellitus, Premature ova... ORPHA:85138
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Diar... ORPHA:83471
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Decreased circulating antibody level, Splenome... ORPHA:2585
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... OMIM:612260
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Bronchiectasis, Lymphadenitis, Partial absence of spe... OMIM:618986
Potocki-Lupski Syndrome
Feeding difficulties in infancy, High palate, Smooth philtrum, Micrognathia, Small for gestationa... OMIM:610883
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Failure to thriv... ORPHA:181393
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceri... OMIM:618398
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso... OMIM:613662
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts OMIM:182170
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Growth delay... ORPHA:171706
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Ca... OMIM:613313
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Rickets, Conjugated hyperbilirubinemia, Steatorrhea, E... ORPHA:79303
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Vomiting, Megaloblastic anemia, Decreased circulating ... OMIM:617780
Chylomicron Retention Disease
Growth delay, Vomiting, Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea,... OMIM:246700
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... ORPHA:562
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatocellular necrosis, Reduced ejection fraction, Exercise-induced... OMIM:201475
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Idiopathic Achalasia
Wheezing, Decreased prealbumin level, Dysphagia, Recurrent aspiration pneumonia, Weight loss, Cou... ORPHA:930
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia, Short stature, Failure to thrive, Abdominal distenti... OMIM:619423
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Feeding difficulties in infancy, Cleft palate, Hip contracture, Short statu... ORPHA:800
Trichohepatoenteric Syndrome 1
Short stature, Diarrhea, Large placenta, Hypermethioninemia, Jaundice, Increased mean platelet vo... OMIM:222470
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
Bloom Syndrome
Neoplasm of the skin, Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent ... ORPHA:125
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Nausea, Lymphadenopathy, Increased circulating IgG level, R... ORPHA:83313
Chylomicron Retention Disease
Growth delay, Vomiting, Hypocholesterolemia, Acanthocytosis, Abdominal distention, Failure to thr... ORPHA:71
Ileal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Lymphadenopathy, Palpit... ORPHA:100078
Jejunal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Small intestine carcinoid, Lymphadenopathy, Palpit... ORPHA:100077
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short stature, Hypoplastic iliac wing, Mandibular prognathia, Increased circulating IgE level, Hi... ORPHA:1858
Galloway-Mowat Syndrome 6
High palate, Microdontia, Wide mouth, Short stature, Decreased response to growth hormone stimula... OMIM:618347
Dyskeratosis Congenita, Autosomal Recessive 5
Intrauterine growth retardation, Decreased circulating antibody level, Bone marrow hypocellularit... OMIM:615190
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anorexia, Cachexia, Hepatomegaly, Hemangioma, Lymphadenopathy, Anem... ORPHA:824
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Lymphadenopathy, Abnormality of the sphenoid sinus, Eosinophilia, Elevate... ORPHA:449563
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:614480
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Short stature, Metaphyseal irregularity, R... ORPHA:93315
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Neoplasm of the central nervous system, Neoplasm of the lung, Ovar... ORPHA:83469
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Decreased serum creatinine, Myocardial infarction, Abnormal la... ORPHA:54057
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Lymphadenopathy, Hepatosplenomegaly, Gastrointestinal hemorrhage, D... ORPHA:85450
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration, Gingival bleeding, Umbilical hernia, Hyp... OMIM:606893
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Micrognathia, Cleft palate, Intrauterine growth retardation, Adducte... OMIM:616897
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Short stature, Arachnodactyly, Hypochromic anemia, Reduced bone mineral density, Abn... ORPHA:2720
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Growth delay, Rickets, Iron deficiency anemia, Abdominal distention, ... ORPHA:309031
Peutz-Jeghers Syndrome
Rectal prolapse, Gastrointestinal carcinoma, Neoplasm of the pancreas, Uterine neoplasm, Breast c... OMIM:175200
Poikiloderma With Neutropenia
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... OMIM:604173
Familial Adenomatous Polyposis
Neoplasm of the adrenal gland, Neoplasm of the gallbladder, Cholangiocarcinoma, Goiter, Adenomato... ORPHA:733
Galactokinase Deficiency
Hepatomegaly, Neonatal asphyxia, Hypergalactosemia, Hypoglycemia, Small for gestational age, Fail... ORPHA:79237
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hyperli... ORPHA:247585
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Lymphadenopathy, Insulinoma, Melena, Intestinal ca... ORPHA:100076
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:606843
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Congenital Lethal Erythroderma
Respiratory insufficiency, Failure to thrive, Malabsorption, Hypoalbuminemia, Congenital exfoliat... ORPHA:1954
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Abnormal lactate dehydrogenase level, Cryptorch... ORPHA:67044
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Splenomegaly, Uveitis, Restrictive ventilatory defect, Pancy... OMIM:181000
Turner Syndrome Due To Structural X Chromosome Anomalies
Irregular proximal tibial epiphyses, Inflammation of the large intestine, Short 5th metacarpal, H... ORPHA:99413
Mosaic Monosomy X
Irregular proximal tibial epiphyses, Inflammation of the large intestine, Short 5th metacarpal, H... ORPHA:99228
Monosomy X
Irregular proximal tibial epiphyses, Inflammation of the large intestine, Short 5th metacarpal, H... ORPHA:99226
Turner Syndrome
Irregular proximal tibial epiphyses, Inflammation of the large intestine, Short 5th metacarpal, H... ORPHA:881
Mevalonic Aciduria
Short stature, Lymphadenopathy, Recurrent infections, Hepatosplenomegaly, Diarrhea, Elevated circ... OMIM:610377
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Abnormal intestine morphology, Neutropenia, Hyperlipid... ORPHA:1830
Srd5A3-Cdg
Palmoplantar keratoderma, Microcytic anemia, Hypothyroidism, Elevated hepatic transaminase, Decre... ORPHA:324737
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hypoproteinemia, Neonatal respiratory distress, Growth delay, Hyperlipidemia, S... OMIM:256300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Reduced forced vital capacity, Microcytic anemia, Tongue fasciculations OMIM:618811
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, EBV encephalitis, S... OMIM:615122
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Lymphoproliferative Syndrome 1
Stomatitis, Lymphadenopathy, Decreased circulating antibody level, Recurrent infections, Splenome... OMIM:613011
Morgagni-Stewart-Morel Syndrome
Hypertension, Abnormality of the endocrine system, Osteoporosis, Acne, Hyperuricemia, Hypercholes... ORPHA:77296
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased ci... ORPHA:331206
Neutropenia, Chronic Familial
Premature loss of teeth, Neutropenia, Clubbing, Periodontitis, Increased circulating antibody lev... OMIM:162700
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Cholelithiasis, Eleva... OMIM:300752
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Anemia, Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia ORPHA:3319
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Lymphadenopathy, Recurrent infections, Sple... ORPHA:47612
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Anorexia, Inappropriate antidiuretic hormone secretion, Increased serum ... ORPHA:100083
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Neonatal respiratory distress, Neutropenia, Short st... OMIM:260400
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma OMIM:147050
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Growth delay, Hypocalcemic seizures, Decreased circulating IgA level, Osteopetrosis... OMIM:612301
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the lung, Neoplasm of the liver, Chronic fat... ORPHA:424016
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Rickets, Metaphyseal irregularity, Hypophosphatemia, Delayed eruption of t... OMIM:264700
Roifman Syndrome
Eczema, Hip contracture, Short stature, Lymphadenopathy, Decreased circulating antibody level, Ep... ORPHA:353298
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Ring Chromosome 10 Syndrome
Cachexia, Aganglionic megacolon, Micrognathia, Intrauterine growth retardation, Long philtrum, Ta... ORPHA:1438
Mantle Cell Lymphoma
Anorexia, Lymphadenopathy, Weight loss, Splenomegaly, B-cell lymphoma, Abnormality of the gastroi... ORPHA:52416
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic stea... OMIM:612526
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Eczema, Cleft palate, 2-3 toe syndactyly, Short stature, Epiphyseal stippling, ... OMIM:270400
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Hypocalcemic seizures, Rickets, Metaphyseal irregularity, Hypophosphatemia, Delaye... OMIM:277440
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Patent ductus arteriosus, Hypoplasia of the radius, ... OMIM:147750
Isolated Anencephaly
Maternal diabetes, Thymus hyperplasia, Intrauterine growth retardation, Cleft lip, Adrenal hypopl... ORPHA:563609
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 level, Inappropriately normal thyroid-stimu... OMIM:301033
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapu... ORPHA:98848
Gitelman Syndrome
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... ORPHA:358
Wilson Disease
Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Dysphagia, Aminoaciduria, Esophageal varix, H... OMIM:277900
Laron Syndrome
Micrognathia, Hypoglycemia, Microdontia, Abnormality of the endocrine system, Truncal obesity, De... ORPHA:633
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Hemochromatosis, Type 2A
Increased serum iron, Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Arthri... OMIM:602390
Porphyria Cutanea Tarda
Increased serum iron, Increased fecal porphyrin, Elevated hepatic iron concentration, Hepatocellu... ORPHA:101330
Isolated Agammaglobulinemia
Sinusitis, Sepsis, Short stature, Clinodactyly of the 5th toe, Recurrent respiratory infections, ... ORPHA:229717