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Gene: Il10 MGI:96537

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Il10 (3 diseases)
Human diseases predicted to be associated with Il10 (1750 diseases)

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

Disease	Matching phenotypes	Source
Rheumatoid Arthritis	Vasculitis, Rheumatoid arthritis, Weight loss, Arthralgia, Fatigue, Elevated circulating C-reacti...	OMIM:180300
Behçet Disease	Nausea and vomiting, Mitral regurgitation, Weight loss, Arthralgia, Ataxia, Anorexia, Abdominal p...	ORPHA:117
Systemic Lupus Erythematosus	Discoid lupus rash, Cheilitis, Leukopenia, Malar rash, Hypertension, Decreased circulating comple...	ORPHA:536

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

Disease	Matching phenotypes	Source
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	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
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain	OMIM:191390
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in...	OMIM:614372
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti...	OMIM:613860
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Hyp...	ORPHA:98813
Immunodeficiency 115 With Autoinflammation	Recurrent viral infections, Postnatal growth retardation, Superficial dermal perivascular inflamm...	OMIM:620632
Refractory Celiac Disease	Inflammatory abnormality of the skin, Microcytic anemia, Hypophosphatemia, Weight loss, Abdominal...	ORPHA:398063
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz...	OMIM:613953
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Mucoid d...	OMIM:615767
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ...	OMIM:612567
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A...	ORPHA:37042
Celiac Disease, Susceptibility To, 1	Diarrhea, Postnatal growth retardation, Weight loss, Abdominal distention, Abdominal pain, Celiac...	OMIM:212750
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Carious teeth, Increased circulating ferritin...	OMIM:620603
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 circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn...	OMIM:618204
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Mandibular prognathia, Microcytic anemia, Hepatosplenomegaly, Mitral regurgi...	OMIM:619750
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrh...	OMIM:616050
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Recurrent viral infections, Increased circulating IgE...	OMIM:620532
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Bloody diarrhea, Chronic constipation, Epi...	ORPHA:209964
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity	ORPHA:88643
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat...	ORPHA:319552
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Intestinal obstruction, Abnormal intestine morphology, Hepatomegaly, Recurrent lower re...	OMIM:226300
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple...	OMIM:608971
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
5-Oxoprolinase Deficiency	Abdominal pain, Vomiting, Diarrhea, Enterocolitis	OMIM:260005
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Chronic tinea infection, Increased circulating IgE leve...	OMIM:212050
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Alg12-Cdg	Recurrent hypoglycemia, Overlapping fingers, Micrognathia, Abnormal circulating IgG level, Crypto...	ORPHA:79324
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Postnatal growth retardation, ...	ORPHA:289157
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunodeficiency 70	Verrucae, Decreased circulating total IgG, Chronic fatigue, Recurrent sinusitis, Colitis, Achalas...	OMIM:618969
Progeria-Short Stature-Pigmented Nevi Syndrome	Recurrent viral infections, Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia,...	ORPHA:2959
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,...	OMIM:618944
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ...	ORPHA:443811
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast...	OMIM:605258
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Reduced natural killer cell ...	ORPHA:540
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcin...	OMIM:174900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ...	OMIM:243700
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo...	OMIM:619013
Gastroesophageal Reflux	Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm	OMIM:109350
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Hereditary Mixed Polyposis Syndrome	Hematochezia, Colon cancer, Adenomatous colonic polyposis, Thyroid carcinoma, Duodenal adenocarci...	ORPHA:157794
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegal...	OMIM:209950
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Vomiting, Toe syndactyly, Elbow flexion contracture, Clinodactyly of the 5th finger, ...	OMIM:616809
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl...	OMIM:613494
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Malar rash, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Spleno...	OMIM:603909
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Hip dislocation, Keratitis, Eczematoid dermatitis, Increased circu...	OMIM:618523
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Pancy...	OMIM:614576
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Verrucae, Recurrent viral infections, Recurrent respiratory infecti...	ORPHA:217390
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Erlenmeyer flask deformity of the femurs, Hypocholesterolemia, Hypersplenism, Splenom...	OMIM:610539
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Increased circulating IgE level, Erythroderma, Glomerulonephritis, Neutropenia, Autoimmune thromb...	OMIM:304790
Peutz-Jeghers Syndrome	Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ...	ORPHA:2869
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased...	OMIM:606367
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly...	OMIM:619164
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l...	ORPHA:436159
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Cirrhosis, H...	ORPHA:264580
Neuroendocrine Neoplasm Of Appendix	Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Appendiceal mucinous n...	ORPHA:100079
Niemann-Pick Disease, Type A	Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspa...	OMIM:257200
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased prop...	ORPHA:3261
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Diarrhea, Inflammatory abnormality of the skin, Recurrent pneumo...	ORPHA:277
Pseudomyxoma Peritonei	Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, W...	ORPHA:26790
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Increased circulating interleukin 8 concentration, Finger swelling, Microcy...	OMIM:256040
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Osteomalacia, Recu...	OMIM:619381
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Mismatch Repair Cancer Syndrome 1	Basal cell carcinoma, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, Medullo...	OMIM:276300
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy, Hepatic...	OMIM:618805
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro...	OMIM:608957
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Failure to thrive, Increased circulating ferritin concentration, Microcytic a...	OMIM:600462
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Recurrent otitis media, Micrognathia, Sterile abscess, High pala...	OMIM:618282
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	ORPHA:444463
Juvenile Polyposis Of Infancy	Hypoalbuminemia, High, narrow palate, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrhage,...	ORPHA:79076
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy, Recurrent pneumonia, Decreased circulating IgG level, Recurrent otiti...	OMIM:613502
Immunodeficiency 23	Allergic rhinitis, Increased circulating IgE level, Lymphopenia, Molluscum contagiosum, Abscess, ...	OMIM:615816
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Reduce...	OMIM:619281
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Weight loss, Abdominal pain, Hypoproteinemia, Opportunistic inf...	ORPHA:90362
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Carious teeth, Hypopituitarism, Pancytopenia, Increa...	ORPHA:811
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis	ORPHA:401911
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Vasculitis, Inflammation of the large intestine, Craniofacial osteosclerosis, Abnormal epiphysis ...	ORPHA:324964
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye...	ORPHA:1163
Acquired Idiopathic Sideroblastic Anemia	Hypochromic anemia, Pancytopenia, Chronic infection, Anemia of inadequate production, Acute myelo...	ORPHA:75564
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Recurrent viral infections, Increased circulating IgE level, I...	OMIM:620565
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Eczematoid dermatitis, Increased circulating IgE level, Decreased prop...	OMIM:617241
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial i...	OMIM:613501
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent...	OMIM:607594
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL ch...	ORPHA:470
Immunodeficiency 37	Colitis, Recurrent infections, Decreased circulating antibody level, Infectious encephalitis	OMIM:616098
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Diarrhea, Recurrent hypoglycemia, Postnatal growth retardation, Polycystic ovaries, Increased bod...	ORPHA:79240
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha...	OMIM:147060
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum...	OMIM:618806
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph...	OMIM:617006
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Sickle Cell Anemia	Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Fi...	ORPHA:232
Immunodeficiency 32B	Pneumonia, Hypoalbuminemia, Failure to thrive, Recurrent respiratory infections, BCGitis, Impaire...	OMIM:226990
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liv...	OMIM:608104
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos...	OMIM:618534
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Esophagitis, Eosinophilic, 2	Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Esophagitis, Dysphagia, Failure to thrive	OMIM:610247
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski...	OMIM:603552
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Pes planus, Recurrent pharyngitis...	ORPHA:168569
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,...	OMIM:608106
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune h...	OMIM:601859
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t...	OMIM:618108
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Carious teeth, Xanthelasma, Hepatic...	ORPHA:79259
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d...	OMIM:619752
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat...	ORPHA:158061
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Cachexia, Weight loss, Cirrhosis, Abdominal distention, Abdominal pain, Macrovesicular ...	ORPHA:298
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula...	ORPHA:391487
Congenital Disorder Of Glycosylation, Type Ia	Diarrhea, Hepatic steatosis, Feeding difficulties in infancy, Hepatomegaly, Osteopenia, Villous a...	OMIM:212065
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,...	ORPHA:220460
Wolcott-Rallison Syndrome	Acute hepatic failure, Hyperbilirubinemia, Decreased body weight, Neutropenia, Metaphyseal dyspla...	ORPHA:1667
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Weight loss, Hepatomegaly...	ORPHA:465508
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail...	OMIM:278000
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnut...	ORPHA:2494
Complement Factor B Deficiency	Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis	OMIM:615561
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ...	ORPHA:2902
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoi...	OMIM:619220
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Gastroesophageal reflux, Failure to thrive, Microcytic anemia, Elevated circulatin...	OMIM:612073
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Punctate Palmoplantar Keratoderma Type 1	Basal cell carcinoma, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Pain, Esophagea...	ORPHA:79501
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o...	ORPHA:911
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Recurrent viral infections, Cholestasis, Lymphopenia, D...	OMIM:619573
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Recurrent cutaneous abscess for...	OMIM:618131
Eosinophilic Gastroenteritis	Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Atopic dermatiti...	ORPHA:2070
Hepatoportal Sclerosis	Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Intra...	ORPHA:64743
Sepsis In Premature Infants	Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Hepatomegaly, Elevated circul...	ORPHA:90051
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Bloody diarrhea, Acute colitis, Elevated circulating creatinine concentration...	ORPHA:90038
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade...	ORPHA:447877
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine	ORPHA:46487
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Eczematoid dermatitis, Lymphoma, Recurrent respiratory infections, Increased circulat...	ORPHA:2314
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia...	ORPHA:124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diarrhea, Inflammatory abnormality of the skin, Recurrent viral infections, Increased circulating...	OMIM:102700
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta...	ORPHA:247798
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Recurrent otitis media, Overlapping toe, Protruding tongue, Neutrophilia, Hepa...	ORPHA:99843
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Alg6-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Increased circulating androgen concentration, Failur...	ORPHA:79320
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ...	ORPHA:275
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Clinodactyly, Failure to thri...	OMIM:618048
Mucopolysaccharidosis-Plus Syndrome	Neutropenia, Hepatomegaly, Macrovesicular hepatic steatosis, Clubbing, Patent ductus arteriosus, ...	OMIM:617303
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis,...	OMIM:611762
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest...	ORPHA:90363
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir...	OMIM:300400
Radiation Proctitis	Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ...	ORPHA:70475
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatic failure, Diarrhea, Rickets, Intrahepatic cholestasis, Elevated circ...	OMIM:607765
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple...	ORPHA:2930
Immunodeficiency 19	Recurrent otitis media, Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer ce...	OMIM:615617
Cog4-Cdg	Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra...	ORPHA:263501
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Autoimmune Hepatitis	Inflammation of the large intestine, Gastrointestinal hemorrhage, Spider hemangioma, Increased to...	ORPHA:2137
Majeed Syndrome	Metaphyseal irregularity, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis,...	ORPHA:77297
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Colon cancer, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hodgkin lym...	ORPHA:158057
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Skin rash, Viscer...	ORPHA:1059
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Failure to thr...	OMIM:256500
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato...	OMIM:609628
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased circulating carnitine concentration, Abnormal circulating selenium concentration, Cario...	ORPHA:89842
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia, Congestive heart failure	OMIM:209300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells...	ORPHA:276
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Reduced natural killer cell act...	OMIM:603553
Sweet Syndrome	Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Chronic lympha...	ORPHA:3243
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Temple Syndrome	Small hand, Clinodactyly, Recurrent otitis media, Micrognathia, Cryptorchidism, High palate, Shor...	OMIM:616222
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ...	OMIM:301000
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative...	OMIM:613779
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczematoid dermatitis, Increased circulating IgE level, Postnatal growth retardation, Decreased s...	OMIM:618985
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir...	OMIM:620376
Ganglioneuroma	Gastrointestinal hemorrhage, Abnormal rectum morphology, Ganglioneuroma, Hypertension, Episodic a...	ORPHA:251992
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide...	ORPHA:70593
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Inflammation of the large intestine, Lymphadenitis, Cholestasis, Erythroderma, Hepatomegaly, Abdo...	OMIM:615895
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Vomiting, Increased circulating lactate dehydrogenase concentration, Eczemat...	OMIM:617780
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small hand, Clinodactyly, Recurrent otitis media, Postnatal growth retardation, Micrognathia, Cry...	ORPHA:96184
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Recurrent oti...	ORPHA:254531
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk...	OMIM:618213
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut...	OMIM:301082
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Joint hypermobility, Decreased body ...	OMIM:607906
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Hyp...	OMIM:232220
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Short toe, Failure to thrive, Microcytic anemia, Retrognathia, Micrognathia, Cryp...	ORPHA:98791
Secondary Short Bowel Syndrome	Vomiting, Diarrhea, Volvulus, Failure to thrive, Malnutrition, Malabsorption, Villous atrophy, Ab...	ORPHA:95427
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Abnormal blood...	ORPHA:810
Immunodeficiency 25	Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Recurrent candida infe...	OMIM:610163
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Hyperbilirub...	ORPHA:247598
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Talipes equinovarus, Cirrhosis, Hepatomega...	ORPHA:14
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Failure to thri...	OMIM:615863
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Immunodeficiency 13	Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop...	OMIM:615518
Proteus-Like Syndrome	Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, L...	ORPHA:2969
Late-Onset Isolated Acth Deficiency	Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Abdominal pain, Celiac ...	ORPHA:199299
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Increas...	ORPHA:77259
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub...	OMIM:613658
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Conjunctivitis, Recurrent otitis ...	OMIM:240500
Aicardi-Goutieres Syndrome 9	Hepatosplenomegaly, Chilblains, Hepatic steatosis, Weight loss, Hepatomegaly, Hypothyroidism, Ane...	OMIM:619487
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Joi...	OMIM:620210
Wolman Disease	Hepatic failure, Malnutrition, Adrenal calcification, Adrenal insufficiency, Nausea and vomiting,...	ORPHA:75233
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Severe varicella zoster infection, Failure to thrive, Lymphoma,...	ORPHA:397596
Trichohepatoenteric Syndrome 2	Diarrhea, Small for gestational age, Failure to thrive, Villous atrophy, Chronic hepatitis, Colit...	OMIM:614602
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Recurrent respiratory infections, Failure to thrive, Lymphopenia, Leukopenia, Mala...	OMIM:615934
Autosomal Dominant Spastic Paraplegia Type 29	Impaired vibratory sensation, Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia, Impa...	ORPHA:101009
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,...	ORPHA:69126
Whipple Disease	Diarrhea, Cachexia, Anorexia, Hepatomegaly, Abdominal pain, Pedal edema, Gastrointestinal hemorrh...	ORPHA:3452
Syndromic Diarrhea	Lymphopenia, Colitis, Hepatoblastoma, Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Aortic r...	ORPHA:84064
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Severe varicella zoster infection, Eosinophilic granul...	OMIM:616433
Congenital Disorder Of Glycosylation, Type Iq	Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Failure to thrive...	OMIM:612379
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder, Absent leuko...	OMIM:242880
Alg1-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Sepsis, Limitation of joint mobility, Decreased live...	ORPHA:79327
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa...	OMIM:308230
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Bifid uvula, Broad thumb, Broad hallux, Insulin-resistant diabetes mellitus, Microcytic anemia, D...	ORPHA:293967
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Osteopenia, Carious teeth, Failure to thrive, Malnutrition, Exocrine pancreati...	OMIM:612714
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Immunodeficiency 27B	Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl...	OMIM:615978
Hjv Or Hamp-Related Hemochromatosis	Abnormality of iron homeostasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminas...	ORPHA:79230
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Diarrhea, Lymphopenia, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respiratory tract i...	OMIM:616100
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Diarrhea, Elevated circulating hepatic transaminase concentration, Protracted di...	ORPHA:67
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Diarrhea, Malnutrition, Hypocholesterolemia, Postnatal growth retardati...	ORPHA:96180
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Villous atrophy, Splenomegaly, Hepatomeg...	OMIM:608776
Bacterial Toxic-Shock Syndrome	Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections, Me...	ORPHA:36234
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal ...	OMIM:618852
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Wilson Disease	Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhos...	OMIM:277900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit...	OMIM:175500
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Abnormal circ...	ORPHA:79278
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ...	OMIM:300636
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Trichohepatoenteric Syndrome 1	Cholestasis, Large placenta, Cirrhosis, Hepatomegaly, Jaundice, Aortic regurgitation, Avascular n...	OMIM:222470
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:602450
Congenital Generalized Lipodystrophy	Insulin resistance, Mandibular prognathia, Precocious puberty in females, Failure to thrive, Cong...	ORPHA:528
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Protein-losing enteropathy, Erysipelas, Intestinal lymphangiectasia, Mild postna...	OMIM:235510
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Microcytic anemia, Ankyloglossia, Recurrent otitis medi...	OMIM:619525
X-Linked Agammaglobulinemia	Weight loss, Neutropenia, Meningitis, Recurrent cutaneous abscess formation, Chronic otitis media...	ORPHA:47
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega...	OMIM:607616
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Hepatosplenome...	ORPHA:3260
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Carious teeth, Abnormal circulating selenium concentration, Anal fissure, Ankyloglossia, Glomerul...	ORPHA:79408
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Micrognathia,...	OMIM:259720
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Arthralg...	OMIM:614878
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Vasculitis, Failure to th...	OMIM:617718
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Adrenal calcification, Nausea and vomiting, Splenomegaly, Cirrhosis, H...	ORPHA:75234
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces...	ORPHA:411696
Congenital Disorder Of Glycosylation, Type Ig	Short tibia, Cryptorchidism, Talipes equinovarus, Patent ductus arteriosus, Hypocalcemia, Decreas...	OMIM:607143
Lysosomal Acid Lipase Deficiency	Diarrhea, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Xanthela...	ORPHA:275761
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato...	OMIM:606069
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti...	OMIM:613960
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M...	ORPHA:231401
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio...	ORPHA:440713
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria...	OMIM:193670
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Vomiting, Diarrhea, Elevated circulating hepatic transaminase concentration, Decreased liver func...	ORPHA:42
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Chronic infection, Palpitations, L...	ORPHA:86839
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Diarrhea, Failure to thrive, Recurrent urinary tract infections, Recurren...	OMIM:618495
Degcags Syndrome	Toe syndactyly, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Hyperbi...	OMIM:619488
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Hypoglycemia, Recurrent urinary tra...	OMIM:612783
Graft Versus Host Disease	Diarrhea, Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Weight loss...	ORPHA:98849
Solitary Fibrous Tumor	Uterine neoplasm, Genital neoplasm, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Neopl...	ORPHA:2126
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Laryngeal papilloma, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomeg...	OMIM:617388
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Increased circulating cortisol level, Chronic infection, Hepatic steat...	ORPHA:139507
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Aggressive Systemic Mastocytosis	Diarrhea, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Elevated circulating alkaline phosphat...	ORPHA:98850
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve...	ORPHA:99826
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Growth delay, Failure to thrive, Hypocystinemia, Decreased circulating IgA l...	OMIM:617744
Restrictive Dermopathy 2	Gastroesophageal reflux, Rectal prolapse, Feeding difficulties	OMIM:619793
Rothmund-Thomson Syndrome Type 1	Neoplasm of the skin, Diarrhea, Aplastic anemia, Carious teeth, Cryptorchidism, Patellar aplasia,...	ORPHA:221008
Rothmund-Thomson Syndrome Type 2	Neoplasm of the skin, Diarrhea, Aplastic anemia, Carious teeth, Cryptorchidism, Patellar aplasia,...	ORPHA:221016
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Elevated circulating alkaline pho...	ORPHA:85443
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neopl...	ORPHA:99867
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Celiac ...	ORPHA:183675
Alpha-Heavy Chain Disease	Lymphoma, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Hypocalcemia, Dysgamm...	ORPHA:100025
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia, Palmoplantar keratoderma, Failure to thrive, Increased circulatin...	OMIM:615508
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis	OMIM:620425
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Sepsis, Palmoplantar keratoderma, Smooth tongue, Failure to thrive, Squamous cel...	ORPHA:79396
Schnitzler Syndrome	Vasculitis, Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthr...	ORPHA:37748
Plummer-Vinson Syndrome	Decreased circulating ferritin concentration, Iron deficiency anemia, Esophageal web, Dysphagia, ...	ORPHA:54028
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia, Micrognathia, Mitral regurgitation, Cryptorchidism, Hypopa...	OMIM:611174
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Too...	ORPHA:89937
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Chylomicron Retention Disease	Hypoalbuminemia, Vomiting, Diarrhea, Hypotriglyceridemia, Failure to thrive, Malnutrition, Hypoch...	OMIM:246700
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Lower limb asymmetry, Congestive heart failure, ...	ORPHA:90308
Dubowitz Syndrome	Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Postnatal growth retardation, Micro...	OMIM:223370
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Postnatal growth retardation, Hy...	ORPHA:79303
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Myalgia, Increased circulating antibod...	ORPHA:48104
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception	OMIM:112200
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint...	OMIM:608184
Mpi-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hep...	ORPHA:79319
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Congestive heart failure, Decreased HDL cholesterol concentration, Increased ...	OMIM:615703
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Analbuminemia	Hypoalbuminemia, Hypotension, Elevated circulating transferrin concentration, Increased LDL chole...	OMIM:616000
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Multiple Myeloma	Osteopenia, Pathologic fracture, Functional abnormality of the gastrointestinal tract, Elevated c...	ORPHA:29073
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepat...	ORPHA:100075
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Normochromic microcytic anem...	OMIM:610198
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Diarrhea, Chronic mucocutaneous candidiasis, Recurrent protozoan infe...	ORPHA:572
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Malar f...	OMIM:266510
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Pes cavus, Elevated circulating creatine kinase concentration, Hypothyroidism,...	OMIM:251900
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Cyclic Neutropenia	Sepsis, Periodontitis, Recurrent tonsillitis, Opportunistic infection, Cervical lymphadenopathy, ...	ORPHA:2686
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Ankle swelling, Acute monocytic leukemia, Central hypothyroidism, Increased c...	ORPHA:514
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Diarrhea, Vomiting, Hepatitis, Elevated circulating hepatic...	ORPHA:454836
Acatalasemia	Type I diabetes mellitus, Neoplasm of the larynx, Microcytic anemia, Type II diabetes mellitus, R...	ORPHA:926
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l...	OMIM:616069
Rothmund-Thomson Syndrome	Neoplasm of the skin, Diarrhea, Aplastic anemia, Carious teeth, Aplasia/Hypoplasia of the patella...	ORPHA:2909
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Potocki-Lupski Syndrome	Gastroesophageal reflux, Dental malocclusion, Failure to thrive, Oral-pharyngeal dysphagia, Hypoc...	OMIM:610883
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Recurrent otitis media, Talipes calcaneovalgus, Overlapping toe, Faci...	OMIM:270400
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid dermatitis, Recur...	ORPHA:83471
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Membranoproliferative glomerulonephritis, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Somatostatinoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97283
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia	OMIM:300299
Aredyld Syndrome	Craniofacial hyperostosis, Type I diabetes mellitus, Abnormal pelvic girdle bone morphology, Mand...	ORPHA:1133
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Sepsis, Congestive hear...	ORPHA:247353
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Decrease...	OMIM:616873
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi...	ORPHA:75563
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Hepatic fibrosi...	OMIM:602579
Zygomycosis	Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Abdo...	ORPHA:73263
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi...	OMIM:619858
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts	OMIM:182170
Proteus Syndrome	Rib exostoses, Carious teeth, Finger syndactyly, Exostosis of the external auditory canal, Cachex...	ORPHA:744
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati...	OMIM:618935
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Ileus, Nausea and vomiting, Hepatomegaly, Cachexia, Weight loss, Lym...	ORPHA:83469
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Colit...	OMIM:615190
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Meningitis, Hyperkalemia, Intestinal perforation, Abnormal circulating ...	ORPHA:544482
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent bacterial infections,...	OMIM:606843
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Anorexia...	ORPHA:824
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Hypotension, Sepsis, Hepatitis, Cardiomyopathy, Cholestasis, Le...	ORPHA:292
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia, Hypertension, Myocardial infarction, Diabetes mellitus	OMIM:608320
Diarrhea 13	Hypoalbuminemia, Vomiting, Secretory diarrhea, Elevated circulating hepatic transaminase concentr...	OMIM:620357
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ...	OMIM:612260
Renpenning Syndrome	High, narrow palate, Severe short stature, Mandibular prognathia, Growth delay, Decreased testicu...	ORPHA:3242
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transamina...	ORPHA:367
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Addison Disease	Diarrhea, Adrenal calcification, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, ...	ORPHA:85138
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention, Failure to thrive, Osteomyelitis, Hepatomegaly, Elevated circulating C-reac...	OMIM:619423
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti...	ORPHA:48435
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo...	OMIM:613662
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Mitral regurgitation, Tachycardia, Patent ductus arteriosus, Hypertrophic car...	ORPHA:505248
Congenital Disorder Of Glycosylation, Type Iit	Small hand, Hypotriglyceridemia, Sandal gap, Iron deficiency anemia, Pineal cyst, Constipation, D...	OMIM:618885
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis, Chronic sinusitis, Otitis media	OMIM:300455
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Bloody diarrhea, Neoplasm of t...	OMIM:175200
Boutonneuse Fever	Vasculitis, Diarrhea, Elevated circulating hepatic transaminase concentration, Abnormality of the...	ORPHA:83313
Cystic Fibrosis	Recurrent pneumonia, Diarrhea, Bronchiectasis, Exocrine pancreatic insufficiency, Ileus, Rectal p...	OMIM:219700
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Hepatic steatosis, Hepatomegaly, Tachycardia, Dysphagia, Osteopenia, Hypertrigl...	OMIM:613327
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu...	OMIM:620189
Hyperinsulinemic Hypoglycemia, Familial, 8	Growth delay, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyper...	OMIM:620211
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Mevalonic Aciduria	Diarrhea, Morbilliform rash, Hepatosplenomegaly, Fluctuating hepatomegaly, Elevated circulating C...	OMIM:610377
Vascular Malformation, Primary Intraosseous	Hypochromic anemia, Ectopic tooth eruption, Elevated circulating alkaline phosphatase concentrati...	OMIM:606893
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancreatic hypoplasi...	ORPHA:552
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame...	OMIM:617021
Hereditary Amyloidosis With Primary Renal Involvement	Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Weight loss...	ORPHA:85450
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Barth Syndrome	Mandibular prognathia, Dilated cardiomyopathy, Recurrent infections in infancy and early childhoo...	OMIM:302060
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficien...	ORPHA:309031
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Vomiting, Diarrhea, Elevated circulating hepatic transaminase ...	ORPHA:247585
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Morgagni-Stewart-Morel Syndrome	Acne, Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hypothyroidism, Hypercholesterole...	ORPHA:77296
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Cryptorchidism, Ane...	ORPHA:67044
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Dental malocclusion, Increased circulating IgE level, Hypoplastic...	ORPHA:1858
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre...	OMIM:613752
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Fractured radius, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular d...	OMIM:616897
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Complement Component 5 Deficiency	Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease, Generaliz...	OMIM:609536
Chylomicron Retention Disease	Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Failure to thrive, G...	ORPHA:71
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypertension, Hypoalbuminemia	OMIM:603278
Immunodeficiency 31C	Diarrhea, Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Weight loss, H...	OMIM:614162
Srd5A3-Cdg	Elevated circulating hepatic transaminase concentration, Palmoplantar keratoderma, Microcytic ane...	ORPHA:324737
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,...	OMIM:300755
Ileal Neuroendocrine Tumor	Increased serum serotonin, Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal ...	ORPHA:100078
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia, Anemia, Short stature	ORPHA:3319
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Abnormal hip bone morphology, Arachnodactyly, High palate, Short stature, Abn...	ORPHA:2720
Preeclampsia	Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Elevated circulating he...	ORPHA:275555
Idiopathic Achalasia	Gastroesophageal reflux, Malnutrition, Decreased circulating prealbumin concentration, Weight los...	ORPHA:930
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Hepato...	OMIM:231100
Schwartz-Jampel Syndrome	Micrognathia, Genu valgum, Hip contracture, Decreased body weight, Bowing of the long bones, Tali...	ORPHA:800
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea...	OMIM:612301
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Gastroesophageal reflux, Decreased circulating carnitine concentration, Hypertrophic cardiomyopat...	OMIM:201475
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Decreased circulating free T4 concentration, Constipation, Hypercholester...	OMIM:301033
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Fibular bowing, Elevated circulating alkaline phosphatase concen...	OMIM:264700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Diarrhea, Recurrent enteroviral infections, Septic arthritis, Conjunctivitis, Enterovi...	OMIM:307200
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration, ...	OMIM:300752
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hyperchole...	OMIM:612526
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Abnormality of the sphenoid sinus, Prostatitis, Abnormality of t...	ORPHA:449563
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Lymphopenia, Decreased cir...	ORPHA:331206
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal lymphocyte ph...	ORPHA:1830
Junctional Epidermolysis Bullosa Inversa	Gastrointestinal inflammation	ORPHA:79405
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr...	ORPHA:2688
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Reduced circulating complement concen...	ORPHA:79237
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia, Feeding difficulties	OMIM:618451
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Abnormality of the gastrointestinal tract, Weight loss, Lymphadeno...	ORPHA:52416
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Pancytopenia, Hepatosplenomegaly...	OMIM:615122
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Elevated circulating alkaline pho...	OMIM:277440
Bloom Syndrome	Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Micrognathia, Abscess, Severe toxopl...	ORPHA:125
Ogden Syndrome	Diarrhea, Recurrent otitis media, Torsade de pointes, Postnatal growth retardation, Hyperbilirubi...	OMIM:300855
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Failure to thrive, Bloody diarrhea, Increased circulating IgE level, Villous atrophy...	OMIM:614328
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Increased HDL cholesterol concentration, Right ventricular f...	ORPHA:70591
Reticular Dysgenesis	Diarrhea, Sepsis, Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Failure to ...	ORPHA:33355
Methylcobalamin Deficiency Type Cble	Vomiting, Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Postnatal growth re...	ORPHA:2169
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased response to growth hormone stimulation test, Intrauterine growth retar...	OMIM:618347
Neutropenia, Chronic Familial	Periodontitis, Increased circulating antibody level, Neutropenia, Clubbing, Clubbing of fingers	OMIM:162700
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Gastroesophageal reflux, Failure to thrive, Elevated circulating propionylcarniti...	OMIM:614857
Thrombotic Thrombocytopenic Purpura	Diarrhea, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenase concentra...	ORPHA:54057
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Splenomegaly, Leuk...	OMIM:618042
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Delayed eruption of primary teeth, Feeding difficulties in infancy,...	ORPHA:819
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Palmoplantar keratoderma, Abnormal circulating lipid concentration, Joi...	ORPHA:1979
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentr...	ORPHA:369
Christianson Syndrome	Mandibular prognathia, Gastroesophageal reflux, Joint hypermobility, Feeding difficulties in infa...	ORPHA:85278
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Abnormal circulating creatine kinase concentration, Palpitations, Pes cav...	ORPHA:488650
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration...	ORPHA:90041
Oculocerebrorenal Syndrome Of Lowe	Neoplasm of the skin, Carious teeth, Periodontitis, Osteomalacia, Micrognathia, Genu valgum, Cryp...	ORPHA:534
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hyperbilirubinemia, Hepatic steatosis, Feeding difficult...	OMIM:251880
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Hypogl...	OMIM:617872
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Gastroesophageal reflux, Hyperparathyroidism, Metaphyseal spurs, Umbil...	OMIM:618188
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Increased circulating lactate dehyd...	OMIM:210250
Felty Syndrome	Limitation of joint mobility, Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatom...	ORPHA:47612
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Ivic Syndrome	Carpal synostosis, Limited elbow movement, Radioulnar synostosis, Carpal bone hypoplasia, Limited...	OMIM:147750
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Membranous nephropathy, Eosinophilic ...	OMIM:618999
Dermatitis Herpetiformis	Dental enamel pits, Eczematoid dermatitis, Delayed eruption of teeth, Microcytic anemia, Malabsor...	ORPHA:1656
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Ring Chromosome 10 Syndrome	Sandal gap, Intrauterine growth retardation, Micrognathia, Hypocalcemia, Aganglionic megacolon, C...	ORPHA:1438
Gitelman Syndrome	Diarrhea, Nausea and vomiting, Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial...	ORPHA:358
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,...	ORPHA:98848
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Deviation of finger, Microcytic anemia, Gastrointestinal ...	ORPHA:903
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Isolated Anencephaly	Intrauterine growth retardation, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Neoplasm of the la...	ORPHA:100083
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Chronic fatigue, Neoplasm of the skeletal system, Neoplasm of...	ORPHA:424016
Omenn Syndrome	Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Hepatomega...	OMIM:603554
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Gastroesophageal reflux, Growth delay, Hyperlipidemia, Hypothyroidism, Abdominal...	OMIM:256300
Cystic Echinococcosis	Peritoneal abscess, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Abscess, Ovaria...	ORPHA:400
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Intraut...	ORPHA:99886
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Failure to thrive in infancy, Intrauterine growth retardation, Hip contracture, Cache...	OMIM:616801
Relapsing Fever	Epistaxis, Hypotension, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentrati...	ORPHA:91547
Laron Syndrome	Severe short stature, Short toe, Hypoglycemia, Delayed eruption of teeth, Micrognathia, Hyperchol...	ORPHA:633
Angiostrongyliasis	Unusual CNS infection, Vomiting, Stiff neck, Hypereosinophilia, Increased circulating specific Ig...	ORPHA:74
Subacute Inflammatory Demyelinating Polyneuropathy	Absent patellar reflexes, Limited elbow flexion, Limited hip movement, Limitation of movement at ...	ORPHA:206594
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero...	OMIM:619855
Camurati-Engelmann Disease	Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgu...	ORPHA:1328
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Growth delay, Failure to thrive, Hypertr...	OMIM:613561
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Increased circulating prolactin concentration, Decreased circulating...	ORPHA:90674
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration	ORPHA:2843
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Prader-Willi Syndrome	Small hand, Carious teeth, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus...	OMIM:176270
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Elevated circula...	ORPHA:66634
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis...	OMIM:601495
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia, Failure to thrive	OMIM:618811
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nipple, Increased circulating IgE l...	ORPHA:373
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Leprechaunism	Megarectum, Failure to thrive, Hypertrophic cardiomyopathy, Postnatal growth retardation, Decreas...	ORPHA:508
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Osteopenia, Diarrhea, Rickets, Cholelithiasis, Failure to thrive, Splenomegaly, Cirrho...	OMIM:211600
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Chronic mucocutaneous candidiasis, Hepatitis, Exocrine pancreatic insufficiency, Primary...	OMIM:269200
Atelosteogenesis Type I	Rhizomelia, Short femur, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equ...	ORPHA:1190
Smith-Magenis Syndrome	Velopharyngeal insufficiency, Abnormality of the thyroid gland, Malar flattening, Increased body ...	OMIM:182290
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Pes cavus, Hypercholesterolemia, Distal lower limb muscle weakness	ORPHA:94124
Acquired Von Willebrand Syndrome	Normocytic anemia, Aortic valve stenosis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic...	ORPHA:99147
Mirage Syndrome	Aspiration pneumonia, Radial club hand, Lymphopenia, Overlapping fingers, Cryptorchidism, Decreas...	OMIM:617053
Foxp1 Syndrome	Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Mandibula...	ORPHA:391372
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Vomiting, Diarrhea, Increased circulating ferritin concentration, Thrombocytop...	ORPHA:3240
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Micrognathia, Postnatal gro...	OMIM:248370
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Tick-Borne Encephalitis	Unusual CNS infection, Myelitis, Vomiting, Elevated circulating hepatic transaminase concentratio...	ORPHA:297
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Palmoplantar hyperhidrosis, Erythroderma, Short st...	OMIM:270300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Recurrent enteroviral infections, Recurrent vir...	ORPHA:79124
Cartilage-Hair Hypoplasia	Hypoplasia of the odontoid process, Absent pubertal growth spurt, Lymphopenia, Neutropenia, Metap...	OMIM:250250
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts, Di...	OMIM:600121
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye...	OMIM:260400
Fanconi-Bickel Syndrome	Elevated circulating alkaline phosphatase concentration, Bowing of the long bones, Hypophosphatem...	ORPHA:2088
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop...	OMIM:615387
Osteogenesis Imperfecta, Type X	Osteopenia, Recurrent pneumonia, Rhizomelia, Dentinogenesis imperfecta, Micromelia, Micrognathia,...	OMIM:613848
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Weight loss, Abdominal pain, Multiple myeloma, Vasculitis, Gastrointe...	ORPHA:91139
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Abnormality of the...	ORPHA:249
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Short thumb, Recurrent otitis media, Intrauterine ...	OMIM:612562
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Recurrent upper respiratory tract infe...	OMIM:618183
Autoimmune Polyendocrinopathy Type 4	Rheumatoid arthritis, Xerostomia, Iridocyclitis, Tubulointerstitial nephritis, Celiac disease, Au...	ORPHA:227990
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Contractures of the large joints...	ORPHA:2457
Roifman Syndrome	Epiphyseal dysplasia, Recurrent pneumonia, Eczematoid dermatitis, Short toe, Recurrent otitis med...	ORPHA:353298
Cystic Fibrosis	Gastroesophageal reflux, Bronchiectasis, Decreased body mass index, Meconium ileus, Failure to th...	ORPHA:586
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Decreased circulating IgA level, Psoriasiform dermatitis, Decrea...	OMIM:617765
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Enamel hypomineralization, Elevate...	OMIM:307800
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg...	OMIM:620010
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Congenital contracture, Thymus hyperplasia, Micrognathia, Arachnodactyly, Talipes equinovarus, Fe...	OMIM:619036
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le...	ORPHA:169160
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo...	ORPHA:564003
Prolidase Deficiency	Recurrent infections, Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated cir...	OMIM:170100
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Finger swelling, Failure to thrive, Lymp...	OMIM:617591
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Bannayan-Riley-Ruvalcaba Syndrome	Broad thumb, Micrognathia, Telangiectasia, Cachexia, Visceral angiomatosis, Abnormal large intest...	ORPHA:109
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Membranoproliferative glomerulonephritis, Decreased circulating complement C3 co...	ORPHA:54370
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa...	OMIM:301220
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Mediastinal lymphadenopathy, Pancy...	OMIM:181000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Pes cavus, Hypercholesterolemia	OMIM:607250
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated...	OMIM:615688
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia...	ORPHA:227982
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233710
Cholestasis-Lymphedema Syndrome	Erysipelas, Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatome...	OMIM:214900
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Fai...	ORPHA:88618
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Abnormal metacarpal morphology, Erythema n...	ORPHA:228123
Dubowitz Syndrome	Recurrent infections, Anal stenosis, Eczematoid dermatitis, Lymphoma, Postnatal growth retardatio...	ORPHA:235
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Epistaxis, Brain abscess, Gastrointestinal infarctions, Pulmonary hemorrh...	ORPHA:2038
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level, Plantar hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:144200
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi...	ORPHA:881
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Intrauterine growth retardation, Elevated circulating creatine kinase concentration, ...	OMIM:301056
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Vomiting, Elevated circulating hepatic transami...	OMIM:613070
Immunodeficiency 12	Recurrent viral infections, Recurrent aphthous stomatitis, Complete or near-complete absence of s...	OMIM:615468
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Isolated Congenital Hypoglossia/Aglossia	Aplasia/Hypoplasia of fingers, Microglossia, Aspiration pneumonia, Temporomandibular joint ankylo...	ORPHA:141152
Cocaine Intoxication	Colitis, Flank pain, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardi...	ORPHA:90068
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Squalene Synthase Deficiency	Slender long bone, Retrognathia, Bilateral cryptorchidism, Elbow flexion contracture, Hypocholest...	OMIM:618156
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Intestinal pseudo-obstr...	OMIM:603041
Flynn-Aird Syndrome	Carious teeth, Joint stiffness, Primary adrenal insufficiency, Type II diabetes mellitus, Abnorma...	ORPHA:2047
Crimean-Congo Hemorrhagic Fever	Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Anorexia, Neutr...	ORPHA:99827
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:614480
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Metaphyseal chondrodysplasia, Hypoplasia of the thymus	OMIM:200900
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Recurren...	OMIM:208900
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Retrognathia, Lymphopenia, Leukopenia, Recurrent infection of the...	OMIM:301110
Congenital Muscular Dystrophy Due To Lmna Mutation	Limitation of joint mobility, Congestive heart failure, Joint hypermobility, Talipes, Arrhythmia,...	ORPHA:157973
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, ...	OMIM:610984
Netherton Syndrome	Aminoaciduria, Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE...	ORPHA:634
Familial Colorectal Cancer Type X	Neoplasm of the colon, Stomach cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neop...	ORPHA:440437
Candidiasis, Familial, 1	Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Malabsorption, Neonata...	OMIM:152800
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Vomiting, Failure to thrive, Hypothyroidism, Hyperalaninemia, Hypochromic microcytic anemia, Anem...	OMIM:619147
Infantile Systemic Hyalinosis	Osteomalacia, Feeding difficulties, Polycystic ovaries, Osteopenia, Aplasia/Hypoplasia of the thy...	ORPHA:2176
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Iron deficiency anemia, Glome...	ORPHA:99931
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Pneumonia, Gastrointestinal hemorrhage, Abnormality of the hepatic vasculature...	ORPHA:247691
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Specific Granule Deficiency 2	Osteopenia, Intractable diarrhea, Recurrent pneumonia, Sepsis, Sandal gap, Failure to thrive, Rec...	OMIM:617475
Aids Wasting Syndrome	Malnutrition, Malabsorption, Abnormal gonadotropin-releasing hormone concentration, Cachexia, Wei...	ORPHA:90081
Rhabdoid Tumor	Hypercalcemia, Nausea and vomiting, Renal neoplasm, Neoplasm of the liver, Weight loss, Internal ...	ORPHA:69077
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo...	ORPHA:79106
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Elevated circulating propionylcarnitine concentration, Pancytopenia, Talipes equinovarus, Neutrop...	OMIM:277380
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine con...	OMIM:620366
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Dilated cardiomyopathy, Clinodactyly, Microgn...	OMIM:616730
Cinca Syndrome	Growth delay, Leukocytosis, Splenomegaly, Nausea and vomiting, Inflammatory abnormality of the ey...	ORPHA:1451
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, Vill...	OMIM:557000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Decreased circulating parathyroid hormone level, Rickets, Bulgin...	OMIM:241530
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Tenorio Syndrome	Osteopenia, Recurrent pneumonia, Gastroesophageal reflux, Hypoglycemia, Recurrent aphthous stomat...	OMIM:616260
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233690
Glycogen Storage Disease Ic	Inflammation of the large intestine, Spider hemangioma, Recurrent upper respiratory tract infecti...	OMIM:232240
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Diarrhea, Vomiting, Hypotension, Increased circul...	ORPHA:542323
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, ...	OMIM:617575
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Gastroesophageal reflux, HbH hemoglobin, Clinodactyly, Radial deviation of...	OMIM:301040
Castleman Disease	Myelofibrosis, Restrictive cardiomyopathy, Nausea and vomiting, Follicular hyperplasia, Intestina...	ORPHA:160
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Dent...	ORPHA:83451
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Dilated cardiomyopathy, Paraproteinemia, Micrognathia, High palate, Flex...	ORPHA:171442
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Avascular ...	OMIM:619377
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Growth delay, Fib...	OMIM:600081
Pulmonary Hemosiderosis	Iron deficiency anemia, Recurrent intrapulmonary hemorrhage	OMIM:178550
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr...	OMIM:619693
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Cirrhosis, Bronchiectasis, H...	OMIM:613490
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Growth delay, Short femoral neck, Abnormal...	ORPHA:94068
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, E...	OMIM:615234
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Gastroesophageal reflux, Arthrogryposis multiplex congenita, Retrognathia, Abnorm...	OMIM:618186
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri...	OMIM:301310
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Palmop...	ORPHA:2198
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Williams Syndrome	Nausea and vomiting, Mitral regurgitation, Arthralgia, Ataxia, Abdominal pain, Rectal prolapse, C...	ORPHA:904
Inflammatory Pseudotumor Of The Liver	Vomiting, Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B vi...	ORPHA:90003
Familial Adenomatous Polyposis 1	Carious teeth, Multiple lipomas, Hepatoblastoma, Osteoma, Desmoid tumors, Carcinoma, Adrenocortic...	OMIM:175100
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Abnormal circulating protein...	ORPHA:103910
Autosomal Agammaglobulinemia	Recurrent infections, Diarrhea, Bronchiectasis, Hepatitis, Failure to thrive, Sepsis, Recurrent r...	ORPHA:33110
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Silver-Russell Syndrome	Premature adrenarche, Recurrent hypoglycemia, Postnatal growth retardation, Micrognathia, Cryptor...	ORPHA:813
Riboflavin Transporter Deficiency	Hypogonadism, Cachexia, Dysphagia, Diabetes insipidus, Hypertension	ORPHA:97229
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent infections, Diarrhea, Recurrent upper respi...	OMIM:614069
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Palmoplantar blistering, Mitten deformity, Gastrointestinal inflammation, Anemia, ...	ORPHA:79409
Sodium-Dependent Multivitamin Transporter Deficiency	Clubbing of fingers, Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding...	OMIM:618973
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Lipid accumulation in hepatocytes, Feeding difficulties in infancy, Arrhythmia, Elevate...	OMIM:608836
Classic Mycosis Fungoides	Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy, ...	ORPHA:2584
Glucagonoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac...	ORPHA:97280
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Vomiting, Diarrhea, Failure to thrive, Cachexia, Weight loss, Feeding difficulties	OMIM:612075
Pachydermoperiostosis	Neoplasm of the skin, Small hand, Limitation of joint mobility, Elevated circulating growth hormo...	ORPHA:2796
Neuhauser Syndrome	Genu recurvatum, Bifid uvula, Osteopenia, Micrognathia, Genu valgum, Primary hypothyroidism, Arac...	OMIM:249310
Monosomy 22	Contractures of the large joints, Finger syndactyly, Meningioma, Gonadal neoplasm, Schwannoma, He...	ORPHA:96123
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Waldenström Macroglobulinemia	Normocytic anemia, Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrha...	ORPHA:33226
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th...	OMIM:619313
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula...	ORPHA:411593
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Weig...	OMIM:615846
Gaucher Disease	Decreased HDL cholesterol concentration, Pancytopenia, Increased circulating antibody level, Feed...	ORPHA:355
C1Q Deficiency 2	Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Malar rash, C...	OMIM:620321
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Abnormal blood ion concentration, Recurrent skin infections, Pyode...	ORPHA:79404
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Feeding difficulties	OMIM:614652
Propionic Acidemia	Hyperglycinuria, Pancytopenia, Hyperglycinemia, Feeding difficulties in infancy, Neutropenia, Hep...	OMIM:606054
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Acquired Aneurysmal Subarachnoid Hemorrhage	Vomiting, Vasospasm, Congestive heart failure, Hypopituitarism, Hyperglycemia, Ischemic stroke, L...	ORPHA:90065
Poems Syndrome	Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, In...	ORPHA:2905
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Abdominal colic, Elevated circulatin...	ORPHA:69663
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:242150
Specific Granule Deficiency 1	Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ...	OMIM:245480
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu...	OMIM:240900
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Homocystinuria, Vomiting, Diarrhea, Failure to thrive, Decreased methionine synth...	OMIM:250940
Nijmegen Breakage Syndrome	Acute leukemia, Glioma, Cachexia, Anal atresia, Autoimmune hemolytic anemia, Chronic diarrhea, He...	ORPHA:647
X-Linked Creatine Transporter Deficiency	Ileus, Malar flattening, Joint hypermobility, Aganglionic megacolon, Cachexia, Constipation, Abno...	ORPHA:52503
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Enterocolitis, Failure to thrive	OMIM:301108
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Intrauterine growth retardation, Gout, Hyperuricem...	OMIM:617056
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Recurrent viral infections, Diarrhea, Periodontitis, Recurrent aphthous stomatitis, Re...	ORPHA:486
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:603358
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Broad thumb, Cholestasis, Hyperbilirubinemia, Congenita...	OMIM:619534
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Cryptorchidism, Thi...	OMIM:249270
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Feeding diff...	OMIM:619046
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Recurrent urinary tract infections, Broad ha...	OMIM:620494
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Vomiting, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Hypog...	ORPHA:17
Trichothiodystrophy 3, Photosensitive	Neoplasm of the skin, Carious teeth, Meckel diverticulum, Failure to thrive, Natal tooth, Bilater...	OMIM:616395
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Diarrhea, Decreased circulating total IgG, Recurrent viral infect...	ORPHA:221139
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections...	OMIM:613179
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased lecithin cholesterol acyl transferase level, Decreased HDL choles...	OMIM:245900
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen...	OMIM:618892
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Anorexia, Short sta...	OMIM:611590
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Diarrhea, Failure ...	OMIM:615758
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis	OMIM:617609
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Gastrointestinal hemorrhage, Osteopenia, Aplastic anemia, Oral leuko...	OMIM:613990
Viss Syndrome	Increased circulating IgE level, Exostosis of the external auditory canal, Cleft soft palate, Mic...	OMIM:619472
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Increased circulating lactate dehydrogenase concentration, Abnormal ...	ORPHA:86841
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Carious ...	ORPHA:53
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In...	ORPHA:93941
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Neutropenia, Abnormal bone ossification, Hepatomegaly, Diap...	ORPHA:175
Mcdonough Syndrome	Dental malocclusion, Micrognathia, Cryptorchidism, Cachexia, Short stature, Mandibular prognathia	ORPHA:2471
Sapho Syndrome	Inflammation of the large intestine, Psoriasiform dermatitis, Palmoplantar pustulosis, Neoplasm o...	ORPHA:793
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Severe viral infection, Anore...	ORPHA:319251
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Chronic diarrhea, Recurrent gram...	OMIM:116920
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Nausea and vomiting, Hyperammonemia, Macrocytic anemia, Hepatomegaly,...	ORPHA:27
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ...	OMIM:619644
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Bilateral cleft...	ORPHA:56304
Alexander Disease Type I	Cachexia, Vomiting, Dysphagia, Failure to thrive	ORPHA:363717
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Micrognathia, Metatarsus valgus, Joint hypermobility, Hypothyroidism, Hypercholestero...	ORPHA:2479
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Hydroxyprolinuria, Sclerosis of skull base, Femoral bowing, Increase...	OMIM:602080
Mulibrey Nanism	Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature	ORPHA:2576
Pulmonary Blastoma	Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma	ORPHA:64741
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Small hand, Elbow flexion contracture, Intrauterine growth retardation, Micrognathia, Hip contrac...	ORPHA:371364
Idiopathic Non-Lupus Full-House Nephropathy	Reduced circulating complement concentration, Elevated circulating creatinine concentration, Skin...	ORPHA:567544
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu...	ORPHA:732
Systemic-Onset Juvenile Idiopathic Arthritis	Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated circulating C-reactiv...	ORPHA:85414
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A...	OMIM:616636
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Isolated Agammaglobulinemia	Diarrhea, Inflammatory abnormality of the eye, Meningitis, Recurrent cutaneous abscess formation,...	ORPHA:229717
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Hyperbilirubinemia, Micrognathia, Cryptorch...	OMIM:210710
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Bronchiectasis, Elevated circulating hepatic transaminase concentration, L...	ORPHA:1572
Bone Marrow Failure Syndrome 3	Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Acute m...	OMIM:617052
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Diencephalic Syndrome	Decreased body weight, Neoplasm of the nervous system, Cachexia, Large hands, Abnormality of the ...	ORPHA:1672
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ...	ORPHA:494444
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
C3 Glomerulopathy	Paraproteinemia, Elevated circulating creatinine concentration, Decreased circulating complement ...	ORPHA:329918
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Tetrasomy 12P	Delayed eruption of teeth, Joint hypermobility, Cachexia, Short stature, Abnormal soft palate mor...	ORPHA:884
Alveolar Echinococcosis	Abnormal mesentery morphology, Increased circulating antibody level, Abnormal spleen morphology, ...	ORPHA:284
Proteus Syndrome	Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Splenomegaly, Multipl...	OMIM:176920
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pain, Pustule, Increased circulating Ig...	ORPHA:555905
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Hypotension, Sepsis, Abnor...	ORPHA:70578
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Congenital Lethal Erythroderma	Hypoalbuminemia, Malabsorption, Congenital exfoliative erythroderma, Failure to thrive	ORPHA:1954
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev...	ORPHA:449432
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic...	OMIM:616084
Aapoaiv Amyloidosis	Atrial flutter, Paraproteinemia, Hypertrophic cardiomyopathy, Elevated circulating creatinine con...	ORPHA:439232
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Adult-Onset Still Disease	Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, A...	ORPHA:829
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Skin rash, Weight loss, Lymphadeno...	ORPHA:391
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Opportunistic bacterial infection, Abnormal T cell subset distrib...	ORPHA:158048
Hereditary Folate Malabsorption	Cheilitis, Gastroesophageal reflux, Diarrhea, Failure to thrive, Recurrent respiratory infections...	ORPHA:90045
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Increased circulating lactate dehydrogenase concentration, Failure to thrive, Flar...	OMIM:259700
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Diarrhea, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, F...	ORPHA:1842
Fumarase Deficiency	Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Cutaneous leiomyoma, Polycythemia, Fail...	OMIM:606812
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,...	ORPHA:2204
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Finger swelling, Chronic myelomonocytic...	ORPHA:90280
Kaufman Oculocerebrofacial Syndrome	Recurrent infections, Congenital hip dislocation, Carious teeth, Failure to thrive, Intestinal ma...	OMIM:244450
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen...	OMIM:616834
Alopecia Totalis	Inflammation of the large intestine	ORPHA:700
Acute Adrenal Insufficiency	Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Hyperkalemia, Androgen insu...	ORPHA:95409
Legionnaires Disease	Diarrhea, Nausea and vomiting, Arrhythmia, Arthralgia, Ataxia, Recurrent pharyngitis, Anorexia, A...	ORPHA:549
Schimke Immunoosseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Talipes equi...	OMIM:242900
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransfera...	ORPHA:99829
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice, Neonata...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice, Neonata...	ORPHA:529808
Erythroderma, Lethal Congenital	Hypoalbuminemia, Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Familial Mediterranean Fever	Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease...	OMIM:249100
Cockayne Syndrome	Carious teeth, Absence of pubertal development, Postnatal growth retardation, Cryptorchidism, Del...	ORPHA:191
Kawasaki Disease	Diarrhea, Nausea and vomiting, Arrhythmia, Recurrent pharyngitis, Elevated circulating C-reactive...	ORPHA:2331
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Intestinal bleeding, Adenomatous colonic polyposis, Micrognathia, Duodenal polyposis, Hepatoblast...	ORPHA:261584
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Pes cavus, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia, Hydrocele testis	OMIM:618972
Congenital Factor Xiii Deficiency	Epistaxis, Inflammation of the large intestine, Hepatic failure, Myeloid leukemia, Cerebral hemor...	ORPHA:331
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Growt...	ORPHA:541423
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Vomiting, Failure to thrive, Hyponatremia, Feeding difficulties in infancy, Hyperkal...	OMIM:203400
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Osteomalacia, Rickets of the lower limbs, Tooth abscess, Genu varum, Mala...	ORPHA:289176
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Homocystinuria, Failure to thrive, Decreased methionine synthase activity, Hyp...	OMIM:236270
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Esophagitis...	ORPHA:2908
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con...	OMIM:615947
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Limitation of joint mobility, Carpal osteolysis, Slender long bone, Camptodactyly of finger, Meta...	ORPHA:2774
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Reduced natural killer cell a...	OMIM:608898
Dyskeratosis Congenita	Carious teeth, Periodontitis, Cirrhosis, Hepatomegaly, Esophageal stenosis, Hypoplasia of the max...	ORPHA:1775
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosi...	OMIM:267500
Hemorrhagic Fever-Renal Syndrome	Diarrhea, Hyperphosphatemia, Decreased body weight, Acute tubulointerstitial nephritis, Glomerulo...	ORPHA:340
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Elevated circulati...	ORPHA:457077
Hypercholanemia, Familial 1	Rickets, Failure to thrive, Increased serum bile acid concentration, Steatorrhea, Fat malabsorption	OMIM:607748
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Pulmonary embolism, Abnormal circulating lipi...	ORPHA:567548
Ck Syndrome	Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Malar flattening, A...	OMIM:300831
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA...	OMIM:275350
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Dilated cardiomyopathy, Eczematoid dermatitis, Clinodactyly, M...	OMIM:618348
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Dental malocclusion, Cortical sclerosis, Osteomyelitis,...	ORPHA:210110
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Enamel hypoplasia	OMIM:618349
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr...	ORPHA:79329
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Arachnodactyly, Joint stiffness, Cachexia, Short stature	ORPHA:1144
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Increased circulating prolactin concentration, Recurrent otitis media, Slender build...	ORPHA:3455
Folate Malabsorption, Hereditary	Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, F...	OMIM:229050
Acromesomelic Dysplasia 2A	Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi...	OMIM:200700
Immunodeficiency 46	Sepsis, Conjunctivitis, Failure to thrive, Chronic diarrhea, Recurrent sinopulmonary infections, ...	OMIM:616740
Bloom Syndrome	Postnatal growth retardation, Type II diabetes mellitus, Hepatic steatosis, Cryptorchidism, Leuke...	OMIM:210900
Lymphoma, Hodgkin, Classic	Hodgkin lymphoma, Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemag...	OMIM:236000
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Dengue Fever	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Nausea and vomiting, Skin rash, Ar...	ORPHA:99828
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Esophageal ne...	ORPHA:44890
Gorham-Stout Disease	Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Cort...	ORPHA:73
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis	ORPHA:90368
Cutis Laxa, Autosomal Recessive, Type Ic	Recurrent pneumonia, Gastroesophageal reflux, Growth delay, Rectal prolapse, Feeding difficulties...	OMIM:613177
Vici Syndrome	Recurrent viral infections, Lymphopenia, Postnatal growth retardation, Micrognathia, Decreased pr...	OMIM:242840
Congenital Dyserythropoietic Anemia Type Iii	Melena, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum...	ORPHA:98870
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor...	OMIM:600785
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung...	ORPHA:169090
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Cryptorchidism, Encephalocele, Talipes, Talipes equ...	OMIM:108720
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism,...	OMIM:612541
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Cachexia, Short stature, Elevated circulating creatine kinase concentration	ORPHA:1933
Cinca Syndrome	Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulat...	OMIM:607115
Gm1 Gangliosidosis	Aspiration pneumonia, Hepatosplenomegaly, Weight loss, Dysphagia, Patent ductus arteriosus, Mandi...	ORPHA:354
Muir-Torre Syndrome	Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor...	OMIM:158320
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, BCGitis, Lymphopenia, Decreased circulating I...	OMIM:612782
Williams-Beuren Syndrome	Recurrent otitis media, Mitral regurgitation, Chronic constipation, Feeding difficulties in infan...	OMIM:194050
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Vomiting, Disproportionate short-limb short sta...	OMIM:241500
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ...	ORPHA:66529
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Idiopathic Bronchiectasis	Bronchiectasis, Recurrent Haemophilus influenzae infections, Cachexia, Acute infectious pneumonia...	ORPHA:60033
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Micrognathia, Cryptorchidism, Talipes equinovarus, Large hands, Dyspha...	OMIM:264090
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Joint stiffness, Cachexia	ORPHA:1216
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Moynahan Syndrome	Hypogonadism, Cachexia, Short stature	ORPHA:2574
Congenital Analbuminemia	Hypoalbuminemia, Pedal edema, Obesity, Hyperlipidemia, Increased circulating antibody level, Hype...	ORPHA:86816
Cystinosis	Aminoaciduria, Type I diabetes mellitus, Vomiting, Rickets, Failure to thrive, Malabsorption, Por...	ORPHA:213
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Early-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Failure to thrive, Postnatal growth retardation, Hyponatremia, Orthostatic...	ORPHA:556030
Rhizomelic Dysplasia, Ain-Naz Type	Severe short stature, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, S...	OMIM:619598
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Micrognathia, Hepatic ...	OMIM:619991
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin...	ORPHA:79096
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Hypertension	OMIM:161900
Diamond-Blackfan Anemia 6	Bifid uvula, Increased mean corpuscular volume, Tracheomalacia, Short thumb, Persistence of hemog...	OMIM:612561
Classical Ehlers-Danlos Syndrome	Vomiting, Gastroesophageal reflux, Arterial rupture, Limb pain, Mitral regurgitation, Chronic con...	ORPHA:287
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract...	OMIM:619523
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Osteopenia, Gastroesophageal reflux, Aplastic anemia, Pancytopenia, ...	OMIM:614742
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon...	ORPHA:90647
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increase...	ORPHA:289390
Ebola Hemorrhagic Fever	Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Sepsis, Lymphopen...	ORPHA:319218
Late-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Failure to thrive, Postnatal growth retardation, Hyponatremia, Orthostatic...	ORPHA:556037
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Ankle clonus, Thrombocytopenia, Neutropenia, Anemia,...	OMIM:159550
Overlap Myositis	Rheumatoid arthritis, Elevated circulating hepatic transaminase concentration, Finger swelling, A...	ORPHA:206572
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Finger syndactyly,...	ORPHA:110
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Absent natural killer cells, Lymphopenia, H...	ORPHA:35078
Dermatosparaxis Ehlers-Danlos Syndrome	Severe short stature, Osteopenia, Gastroesophageal reflux, Rickets, Retrognathia, Osteomalacia, J...	ORPHA:1901
Omenn Syndrome	Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia...	ORPHA:39041
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Meningococcal Meningitis	Hypotension, Sepsis, Shock, Paresthesia, Skin rash, Infectious encephalitis, Anorexia, Elevated c...	ORPHA:33475
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia, Fat malabsorption	OMIM:614338
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Microgna...	OMIM:147891
Achondroplasia	Rhizomelia, Neonatal short-limb short stature, Short femur, Radial bowing, Flared metaphysis, Rec...	OMIM:100800
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	OMIM:616415
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Lymphopenia, Overlapping fingers, Micrognathia, Knee flexion...	OMIM:619708
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Arthralgia, Ac...	ORPHA:707
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Secretory diarrhea, Hyperostosis, Seborrheic dermatitis, Periostosis, Acne, Club...	OMIM:614441
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Pulmonary venous hypertension, Decre...	ORPHA:90060
Proprotein Convertase 1/3 Deficiency	Diarrhea, Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Malabsorption,...	OMIM:600955
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Failure to thrive, Intrauterine growth retardation, Micrognathia, Hiatus hernia,...	OMIM:617729
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Epistaxis, Gastroesophageal reflux, Chronic pain, Paresthesia, Nausea and vo...	ORPHA:285
Kaposi Sarcoma	Neoplasm of the skin, Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, A...	ORPHA:33276
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph ...	ORPHA:54251
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Increased circulating lactate dehy...	ORPHA:370348
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Decreased circulating IgG level, Abnormal epiphysis morphology, Intrauterin...	ORPHA:2643
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Genu valgum, Cryptorchidism, Joint hypermobility, Gastrointestinal dysmot...	OMIM:617798
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Lymphoma, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Infantile Krabbe Disease	Vomiting, Gastroesophageal reflux, Failure to thrive, Abnormal circulating enzyme concentration o...	ORPHA:206436
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Acute Lung Injury	Pneumonia, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis facto...	ORPHA:178320
Immunodeficiency 96	Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula...	OMIM:619774
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Cryptorchidism, Arachnodactyly, Talipes equinovarus, Feeding difficu...	ORPHA:567
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Gastrointestinal infarctions, Cereb...	ORPHA:3287
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Snakebite Envenomation	Epistaxis, Hypotension, Neuromuscular dysphagia, Vomiting, Diarrhea, Cardiogenic shock, Pseudobul...	ORPHA:449285
Vexas Syndrome	Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Cyanosis, Lymphadenopathy, Ele...	ORPHA:79126
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Mult...	ORPHA:1879
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li...	OMIM:252500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Lymphopenia, Micrognathia, Cryptorchidism, Elevated circulating alkaline phosphatase ...	OMIM:620005
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha...	ORPHA:64753
Shwachman-Diamond Syndrome 2	Normocytic anemia, Recurrent infections, Diarrhea, Failure to thrive, Exocrine pancreatic insuffi...	OMIM:617941
Corticosteroid-Binding Globulin Deficiency	Hypotension, Asthenia, Hypokalemia, Fatigue, Hypertension, Reduced circulating cortisol-binding g...	OMIM:611489
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Sepsis,...	OMIM:614886
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyponatremia, Hyperkalemia, Feeding difficult...	OMIM:177735
Weismann-Netter Syndrome	Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b...	ORPHA:3344
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Hyposerinemia, Vomiting, Gastroesophageal reflux, Failure to thrive, Umbilical he...	ORPHA:79351
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Ocular albinism, Co...	OMIM:203300
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Ane...	OMIM:618116
Methylmalonic Acidemia With Homocystinuria Type Cblf	Recurrent infections, Elevated circulating palmitoleylcarnitine concentration, Failure to thrive,...	ORPHA:79284
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Micrognathia, Neutropenia, Basal cell carcinoma, High palate, Hypopl...	OMIM:105650
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, Myelodysplasia, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Failure to thriv...	ORPHA:217346
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha...	ORPHA:3162
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Osteomalacia, Postnatal growth retardatio...	OMIM:227810
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive, Recurrent urinary tract infect...	OMIM:617157
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Sepsis, Shivering, Shock, Chest pain, Gangrene, Severe infection, Acute i...	ORPHA:36238
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Preaxial hand polydacty...	OMIM:277170
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Osteomalacia, Postnatal growth retardation, Genu ...	OMIM:309000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thromboc...	ORPHA:49827
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Cowden Syndrome 1	Lymphopenia, Micrognathia, Ovarian cyst, High palate, Carcinoma, Thyroid adenoma, Hypoplasia of t...	OMIM:158350
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid...	ORPHA:157215
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L...	ORPHA:139402
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Diarrhea, Vomiting, Failure to thrive, Hyponatremia, Feeding difficulties in infancy...	OMIM:264350
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre...	ORPHA:167
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Hand clenching, Joint contracture of the hand, Slender finger, Intrauterine grow...	OMIM:251300
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Postnatal growth retardation, Intrauterine growth ...	OMIM:616733
Systemic Sclerosis	Intestinal bleeding, Finger swelling, Telangiectasia, Glomerulonephritis, Recurrent skin infectio...	ORPHA:90291
Tempi Syndrome	Polycythemia, Increased hematocrit, Telangiectasia, Hemangioma, Increased circulating IgG level, ...	ORPHA:284227
Galactose Epimerase Deficiency	Aminoaciduria, Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth del...	ORPHA:79238
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Weight loss, Anorexia, Hepatomegaly, Me...	ORPHA:781
Fibronectin Glomerulopathy	Hypoalbuminemia, Hypertension, Pedal edema, Cerebral hemorrhage	ORPHA:84090
Aceruloplasminemia	Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl...	OMIM:604290
Reactive Arthritis	Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infe...	ORPHA:29207
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Failure to thrive, Dec...	OMIM:600802
Diamond-Blackfan Anemia 11	Finger aplasia, Bone marrow hypocellularity, Absent thumb, Unilateral radial aplasia, Anemia of i...	OMIM:614900
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Hypogonadism, Decreased testicul...	ORPHA:85293
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Facial capi...	OMIM:274000
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Lethal short-limbed short stature, Joint stiffness, Femoral bowing,...	ORPHA:1860
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl...	OMIM:620454
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Cholestasis, Humerus varus, Esophagitis, Genu valgum, Pes pla...	ORPHA:198
Congenital Syphilis	Diarrhea, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Large pla...	ORPHA:499009
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, Aganglionic megacolon, ...	OMIM:239300
Sheehan Syndrome	Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Obesity, Palpitation...	ORPHA:91355
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor...	OMIM:618752
Xfe Progeroid Syndrome	Hypoalbuminemia, Severe short stature, Elevated circulating hepatic transaminase concentration, F...	OMIM:610965
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Hypovolemic shock, Vomiting, Cholelithiasis, Recurrent tonsillitis, Abnormal c...	ORPHA:171876
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Small hand, Dilated cardiomyopathy, Type II diabetes mellitus, Short clavic...	ORPHA:401923
Stickler Syndrome	Slender build, Micrognathia, Genu valgum, Arachnodactyly, Short hard palate, Feeding difficulties...	ORPHA:828
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb undergrowth, Aplasia/hy...	ORPHA:75508
Dent Disease 1	Delayed epiphyseal ossification, Aminoaciduria, Rickets, Glycosuria, Bulging epiphyses, Osteomala...	OMIM:300009
Li-Fraumeni Syndrome	Choriocarcinoma, Stomach cancer, Melanoma, Neoplasm of the rectum, Hodgkin lymphoma, Acute myeloi...	ORPHA:524
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Hypocholesterolemia, Micrognathia, Feeding difficulties in infancy, ...	OMIM:618810
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid arthritis, Budd-Chiari syndrome, Elevated circulating creatinine co...	ORPHA:49041
Rheumatoid Arthritis	Vasculitis, Rheumatoid arthritis, Weight loss, Arthralgia, Fatigue, Elevated circulating C-reacti...	OMIM:180300
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat...	OMIM:618372
Steinert Myotonic Dystrophy	Neoplasm of the skin, Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperin...	ORPHA:273
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Trichinellosis	Increased circulating IgE level, Skin rash, Nausea, Meningitis, Trismus, Retinal hemorrhage, Conj...	ORPHA:863
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:306400
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Methemoglobinemia, Beta Type	Methemoglobinemia, Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia, Cyanosis	OMIM:617973
Autosomal Dominant Optic Atrophy, Classic Form	Hypogonadism, Pes cavus, Macrocytic anemia, Hypothyroidism, Dysphagia, Feeding difficulties, Diab...	ORPHA:98673
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Frequent Giardia lamblia infe...	OMIM:615577
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu...	ORPHA:2790
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ...	OMIM:242860
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Hepatomegaly, Gastrointestinal hemorrhage, Hypertrophic cardiom...	OMIM:276700
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Micrognathia...	ORPHA:2575
Neuroblastoma	Elevated circulating catecholamine level, Increased circulating lactate dehydrogenase concentrati...	ORPHA:635
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili...	OMIM:301068
Wolfram Syndrome 1	Growth delay, Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Sideroblastic a...	OMIM:222300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Diarrhea, Microangiopathic hemolytic ane...	OMIM:235400
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblast...	OMIM:229100
Fg Syndrome Type 1	Finger syndactyly, Clinodactyly of the 2nd finger, Slender build, Micrognathia, Cryptorchidism, P...	ORPHA:93932
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Pneumocystosis	Pneumocystis jirovecii pneumonia, Increased circulating lactate dehydrogenase concentration, Neop...	ORPHA:723
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly, Br...	ORPHA:86893
Hyperostosis Corticalis Generalisata	Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u...	ORPHA:3416
Gitelman Syndrome	Hypotension, Vomiting, Failure to thrive, Hypomagnesemia, Paresthesia, Palpitations, Hypokalemia,...	OMIM:263800
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Pulmonary hemorrhage, Protein avoidance, Hepatomegaly, Hypolysinemia,...	OMIM:222700
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto...	ORPHA:35858
Panhypophysitis	Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea...	ORPHA:95513
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Zika Virus Disease	Myelitis, Vomiting, Ankle swelling, Intrauterine growth retardation, Skin rash, Maculopapular exa...	ORPHA:448237
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Dysphagia, Normochromic anemia	OMIM:254900
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Hypotension, Diarrhea, Vomiting, Failure to thrive, Recurrent urinary trac...	ORPHA:361
Birk-Aharoni Syndrome	Absent patellar reflexes, Failure to thrive, Micrognathia, Cryptorchidism, Macrocytic anemia, Tub...	OMIM:620071
Polycythemia Vera	Early satiety, Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycy...	ORPHA:729
Necrotizing Enterocolitis	Hypotension, Diarrhea, Vomiting, Small for gestational age, Hypoactive bowel sounds, Shock, Brady...	ORPHA:391673
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Joint contracture of the hand, Elevated circulating long chain fatty acid concentr...	OMIM:214110
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Pes plan...	OMIM:203800
Juvenile Dermatomyositis	Arrhythmia, Weight loss, Arthralgia, Calcinosis, Elevated circulating C-reactive protein concentr...	ORPHA:93672
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Diarrhea, Failure to thrive in infancy, Leukocytosis, Panniculitis, Chronic diarrhea,...	OMIM:617099
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Hypotension, Recurrent viral infections, Failure to thrive, Recurrent upper ...	ORPHA:293978
Trisomy 18	Microretrognathia, Deviation of finger, Growth delay, Camptodactyly of finger, Abnormal hip bone ...	ORPHA:3380
Adenohypophysitis	Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr...	ORPHA:95512
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Delayed eruption of teeth, Micrognathia, Elliptocyto...	OMIM:300990
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa...	ORPHA:905
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Elevated circulatin...	OMIM:618775
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morpho...	ORPHA:93160
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Megaloblastic anemia, Adducted thumb, Thrombocytopenia, Reduced 3-phos...	OMIM:601815
Nipah Virus Disease	Hypotension, Myalgia, Nausea and vomiting, Infectious encephalitis, Recurrent pharyngitis, Fatigu...	ORPHA:99825
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Gastroesophageal reflux, Volvulus, Recurrent urinary tract infections, Joint stiffness, Clinodact...	ORPHA:847
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Metatropic Dysplasia	Severe short stature, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hyp...	ORPHA:2635
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Basal cell carcinoma, Gastroesophageal reflux, Oral leukoplakia,...	OMIM:620040
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Supernumerary nipple, Elevated circulating creatinine concentratio...	OMIM:614376
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Trichothiodystrophy	Carious teeth, Cryptorchidism, Neutropenia, Clubbing, High, narrow palate, Osteopenia, Eczematoid...	ORPHA:33364
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Aspiration pneumonia, Arrhythmia, Urinary incontinence, Tachycardia, Hyperkale...	ORPHA:94093
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Hepatomegaly, Neutrophilia, Elevated ci...	OMIM:612852
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Insulin resistance, Vomiting, Diarrhea, Hypoglycemia, Abnormal EKG, Elevated...	ORPHA:230
Glycogen Storage Disease Iv	Hepatic failure, Failure to thrive, Cardiomyopathy, Abnormal circulating creatine kinase concentr...	OMIM:232500
Lynch Syndrome	Neoplasm of the skin, Colon cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neoplas...	ORPHA:144
Chronic Granulomatous Disease	Eczematoid dermatitis, Splenomegaly, Otitis media, Hepatomegaly, Sinusitis, Inflammatory abnormal...	ORPHA:379
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Extramedullary hematopoiesis, Cra...	OMIM:259710
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Conjunctivitis, Nausea and vomiting, Episcleritis, Skin rash, Inflammatory abnormality ...	ORPHA:36412
Kenny-Caffey Syndrome, Type 1	Small hand, Carious teeth, Slender long bone, Hypomagnesemia, Intrauterine growth retardation, Hy...	OMIM:244460
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Infancy onset short-trunk short stature, Branchial cyst, Talipes, Fe...	ORPHA:508488
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Elevated circulating alkaline phosphatase concentratio...	ORPHA:89936
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Enlargement of the ankles, Aminoaciduria...	ORPHA:1652
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Limitation of joint mobility, Growth delay, Re...	ORPHA:343
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Pituitary prolactin ce...	ORPHA:652
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Short tibia, Abnormal circulating ceruloplasmin concen...	OMIM:620306
Bile Acid Conjugation Defect 1	Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:619232
Good Syndrome	Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent urina...	ORPHA:169105
Thrombocytopenia 1	Decreased mean platelet volume, Epistaxis, Eczematoid dermatitis, Increased circulating IgE level...	OMIM:313900
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Pes cavus, Mild intrauterine growth retardation, Increased HbA2 hemoglo...	OMIM:616943
Neuroendocrine Tumor Of The Rectum	Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp...	ORPHA:100082
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Dysphagia, In...	ORPHA:447
Pyle Disease	Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis...	OMIM:265900
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine, Episodic vom...	OMIM:612736
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Diarrhea, Increased circulati...	ORPHA:99889
Pmm2-Cdg	Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of...	ORPHA:79318
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Hepatomegaly, Elevat...	ORPHA:50918
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Genu valgum, Hypophosphatemia, Weight loss, Hepato...	OMIM:219800
Neuroendocrine Tumor Of The Colon	Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Hypoactive bowel sounds, Pr...	ORPHA:100080
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Aminoaciduria, Failure to thrive, Hypoglycemia, Intrauterine growth retardation,...	OMIM:619055
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Slender long bone, Abnormal blood phosphate concentration, Decreased c...	OMIM:619795
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Failure to thrive, Impaired T cell function, Recurrent candida infections, Hypogonadism...	OMIM:201100
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ...	ORPHA:1876
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hep...	ORPHA:699
Hirschsprung Disease	Diarrhea, Sepsis, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tr...	ORPHA:388
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Cachexia, Postaxial hand polydactyly, Short stature, Recurrent respiratory inf...	ORPHA:1389
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Infant Botulism	Hypotension, Mydriasis, Xerostomia, Hyponatremia, Hypertension, Keratoconjunctivitis sicca, Const...	ORPHA:178478
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis	OMIM:614196
Rett Syndrome	Gastroesophageal reflux, Abnormal T-wave, Cachexia, Constipation, Short stature, Short foot, Prol...	OMIM:312750
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Joint stiffness, Protruding tongue, Splenomegaly, Decr...	OMIM:230600
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ...	OMIM:612447
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Anterior encephalocele, Bilateral cleft palate, Short femur	OMIM:601357
Rh Deficiency Syndrome	Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy...	ORPHA:71275
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Hypoglycemia, Increased cir...	ORPHA:95613
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia	ORPHA:664
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Cirrhosis, Hepatomegaly, Tube feeding, High palate, Neonatal hypoglycemia, Fai...	OMIM:619418
Coffin-Lowry Syndrome	Mitral regurgitation, Decreased body weight, High palate, Short stature, Narrow palate, Rectal pr...	OMIM:303600
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di...	OMIM:598500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Chorea, Esophagitis, Intrauterine growth retardation, Myalgia, Elevated circulating creatine kina...	OMIM:615356
Hyper-Igd Syndrome	Recurrent infections, Diarrhea, Lymphadenitis, Vomiting, Molluscum contagiosum, Hepatosplenomegal...	OMIM:260920
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Posterior uveitis, Nongranulomatous uveitis, Panuveitis, Aminoaciduria, Elevat...	ORPHA:91500
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Weight loss, Tubulointerstitial nephritis, Abdominal...	ORPHA:183
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Osteogenesis Imperfecta	Carious teeth, Abnormal tibia morphology, Micrognathia, Genu valgum, Intestinal obstruction, Decr...	ORPHA:666
Juvenile Polyposis Syndrome	Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal...	ORPHA:2929
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Erythrokeratodermia Variabilis	Neoplasm of the skin, Patchy palmoplantar hyperkeratosis, Skin rash, Weight loss, Brachydactyly, ...	ORPHA:317
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Gastroesophageal reflux, Recurrent upper respiratory tract infections, Persi...	OMIM:619769
3-Hydroxy-3-Methylglutaric Aciduria	Diarrhea, Recurrent hypoglycemia, Lipid accumulation in hepatocytes, Weight loss, Anorexia, Hepat...	ORPHA:20
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go...	ORPHA:412
Thymic Neuroendocrine Tumor	Osteopenia, Mediastinal lymphadenopathy, Pituitary adenoma, Neuroendocrine neoplasm, Pituitary pr...	ORPHA:97289
Familial Hypoaldosteronism	Hypotension, Diarrhea, Failure to thrive, Nausea and vomiting, Hyponatremia, Hypovolemia, Orthost...	ORPHA:427
Say-Barber-Miller Syndrome	Carious teeth, Micrognathia, Cryptorchidism, Impaired neutrophil chemotaxis, Erythema nodosum, Hi...	ORPHA:3132
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Joint stiffness, Cachexia, Short stature, Recurrent respiratory inf...	ORPHA:702
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Arrhythmia, He...	ORPHA:26793
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Malabsorption, Abnormal metaphysis morphology, Agammaglobulinemia, Aganglionic megac...	ORPHA:935
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Lymphadenopathy...	ORPHA:79456
Juvenile Amyotrophic Lateral Sclerosis	Upper-limb joint contracture, Gastrostomy tube feeding in infancy, Cachexia, Lower-limb joint con...	ORPHA:300605
Pfapa Syndrome	Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden...	ORPHA:42642
Johanson-Blizzard Syndrome	Failure to thrive, Anteriorly placed anus, Delayed eruption of teeth, Exocrine pancreatic insuffi...	ORPHA:2315
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Formiminoglutamic Aciduria	Anemia, Abnormal circulating histidine concentration, Megaloblastic anemia, Abnormal circulating ...	ORPHA:51208
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Palpitations, Elevated circulating creatine kinase concentratio...	OMIM:255125
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Peritonitis, Abdominal pain	ORPHA:656
Dermatomyositis	Abnormal eosinophil morphology, Lung adenocarcinoma, Feeding difficulties in infancy, Arrhythmia,...	ORPHA:221
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Myalgia, Mitral regurgitation, Hype...	OMIM:620300
Intestinal Dysmotility Syndrome	Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Pes valgus, ...	OMIM:620045
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Hypoglycemia, Elevated circulati...	ORPHA:79282
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Hypocal...	ORPHA:64744
Zollinger-Ellison Syndrome	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:913
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff...	ORPHA:71272
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ...	OMIM:145600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Failure to thrive, Recurrent respiratory infections, H...	OMIM:618278
Lujo Hemorrhagic Fever	Abdominal cramps, Vomiting, Diarrhea, Hypotension, Subconjunctival hemorrhage, Severe viral infec...	ORPHA:319213
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, En...	OMIM:134780
Hypomagnesemia 3, Renal	Hyperphosphatemia, Genu valgum, Elevated circulating alkaline phosphatase concentration, Hypomatu...	OMIM:248250
Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Prostatitis, Arrhythmia, Weight loss, Elevated circu...	ORPHA:900
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated hyperbiliru...	ORPHA:294
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Micrognathia, Elliptocytosis, Hepatomegaly, High palate, Secondary hyperparathyroid...	ORPHA:2785
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me...	ORPHA:93333
Cutaneous Mastocytoma	Hypotension, Vomiting, Diarrhea, Telangiectasia macularis eruptiva perstans, Nausea, Telangiectas...	ORPHA:79455
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ...	OMIM:602347
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Nausea and vomiting, Anemia of inadequate product...	ORPHA:91349
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Vomiting, Diarrhea, Rickets, Failure to thrive, Hepatomegaly, Osteoporosis	OMIM:560000
Marfan Syndrome	Slender build, Micrognathia, Mitral regurgitation, Limited elbow movement, Arachnodactyly, Cachex...	ORPHA:558
Familial Pancreatic Carcinoma	Peritoneal abscess, Intestinal pseudo-obstruction, Hepatosplenomegaly, Nausea and vomiting, Melan...	ORPHA:1333
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co...	OMIM:620121
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Micrognathia, Macrocytic anemia, Short stature, Granulocytopenia, Cleft palate, Feed...	OMIM:606164
Digeorge Syndrome	Recurrent otitis media, Micrognathia, Hepatic steatosis, Ovarian cyst, Patellar dislocation, High...	OMIM:188400
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Failure to thrive, Chroni...	OMIM:615607
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hyposerinemia, Gastroesophageal reflux, Postnatal growth retardation, Esophagitis, Feeding diffic...	ORPHA:79350
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Increased circulating prolactin concentration, Aspiration pneumonia, Feeding difficulties, Crypto...	ORPHA:438213
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Malabsorption, Duodenal ulcer, Cachexia, Brachydactyly, Steatorrhea, Chronic diarrhea, Short palm	ORPHA:3217
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Elevated hepatic iron concentrat...	OMIM:206100
Multiple Endocrine Neoplasia Type 4	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:276152
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit...	ORPHA:51636
Scleromyxedema	Gastroesophageal reflux, Paraproteinemia, Transient ischemic attack, Elevated circulating creatin...	ORPHA:167635
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Increased circulating antibody...	ORPHA:77261
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Tal...	OMIM:619743
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Hyperammonemia, Elevated circulating creatin...	OMIM:212138
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess	OMIM:620534
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Growth delay, Hypoglycemia, Xanthelasma,...	OMIM:232200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Elevated circulating hepatic transaminase concentration, Rickets, Gl...	OMIM:616026
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Familial Benign Copper Deficiency	Short stature, Diaphyseal undertubulation, Anemia, Decreased circulating copper concentration, Acne	ORPHA:1551
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Cyanosis, Transient Neonatal	Reticulocytosis, Cyanosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Vomiting, Rickets, Failure to thrive, Hypokalemia, Growth delay	OMIM:602722
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Intestinal bleeding, Osteopenia, Oral leukoplakia, Pathologic fractu...	OMIM:612199
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Carious teeth, Aplastic anemia, Increased mean corpuscular volume, O...	OMIM:127550
Icf Syndrome	Recurrent respiratory infections, Umbilical hernia, Lymphopenia, Malabsorption, Micrognathia, Pro...	ORPHA:2268
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva...	OMIM:619111
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Retrognathia, Hypogonadism, Malabsorption, Intestinal obstructio...	OMIM:601675
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Poliomyelitis	Hypovolemic shock, Myelitis, Vomiting, Hypotension, Exercise intolerance, Impairment of activitie...	ORPHA:2912
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Minimal change glomerulonephritis, Pulmonary embolism, Reduced circulating compl...	ORPHA:567546
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin	ORPHA:90037
Fanconi Renotubular Syndrome 3	Aminoaciduria, Rickets, Glycosuria, Elevated circulating creatinine concentration, Short stature,...	OMIM:615605
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Diarrhea, Gastroesophageal reflux, Failure to thrive, Constipation, Short stature, D...	ORPHA:35708
Grfoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97261
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Multiple l...	ORPHA:210548
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ...	ORPHA:2097
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Abdominal distention, Jejunoileal ulceration, Hepat...	ORPHA:436252
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Diarrhea, Decreased circulating carnitine concentrat...	ORPHA:71212
Parathyroid Carcinoma	Shortened QT interval, Abnormal parathyroid morphology, Nausea and vomiting, Hypophosphatemia, We...	ORPHA:143
Lipodystrophy, Familial Partial, Type 2	Acute pancreatitis, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:151660
Frontometaphyseal Dysplasia 2	Broad thumb, Cryptorchidism, Hip contracture, Talipes equinovarus, Feeding difficulties in infanc...	OMIM:617137
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Elevated circulating hepatic transaminase concentration, Umbilical hernia,...	OMIM:269700
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Pulmonic stenosis, Rectal f...	OMIM:115470
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concen...	OMIM:193100
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Hypotension, Right ventricular failure, Cardiogenic shock, Protracted...	ORPHA:97287
Systemic Capillary Leak Syndrome	Hypotension, Diarrhea, Myalgia, Arrhythmia, Weight loss, Pancreatitis, Constitutional symptom, Fa...	ORPHA:188
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Intrauterine growth retar...	OMIM:620501
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Cyanosis, Weight loss, Anorexia, Elevated circulating C-reactive prot...	ORPHA:1302
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Sepsis, Con...	ORPHA:537
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored...	ORPHA:31150
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Micrognathia, Increased bl...	OMIM:154230
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Recurrent respiratory infections, Bronchiectasis	OMIM:619468
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia...	ORPHA:309108
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Peptic ulcer, Osteomalacia, Multiple lipomas, Hypophosphatemia, Pancreatitis, Hy...	OMIM:600740
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomeg...	OMIM:266920
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Elevated circulating hepatic transaminase concentration, C...	ORPHA:36426
Mandibuloacral Dysplasia Progeroid Syndrome	Decreased fibular diameter, Postnatal growth retardation, Dysplasia of the femoral head, Microgna...	OMIM:619127
Fanconi Anemia, Complementation Group O	Short stature, Anal atresia, Rectal atresia	OMIM:613390
Polyarteritis Nodosa	Cardiomyopathy, Abnormality of the gastrointestinal tract, Weight loss, Raynaud phenomenon, Eleva...	ORPHA:767
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi...	ORPHA:453533
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec...	ORPHA:480536
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Japanese Encephalitis	Genu recurvatum, Diarrhea, Vomiting, Anorexia, Stiff neck, Elbow flexion contracture, Increased c...	ORPHA:79139
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Neutropenia, Genu varum, Osteopenia, Disproportionate short-limb short stature, Smal...	OMIM:271510
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Congestive heart failure, Splenomegaly, Mac...	OMIM:615512
Hyperlipoproteinemia, Type I	Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ...	OMIM:238600
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Hypoglycemia, Hypertrophic cardiomyopathy, Intrauterine growth retardat...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Decreased liver function, Hypoglycemia, Intrauterine growth retardation, Elevated...	OMIM:618839
Oculopharyngodistal Myopathy	High, narrow palate, Oral-pharyngeal dysphagia, Distal lower limb muscle weakness, Weight loss, T...	ORPHA:98897
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Arthrogryposis Multiplex Congenita 5	Hand clenching, Micrognathia, Acanthocytosis, Talipes equinovarus, Poikilocytosis, Hip dislocatio...	OMIM:618947
Sarcoidosis	Abnormal lymph node morphology, Arrhythmia, Weight loss, Erythema nodosum, Tubulointerstitial nep...	ORPHA:797
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short stature, Growth delay	OMIM:612563
Mowat-Wilson Syndrome	Aortic valve stenosis, Recurrent otitis media, Genu valgum, Cryptorchidism, Decreased body weight...	ORPHA:2152
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin...	ORPHA:159
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Feeding difficulties in infancy, Neutropenia, Hepatomegaly, Tachycardia, Methy...	OMIM:277400
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Polycystic liver disease, Elevated circulating crea...	OMIM:109130
Amyotrophic Lateral Sclerosis	Xerostomia, Nausea and vomiting, Cachexia, Dysphagia, Tongue atrophy	ORPHA:803
Mogs-Cdg	Decreased circulating IgG level, Retrognathia, Nasogastric tube feeding, Decreased circulating Ig...	ORPHA:79330
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Glycosuria, Elevated circulating creatin...	OMIM:614817
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intest...	ORPHA:92050
Distal Renal Tubular Acidosis	Aminoaciduria, Vomiting, Diarrhea, Rickets, Failure to thrive, Osteomalacia, Growth delay, Reduce...	ORPHA:18
Treacher-Collins Syndrome	Micrognathia, Cryptorchidism, Encephalocele, High palate, Rectovaginal fistula, Thyroid hypoplasi...	ORPHA:861
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Kyphomelic Dysplasia	Disproportionate short stature, Limitation of joint mobility, Radial bowing, Micromelia, Flared m...	OMIM:211350
Fabry Disease	Nausea and vomiting, Mitral regurgitation, Arrhythmia, Achalasia, Anorexia, Abdominal pain, Hyper...	ORPHA:324
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Undifferentiated Pleomorphic Sarcoma	Abnormality of the lower limb, Weight loss, Abnormal peritoneum morphology, Anorexia, Soft tissue...	ORPHA:2023
Catel-Manzke Syndrome	Ulnar deviation of the 2nd finger, Postnatal growth retardation, Micrognathia, Genu valgum, Crypt...	OMIM:616145
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbilirubinemia, Abnormal erythro...	ORPHA:288
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Spastic Paraplegia 84, Autosomal Recessive	Ankle flexion contracture, Leg muscle stiffness, Pes cavus, Knee flexion contracture, Hip contrac...	OMIM:619621
Ppoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97278
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co...	OMIM:235555
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Abdominal pain,...	ORPHA:563
Mednik Syndrome	Abnormal intestine morphology, Intrahepatic cholestasis, Decreased circulating ceruloplasmin conc...	ORPHA:171851
Localized Scleroderma	Vasculitis, Gastroesophageal reflux, Dental malocclusion, Abnormal facial skeleton morphology, Fa...	ORPHA:90289
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent viral infect...	ORPHA:420741
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Mercury Poisoning	Hypotension, Interstitial pneumonitis, Hypokalemia, Episodic abdominal pain, Episodic vomiting, A...	ORPHA:330021
Congenital Isolated Acth Deficiency	Hyponatremia, Hypotension, Fatigue, Hepatitis	ORPHA:199296
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Esophagitis, Amelia, Perineal fistula, Abnormal metacarpal morphology,...	ORPHA:2538
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Nausea and vomiting, Hyperammonemia, Keratoconjunctivitis...	ORPHA:79242
Fanconi Renotubular Syndrome 2	Osteopenia, Generalized aminoaciduria, Rickets, Glycosuria, Elevated circulating parathyroid horm...	OMIM:613388
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin...	OMIM:613095
Slc39A8-Cdg	Osteopenia, Cutaneous syndactyly of toes, Disproportionate short-limb short stature, Elbow flexio...	ORPHA:468699
Beta-Ketothiolase Deficiency	Hypotension, Vomiting, Diarrhea, Hypoglycemia, Hyperglycemia, Thrombocytosis, Leukocytosis, Hyper...	ORPHA:134
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Occipital Horn Syndrome	Capitate-hamate fusion, Growth delay, Decreased circulating ceruloplasmin concentration, Genu val...	OMIM:304150
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Vomiting, Gastroesophageal reflux, Growth delay, Elevated circulating creatinine concen...	OMIM:223900
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Chronic...	ORPHA:520
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis, Acrocy...	ORPHA:3165
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormal salivary gland morphology, Increased circulating I...	ORPHA:79078
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Peptic ulcer, Pituitary adenoma, Adrenocortical adenoma, Pituitary prolactin cel...	OMIM:131100
Alagille Syndrome 1	Short distal phalanx of finger, Hepatic failure, Elevated circulating hepatic transaminase concen...	OMIM:118450
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische...	OMIM:274150
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Neutropenia, Recurrent lower respiratory tract infections, Short metacarpal, Eczemat...	ORPHA:508542
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Elevated gamma-glutamyltransferase level, Diarrhea, Neoplasm of the ne...	ORPHA:100085
Interstitial Lung Disease 2	Alveolar cell carcinoma, Increased circulating antibody level, Cirrhosis, Pulmonary arterial hype...	OMIM:178500
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level	OMIM:620125
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Oral-pharyngeal dysphagia,...	ORPHA:95455
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Limitation of joint mobility, Postnatal growth retard...	ORPHA:576
Lesch-Nyhan Syndrome	Vomiting, Podagra, Hyperuricemia, Megaloblastic anemia, Short stature, Testicular atrophy, Dyspha...	OMIM:300322
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Perito...	ORPHA:32960
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Vomiting, Diarrhea, Failure to thrive, Glucose into...	OMIM:606721
Erdheim-Chester Disease	Abnormal epiphysis morphology, Congestive heart failure, Osteolysis, Osteomyelitis, Xanthelasma, ...	ORPHA:35687
Oculodentodigital Dysplasia	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Arrhythmia, Short h...	ORPHA:2710
Absent Radius-Anogenital Anomalies Syndrome	Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Neurofibromatosis Type 1	Neoplasm of the skin, Genu valgum, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Genu varu...	ORPHA:636
Pleural Mesothelioma	Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Hepatomegaly, Dysphagia	ORPHA:50251
Lassa Fever	Diarrhea, Sepsis, Shock, Nausea and vomiting, Jaundice, Conjunctivitis, Abdominal pain, Increased...	ORPHA:99824
Seckel Syndrome	Cone-shaped epiphysis, Sandal gap, Abnormal dental enamel morphology, Intrauterine growth retarda...	ORPHA:808
Familial Expansile Osteolysis	Hydroxyprolinuria, Pathologic fracture, Elevated circulating alkaline phosphatase concentration, ...	OMIM:174810
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H...	OMIM:179800
Fanconi Renotubular Syndrome 1	Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Elevated circulating alkaline phosphatase conce...	OMIM:134600
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Trigeminal neuralgia, Hypotension	ORPHA:91354
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Glomerulonephritis, Meningiti...	ORPHA:2968
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Cholera	Hypovolemic shock, Hypotension, Diarrhea, Vomiting, Aspiration pneumonia, Hypocalcemia, Hypokalem...	ORPHA:173
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Impaired pain sensation, Ganglioneuroblastoma, Narc...	ORPHA:293987
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age, Cyanosis	ORPHA:621
Fryns-Smeets-Thiry Syndrome	Micrognathia, Patellar aplasia, Joint hypermobility, Arachnodactyly, Cachexia, Short stature, Hip...	ORPHA:2058
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st...	ORPHA:1525
Focal Myositis	Myositis, Weight loss, Limitation of joint mobility, Elevated circulating creatine kinase concent...	ORPHA:48918
Follicular Lymphoma	Lymphoma, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Meningitis,...	ORPHA:545
Neu-Laxova Syndrome	Bifid uvula, Osteopenia, Rickets, Micromelia, Retrognathia, Osteomalacia, Hypogonadism, Intrauter...	ORPHA:2671
Vici Syndrome	Recurrent infections, Decreased circulating IgG level, Cardiomyopathy, Recurrent respiratory infe...	ORPHA:1493
Dyskeratosis Congenita, X-Linked	Carious teeth, Pancytopenia, Cryptorchidism, Hodgkin lymphoma, Acute myeloid leukemia, Cirrhosis,...	OMIM:305000
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid...	OMIM:619471
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Growth delay, Delayed eruption of teeth, Abnormal metaphysis morph...	ORPHA:667
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Intrauterine growth retardation, Hepat...	ORPHA:53693
Adrenocortical Carcinoma	Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre...	ORPHA:1501
Saccharopinuria	Hyperlysinuria, Hypercystinemia, Hyperammonemia, Hyperlysinemia, Abnormal circulating enzyme conc...	ORPHA:3124
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr...	OMIM:620138
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Abn...	ORPHA:2556
Esophageal Atresia	Clinodactyly, Esophagitis, Abnormal gastrointestinal tract morphology, Feeding difficulties in in...	ORPHA:1199
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Absent thumb, Short thumb, Failure to thrive, Decreased r...	OMIM:603467
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Malakoplakia	Diarrhea, Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the ...	ORPHA:556
Ethylene Glycol Poisoning	Hypotension, Vomiting, Congestive heart failure, Shock, Hypocalcemia, Gastritis, Prolonged QT int...	ORPHA:31826
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Recurrent otitis media, Reduced natu...	OMIM:608233
Interstitial Cystitis	Abnormality of tumor necrosis factor secretion, Urinary bladder inflammation, Abnormality of the ...	ORPHA:37202
Renal Tubular Acidosis, Proximal	Short stature, Elevated circulating creatinine concentration, Rickets, Osteomalacia	OMIM:179830
Huntington Disease	Weight loss, Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Decreased...	ORPHA:399
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Delayed eruption of teeth, Cone-shaped...	ORPHA:2484
Megaloblastic Anemia, Folate-Responsive	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:601775
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, U...	OMIM:608594
Scrub Typhus	Hypotension, Myalgia, Nausea and vomiting, Skin rash, Infectious encephalitis, Gangrene, Meningit...	ORPHA:83317
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Xanthelasma, Elevated cir...	ORPHA:30391
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Abnormal metatarsal morphology, Synovitis, Knee osteoarthritis, Iridocyclitis...	ORPHA:85408
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Cerebral hemorrhage, Positive regitine blocking test...	ORPHA:94080
Chromosome 5Q12 Deletion Syndrome	Hypotension, Decreased body mass index, Postnatal growth retardation, Macroglossia, Patent ductus...	OMIM:615668
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections	OMIM:603585
Cog2-Cdg	Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c...	ORPHA:435934
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Premature adrenarche, Clinodactyly, Postnatal growth retardation, Esophagitis, Micrognathia, Cryp...	ORPHA:96182
Rat-Bite Fever	Diarrhea, Lymphadenitis, Vomiting, Septic arthritis, Parotitis, Sepsis, Morbilliform rash, Skin r...	ORPHA:31205
Arterial Tortuosity Syndrome	Esophagitis, Arachnodactyly, Hip dislocation, Gastroesophageal reflux, Hypertrophic cardiomyopath...	ORPHA:3342
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Type I diabetes mellitus, Lymphopenia, Squamous cell carcinoma of the skin, Portal hy...	OMIM:620365
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Hypotension, Vomiting, Failure to thrive, Arrhythmia, Telangiectasia of ...	ORPHA:2135
Kearns-Sayre Syndrome	Third degree atrioventricular block, Cardiomyopathy, Sideroblastic anemia, Primary adrenal insuff...	OMIM:530000
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Abnormal circulating aldosterone, Decreased circulating renin l...	OMIM:300539
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Squamous cell carcinoma of the skin, Skin rash, Melanoma, Cachexia, Basal cell carcinoma, Short s...	ORPHA:220295
Hepatic Lipase Deficiency	Angina pectoris, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:614025
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Hypophosphatemia, Short stature, Bowing of the legs	OMIM:146350
Diamond-Blackfan Anemia 10	Growth delay, Micrognathia, Malar flattening, Macrocytic anemia, Steroid-responsive anemia, Retic...	OMIM:613309
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Vomiting, Intraalveolar phospholipid accumulati...	OMIM:615486
Hypophosphatasia, Adult	Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased su...	OMIM:146300
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Obesity Due To Sim1 Deficiency	Hypotension, Obesity, Postural hypotension with compensatory tachycardia	ORPHA:369873
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Abnormality of the calcaneus, Micrognathia, Median cleft pal...	ORPHA:40366
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Hypotension, Tachycardia, Stomatitis	ORPHA:79155
Obesity Due To Congenital Leptin Deficiency	Recurrent upper respiratory tract infections, Obesity, Orthostatic hypotension due to autonomic d...	ORPHA:66628
Giant Cell Arteritis	Vasculitis, Hepatic failure, Epistaxis, Mediastinal lymphadenopathy, Gastrointestinal infarctions...	ORPHA:397
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
17Q11 Microdeletion Syndrome	Glioma, Abnormality of the sphenoid sinus, Brainstem glioma, Brain neoplasm, Large hands, Leukemi...	ORPHA:97685
Autosomal Recessive Primary Microcephaly	Short stature, Abnormal cortical bone morphology, Growth delay	ORPHA:2512
Obesity Due To Leptin Receptor Gene Deficiency	Recurrent upper respiratory tract infections, Obesity, Orthostatic hypotension due to autonomic d...	ORPHA:179494
Colchicine Poisoning	Hypotension, Diarrhea, Vomiting, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Hyp...	ORPHA:31824
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Beckwith-Wiedemann Syndrome	Large placenta, Cryptorchidism, Hepatoblastoma, Feeding difficulties in infancy, Hepatomegaly, Ne...	ORPHA:116
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Pulmonary arterial hypertension, Weight loss, Bronchiectasis	ORPHA:1164
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno...	ORPHA:1486
Myotonic Dystrophy 2	Decreased circulating IgG level, Insulin insensitivity, Hypogonadism, Palpitations, Type II diabe...	OMIM:602668
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Anemia, Hyperten...	OMIM:174000
Acquired Hypertrichosis Lanuginosa	Neoplasm of the respiratory system, Neoplasm, Chronic diarrhea, Weight loss, Lymphadenopathy, Mac...	ORPHA:2221
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Diarrhea, Increased serum zinc, Skin rash, Hepatomegaly, Osteoporosis	OMIM:601979
Pitt-Hopkins Syndrome	Small hand, Supernumerary nipple, Postnatal growth retardation, Esophagitis, Cryptorchidism, Hodg...	ORPHA:2896
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:300861
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Acquired Methemoglobinemia	Vomiting, Palpitations, Cyanosis, Methemoglobinemia, Abdominal pain, Arrhythmia, Syncope, Tachyca...	ORPHA:464453
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Nephronophthisis 2	Elevated circulating creatinine concentration, Chronic tubulointerstitial nephritis, Pulmonary in...	OMIM:602088
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Vomiting, Hyperphosphatemia, Hypotension, Decreased liver function, Abnormal pul...	ORPHA:466650
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic...	OMIM:614946
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Contracture of the distal interphalangeal joint of the fingers, Ove...	ORPHA:83617
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activity, D...	OMIM:277410
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Abnormal femoral metaphysis morphology...	ORPHA:668
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Recurrent otitis media, Intestinal malrotation, Chronic sinus...	ORPHA:244
Leptospirosis	Uveitis, Diarrhea, Hypotension, Hepatitis, Subconjunctival hemorrhage, Pulmonary hemorrhage, Myal...	ORPHA:509
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Cryptorchidism, Abnormal metacarpal morphology, Large hands, Aplasia/...	ORPHA:2636
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Retrognathia, Persistence of hemoglobin F, Micrognathia, Joint hypermobility, Short stature	OMIM:617101
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short femur, Short umbilical cord, Short humerus, Exaggerated startle response, Short stature, Dy...	OMIM:618367
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Vomiting, Growth delay, Glycosuria, Failure to thrive, Elevated circ...	ORPHA:411634
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
African Trypanosomiasis	Diarrhea, Arrhythmia, Weight loss, Arthralgia, Urinary incontinence, Choreoathetosis, Somatic sen...	ORPHA:3385
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Hyperphosphatemia, Growth delay, Decreased testicular size, Hypocalcemic tetany, P...	ORPHA:93325
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Nausea and vomiting, Hyponatremia, Weight loss, Anorexia, Diabetes i...	ORPHA:178029
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Metaphyseal irregularity, Elevated circulating parathyroid hormone level, Failure ...	OMIM:239200
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Aspiration pneumonia, Abnormal gastrointestinal tract morphology, Vulvar neoplasm, Weight loss, A...	ORPHA:1018
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Recurrent aspiration pneumonia, Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, ...	ORPHA:280633
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland, Decreased circulating ceruloplasmin concentration, Elevated circulating he...	OMIM:617395
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Decreased testicular size, Hypercholesterolemia, Laryngeal carcinoma, P...	OMIM:610644
Acute Radiation Syndrome	Hypotension, Inflammatory abnormality of the skin, Vomiting, Diarrhea, Interstitial pneumonitis, ...	ORPHA:454831
Inhalational Anthrax	Hypotension, Vomiting, Sepsis, Fatigue, Internal hemorrhage	ORPHA:247257
Copper Deficiency, Familial Benign	Anemia, Seborrheic dermatitis, Decreased circulating copper concentration, Failure to thrive	OMIM:121270
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Congestive heart failure, Squamous cell carcinoma of the skin, Papillary r...	ORPHA:363618
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Mediastinal lymphadenopathy, Adrenocortical adenoma, Adren...	ORPHA:139411
Choreoacanthocytosis	Peroneal muscle atrophy, Dilated cardiomyopathy, Increased circulating lactate dehydrogenase conc...	ORPHA:2388
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Chest pain, Esophagitis, Chest tightness, Recurrent respiratory i...	ORPHA:3348
Hereditary Hyperekplexia	Hiatus hernia, Esophagitis, Gastroesophageal reflux	ORPHA:3197
Anaplastic Thyroid Carcinoma	Goiter, Anaplastic thyroid carcinoma, Neoplasm of the skeletal system, Tracheoesophageal fistula,...	ORPHA:142
Primary Familial Polycythemia	Abdominal pain, Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Microphthalmia, Syndromic 1	High, narrow palate, Iris coloboma, Recurrent otitis media, Ciliary body coloboma, Aganglionic me...	OMIM:309800
Infantile Nephropathic Cystinosis	Aminoaciduria, Vomiting, Rickets, Glycosuria, Failure to thrive, Abnormality of thyroid physiolog...	ORPHA:411629
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Inter...	ORPHA:330001
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular...	ORPHA:85184
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Mandibular prognathia, Bifid femur, Carious teeth, Failure of eruption of perm...	ORPHA:2769
Neuroblastoma, Susceptibility To, 1	Diarrhea, Failure to thrive, Ganglioneuroblastoma, Ganglioneuroma, Weight loss, Neuroblastoma, An...	OMIM:256700
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Lethal Congenital Contracture Syndrome 10	Stiff neck, Overlapping fingers, Micrognathia, Femoral bowing, Intrauterine growth retardation, H...	OMIM:617022
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Sepsis, Bradycardia, Tachycardia, Cardiac arrest	ORPHA:70587
Malignant Peritoneal Mesothelioma	Ileus, Neoplasm, Peritonitis, Weight loss, Abdominal distention, Abdominal pain, Pedal edema	ORPHA:168811
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Osteomalacia, Nausea and vomiting, Episodi...	ORPHA:405
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Intraute...	ORPHA:3208
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Pes cavus, Elevated circulating creatine kinase concentration, Conjunctival telangiectasia, Incre...	OMIM:606002
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension, Vomiting, Failure to thrive, Hyponatremia, Hyperkalemia, Increased circulating renin...	ORPHA:90791
Irida Syndrome	Abnormal intestine morphology, Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay	OMIM:612527
Behçet Disease	Nausea and vomiting, Mitral regurgitation, Weight loss, Arthralgia, Ataxia, Anorexia, Abdominal p...	ORPHA:117
Alkaptonuria	Aortic valve stenosis, Aminoaciduria, Joint stiffness, Reduced bone mineral density, Mitral regur...	ORPHA:56
Autosomal Dominant Polycystic Kidney Disease	Recurrent urinary tract infections, Pituitary growth hormone cell adenoma, Elevated circulating c...	ORPHA:730
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ...	OMIM:619638
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypercalcemia, Hypo...	OMIM:612089
Aa Amyloidosis	Hypotension, Vomiting, Malnutrition, Malabsorption, Nausea, Abdominal pain, Chronic diarrhea	ORPHA:85445
Mednik Syndrome	Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis, Increa...	OMIM:609313
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Intrauterine growth retardation, Cryptorchidism, Macrocytic anemia, Long fingers, Sh...	OMIM:614294
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma...	ORPHA:85436
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of...	OMIM:618223
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells, Lymphocyti...	ORPHA:133
Autosomal Dominant Hypocalcemia	Hypotension, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Congestive heart failure, ...	ORPHA:428
Chromomycosis	Recurrent bacterial infections, Keratoconjunctivitis sicca, Keratitis	ORPHA:182
Eec Syndrome	Toe syndactyly, Xerostomia, Keratitis, Lymphoma, Finger syndactyly, Decreased response to growth ...	ORPHA:1896
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Carious teeth, Natal tooth, Clinodactyly, Branchial cyst, Ankyloglossia, Micrognathia, Prolonged ...	OMIM:620186
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Nausea and vomiting...	ORPHA:91347
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Arrhythmia, Constipation, H...	ORPHA:163746
Aspartylglucosaminuria	Carious teeth, Umbilical hernia, Joint stiffness, Malabsorption, Abnormal cortical bone morpholog...	ORPHA:93
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating dehy...	ORPHA:90794
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Limitation of joint mobility, Ankyloglossia, Limited hip movement, Microgn...	ORPHA:740
Stüve-Wiedemann Syndrome	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Feeding...	ORPHA:3206
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Short stature	OMIM:612528
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo...	ORPHA:160148
Alexander Disease	Hypotension, Failure to thrive, Recurrent singultus, Chorea, Nausea and vomiting, Infectious ence...	ORPHA:58
Erythrocytosis, Familial, 2	Hypotension, Failure to thrive, Hemangioma, Pulmonary arterial hypertension, Fatigue, Cerebral he...	OMIM:263400
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve...	OMIM:137920
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Triphalangeal thumb, Reticuloc...	OMIM:615550
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Renal Tubular Acidosis Iii	Hypokalemia, Rickets, Osteomalacia	OMIM:267200
Erythema Elevatum Diutinum	Skin rash, Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry...	OMIM:609945
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Abnormality of the thyroid gland, Short hard palate, Cachexia, Anorexia, Short...	ORPHA:1969
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Dilated cardiomyopathy, Intestinal pseudo-obstruction, Gastroparesis, Absent Achilles reflex, Pes...	OMIM:607459
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Elbow ankylosis, Abnormal metaca...	ORPHA:2658
Hereditary Angioedema Type 1	Hypotension, Diarrhea, Vomiting, Paresthesia, Intestinal edema, Nausea, Abnormal soft palate morp...	ORPHA:100050
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Retrognathia, Gastrostomy tube feeding in infancy, Constipation, Thrombocytopenia, High noncerulo...	ORPHA:457351
Mismatch Repair Cancer Syndrome 3	Lymphoma, Lisch nodules, Neoplasm of the rectum, Astrocytoma, T-cell lymphoma, Glioblastoma multi...	OMIM:619097
Medullary Thyroid Carcinoma	Diarrhea, Elevated circulating calcitonin concentration, Pheochromocytoma, Neoplasm of the skelet...	ORPHA:1332
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes...	OMIM:615812
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Hypercalcemia, Infantile, 1	Vomiting, Failure to thrive, Hypercalcemia, Weight loss, Decreased circulating parathyroid hormon...	OMIM:143880
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Carious teeth, Deep plantar creases, Failure to thrive, U...	ORPHA:2834
Post-Traumatic Pituitary Deficiency	Hypotension, Fatigue, Delayed puberty, Growth delay	ORPHA:95619
Chronic Hiccup	Weight loss, Malnutrition	ORPHA:396
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, High palate, Patent duc...	OMIM:608328
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Increased circulating antibody level, Pustule, Hypothyroidism, Hyperthyroid...	ORPHA:48377
Riddle Syndrome	Short stature, Decreased circulating IgG level	OMIM:611943
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Frank-Ter Haar Syndrome	Osteopenia, Growth delay, Dental malocclusion, Flared metaphysis, Cortical irregularity, Microgna...	OMIM:249420
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o...	ORPHA:2839
Alström Syndrome	Testicular fibrosis, Elevated gamma-glutamyltransferase level, Decreased circulating T4 concentra...	ORPHA:64
Short Syndrome	Insulin resistance, Severe short stature, Abnormal mandible morphology, Abnormal dental enamel mo...	ORPHA:3163
Restrictive Dermopathy	Osteopenia, Microcolon, Natal tooth, Structural foot deformity, Camptodactyly of finger, Small pl...	ORPHA:1662
Kenny-Caffey Syndrome, Type 2	Severe short stature, Hyperphosphatemia, Hypoparathyroidism, Hypocalcemia, Abnormality of the med...	OMIM:127000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Cyanosis, Methemoglobinemia, Growth delay, Decreased circulating nicotinamide adeni...	OMIM:250800
Revesz Syndrome	Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Intrauterine growth retardation, ...	OMIM:268130
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Sinus tachycardia, Congestive heart failure, Cerebral hemorrhage, ...	ORPHA:276621
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos...	OMIM:258900
Nephroblastoma	Neoplasm, Nephroblastoma, Neoplasm of the liver, Weight loss, Lymphadenopathy, Abdominal pain, Hy...	ORPHA:654
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Split hand, Short stature, Foot polydactyly, Duodenal atresia, Phocomelia	ORPHA:3004
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi...	ORPHA:679
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Arachnodactyly, Feeding difficulties in infancy, Dysphagia, Hypoplasia of the...	ORPHA:500150
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Oxygen desaturation on exertion, Hypoxemia, Stippled calcification in ...	ORPHA:60025
Patent Urachus	Abdominal pain, Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Hereditary Pheochromocytoma-Paraganglioma	Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Sinus tachycardia, Congestive heart ...	ORPHA:29072
9Q33.3Q34.11 Microdeletion Syndrome	Epistaxis, Bilateral coxa valga, Patellar hypoplasia, Esophagitis, Cryptorchidism, Patellar aplas...	ORPHA:495818
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Chronic Graft Versus Host Disease	Diarrhea, Xerostomia, Pancytopenia, Weight loss, Anorexia, Abdominal pain, Dysphagia, Gastroesoph...	ORPHA:99921
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Broad hallux, Failure to thrive, Umbilical hernia, Decreased cir...	OMIM:617062
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Myalgia, Gait ataxia, Dysmetria, Hypertension, Ataxia, Dysphagia, Dysesthesia, Bowel...	ORPHA:93256
Chediak-Higashi Syndrome	Periodontitis, Recurrent systemic pyogenic infections, Recurrent infections, Recurrent bacterial ...	OMIM:214500
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Severe viral infection, Skin rash...	ORPHA:79128
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	High, narrow palate, Bifid uvula, Long hallux, Cryptorchidism, Talipes equinovarus, Thin bony cor...	OMIM:309583
Asthma, Short Stature, And Elevated Iga	Short stature, Increased circulating IgA level	OMIM:208600
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Dysphagia, Increased susceptibility to fractures, Aspiration pneumonia	ORPHA:216866
Myeloma, Multiple	Paraproteinemia, Multiple myeloma	OMIM:254500
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Cryptorchidism, Elevated circulating alanine aminotrans...	OMIM:243800
Orofaciodigital Syndrome Type 4	High, narrow palate, Bifid uvula, Severe short stature, Failure to thrive, Recurrent respiratory ...	ORPHA:2753
Attrv30M Amyloidosis	Atrioventricular block, Diarrhea, Cardiomyopathy, Arrhythmia, Constipation, Weight loss	ORPHA:85447
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Aortic valve stenosis, Vomiting, Recurrent viral infections, Impaired T cell f...	OMIM:176690
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Abnormal dental enamel morphology, Squamo...	ORPHA:79430
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Severe short stature, Elevated circulating creatinine concentration	OMIM:242530
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Diarrhea, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation, At...	OMIM:608643
Spondyloocular Syndrome	Osteopenia, Overlapping toe, Decreased body weight, Arachnodactyly, Femur fracture, Long toe, Pes...	OMIM:605822
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Primary Fanconi Renotubular Syndrome	Hypouricemia, Generalized aminoaciduria, Decreased circulating carnitine concentration, Glycosuri...	ORPHA:3337
Malt Lymphoma	Posterior uveitis, Abnormality of the thyroid gland, Nausea and vomiting, B-cell lymphoma, Consti...	ORPHA:52417
Mannosidosis, Alpha B, Lysosomal	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:248500
Adenine Phosphoribosyltransferase Deficiency	Abdominal pain, Elevated circulating creatinine concentration	OMIM:614723
Thalidomide Embryopathy	Insulin resistance, Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humeru...	ORPHA:3312
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Second degree atrioventricular block, Graves di...	ORPHA:79102
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Skin rash, Keratoconjunctivi...	OMIM:617321
Hellp Syndrome	Hypotension, Vomiting, Shoulder pain, Epigastric pain, Increased body weight, Nausea, Fatigue, In...	ORPHA:244242
Pauci-Immune Glomerulonephritis	Arteritis, Elevated circulating creatinine concentration, Pulmonary hemorrhage, Scleritis, Abnorm...	ORPHA:93126
8P23.1 Microdeletion Syndrome	Broad thumb, Growth delay, Hypertrophic cardiomyopathy, Obesity, Micrognathia, Intrauterine growt...	ORPHA:251071
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Vomiting, Abnormal circulating cholesterol concentration, Failure to thrive, Hyponat...	ORPHA:168558
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Diarrhea, Vomiting, Hypomagnesemia, Small for...	OMIM:601678
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss, Diabetes insipidus, Growth delay	ORPHA:30925
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Recurrent fractures, Rickets, Glycosuria	OMIM:268315
Encephalitis Lethargica	Recurrent viral infections, Stiff neck, Increased circulating antibody level, Bradycardia, Bowel ...	ORPHA:83600
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypotension, Vomiting, Abnormal circulating cholesterol concentration, Failure to thrive, Hyponat...	ORPHA:289548
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Bullous Pemphigoid	Eczematoid dermatitis, Psoriasiform dermatitis, Weight loss, Recurrent infections, Diabetes mellitus	ORPHA:703
Isaacs Syndrome	Weight loss, Calf muscle hypertrophy	ORPHA:84142
Acute Transverse Myelitis	Severe viral infection, Invasive parasitic infection, Gastroparesis, Disseminated nontuberculous ...	ORPHA:139417
Systemic Lupus Erythematosus	Discoid lupus rash, Cheilitis, Leukopenia, Malar rash, Hypertension, Decreased circulating comple...	ORPHA:536
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Hypoplasia of the maxilla, Broad phalanges of the hand, Joint stiffness, M...	OMIM:277600
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the eye...	ORPHA:33577
Papillorenal Syndrome	Short stature, Elevated circulating creatinine concentration, Hypertension, Joint hypermobility	OMIM:120330
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Sepsis, Umbilical hernia, Intestinal malrotation, Neoplasm of the heart, Nausea and v...	ORPHA:2241
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Malnutrition, Schwannoma, Mandibular pain, Neoplasm, Syncope, Weight l...	ORPHA:221098
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Impaired T cell function, Hypocalcemia, Submucous cleft hard palate...	OMIM:192430
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Diarrhea, Disseminated nontuberculous mycobacterial ...	ORPHA:411703
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis	ORPHA:86884
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Gout, Hyperuricemia	ORPHA:79233
Imerslund-Grasbeck Syndrome 2	Diarrhea, Recurrent urinary tract infections, Megaloblastic anemia, Anemia, Growth delay	OMIM:618882
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Diarrhea, Vomiting, Hypomagnesemia, Small for...	OMIM:241200
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Neuroendocrine neoplasm, Anorex...	ORPHA:100086
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Hypotension, Obesity, Intrauterine growth retardation	ORPHA:439822
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Weight loss, Increased circulat...	OMIM:613239
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Micrognathia, Femoral bowing, Joint hypermobility, Bowing of the long bones, Th...	OMIM:617952
Huntington Disease-Like 2	Weight loss	OMIM:606438
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad...	OMIM:155310
Serotonin Syndrome	Hepatic failure, Diarrhea, Hypotension, Mydriasis, Nausea, Tachycardia, Hypertension	ORPHA:43116
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Fraser Syndrome 2	Intestinal malrotation, Hypoplasia of the thymus, Cutaneous syndactyly, Rectal atresia, Abdominal...	OMIM:617666
Peritoneal Cystic Mesothelioma	Neoplasm, Peritonitis, Constipation, Weight loss, Abdominal distention, Abdominal pain	ORPHA:168816
Pyomyositis	Testicular teratoma, Sepsis, Leukocytosis, Myositis, Weight loss, Recurrent infections, Sudden ca...	ORPHA:764
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Microcolon, Ileal atresia, Pyelonephritis, Peritonitis, Abdominal distention...	OMIM:619351
Bartter Syndrome, Type 3	Hypokalemia, Hypotension, Hyperchloriduria, Increased circulating renin level	OMIM:607364
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Pancreatic hypoplasia, Glycosuria, Umbilical hernia, Intestinal ma...	OMIM:600001
Primary Hyperoxaluria Type 1	Failure to thrive, Recurrent urinary tract infections, Hyperoxaluria, Abnormal circulating enzyme...	ORPHA:93598
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Large for gestational age, Micrognathia, Malar flattening, Hip contrac...	OMIM:300868
Nocardiosis	Lymphadenitis, Scleritis, Weight loss, Anorexia, Meningitis, Endocarditis, Unusual CNS infection,...	ORPHA:31204
Congenital Fiber-Type Disproportion Myopathy	Aspiration pneumonia, Feeding difficulties, Micrognathia, Hip contracture, Talipes equinovarus, F...	ORPHA:2020
Graves Disease	Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Weight loss, Inc...	OMIM:275000
Generalized Arterial Calcification Of Infancy	Osteomalacia, Adrenal calcification, Pancreatic calcification, Abnormality of the knee, Fused cer...	ORPHA:51608
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:261740
Oligomeganephronia	Branchial cyst, Elevated circulating creatinine concentration, Micrognathia, Hypertension, Small ...	ORPHA:2260
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Autoimmune Pulmonary Alveolar Proteinosis	Intraalveolar phospholipid accumulation, Increased circulating lactate dehydrogenase concentratio...	ORPHA:747
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Conjunctival hamartoma, Weight loss, Erythroderma, Poor appetite	ORPHA:312
Senior-Loken Syndrome 1	Anemia, Elevated circulating creatinine concentration	OMIM:266900
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m...	ORPHA:71493
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Abnormal circulating enzyme concentration, Fail...	ORPHA:35706
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Weight loss...	OMIM:608710
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe...	OMIM:250790
Carney Complex	Follicular thyroid carcinoma, Increased body weight, Neoplasm of the rectum, Neoplasm of the phar...	ORPHA:1359
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Palpitations, Hypokalemia, Weight loss, Hyperthyroidism, Tachycardia	OMIM:188580
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Huntington Disease-Like 1	Abnormal shoulder morphology, Weight loss	ORPHA:157941
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Acute Liver Failure	Pain insensitivity, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Hypotension, Shoc...	ORPHA:90062
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Elevated cir...	OMIM:164310
Niemann-Pick Disease Type C	Hepatic failure, Aspiration pneumonia, Narcolepsy, Chorea, Gastrostomy tube feeding in infancy, P...	ORPHA:646
Acrodermatitis Enteropathica	Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Sho...	ORPHA:37
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ...	ORPHA:35710
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Cr...	OMIM:276820
Narcolepsy 7	Narcolepsy, Obesity	OMIM:614250
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy	ORPHA:99868
Oromandibular Dystonia	Abnormality of the temporomandibular joint, Weight loss, Dysphagia, Abnormal mandible morphology	ORPHA:93958
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration, Hypertension, Cryoglobulinemia	OMIM:123550
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypoxemia, Weight loss, Bronchiectasis, Clubbing	ORPHA:79127
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Psoriasiform dermatitis, Abnormality of T cell physiology, Hypocalcemia, Severe postnatal growth ...	ORPHA:2237
Norrie Disease	Failure to thrive, Cryptorchidism, Malar flattening, Neoplasm of the eye, Cachexia, Delayed puber...	ORPHA:649
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Episcleritis, Scleritis, Agan...	ORPHA:2273
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Urinary incontinence, Narcolepsy, Ataxia	ORPHA:314404
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Intestinal malrotation, Microcolon, Portal hypertension, Hepatic failure	OMIM:619431
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy, Ataxia	OMIM:604121
Gastrointestinal Stromal Tumor	Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Large hands, D...	OMIM:606764
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Visceral angiomatosis, Retinal telangiect...	ORPHA:774
Prolactinoma	Hypotension, Vomiting, Nausea and vomiting, Fatigue, Delayed puberty	ORPHA:2965
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration, Pes planus	ORPHA:521411
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Vomiting, Malnutrition, Pancreatic adenocarcino...	ORPHA:103918
Zinc Deficiency, Transient Neonatal	Eczematoid dermatitis, Decreased serum zinc	OMIM:608118
Klatskin Tumor	Jaundice, Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Abdominal pain, Extrahe...	ORPHA:99978
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Renal Nutcracker Syndrome	Nausea, Syncope, Weight loss, Orthostatic hypotension, Anemia, Abdominal pain, Tachycardia	ORPHA:71273
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Overlapping toe, Cyanosis, Systolic heart murmur	OMIM:617478
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections, Pneumonia	ORPHA:99104
Pemphigus Vulgaris	Feeding difficulties in infancy, Weight loss, Recurrent infections, Recurrent cutaneous abscess f...	ORPHA:704
Liposarcoma	Abdominal pain, Sarcoma, Weight loss, Nausea and vomiting	ORPHA:69078
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Chemodectoma, Palpitations, Hypertension associated with pheochro...	OMIM:115310
Cysticercosis	Stiff neck, Infectious encephalitis, Increased circulating antibody level, Iridocyclitis, Increas...	ORPHA:1560
Fatal Familial Insomnia	Constipation, Dysphagia, Weight loss	OMIM:600072
Narcolepsy 1	Narcolepsy	OMIM:161400
Narcolepsy 3	Narcolepsy	OMIM:609039
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Sepsis, Abdominal distention	OMIM:619362
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Recurrent respiratory infections	OMIM:614748
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections, Pneumonia	ORPHA:99103
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Supravalvular aortic stenosis, Mitral regurgitation, Hep...	ORPHA:391665
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve stenosis, Aortic regurgitation, Increased circulating antibody level	OMIM:114065
Non-Acquired Panhypopituitarism	Hypotension, Pituitary dwarfism, Constipation, Delayed puberty, Fatigue, Short stature, Growth delay	ORPHA:90695
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception	OMIM:175510
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Glycosuria, Failure to thriv...	ORPHA:99885
Sacral Defect With Anterior Meningocele	Constipation, Rectal abscess, Meningitis, Sacral lipoma, Back pain	OMIM:600145
Goodpasture Syndrome	Pulmonary hemorrhage, Cyanosis, Weight loss, Glomerulonephritis, Increased blood urea nitrogen, A...	OMIM:233450
Hereditary Late-Onset Parkinson Disease	Orthostatic hypotension due to autonomic dysfunction, Weight loss, Dysphagia, Chronic constipation	ORPHA:411602
Hereditary Orotic Aciduria	Recurrent respiratory infections, Patent ductus arteriosus, Impaired T cell function	ORPHA:30
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Thin bony cortex...	OMIM:619727
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypotension, Median cleft palate, Pituitary dwarfism, Constipation, Delayed puberty, Fatigue, Gro...	ORPHA:95494
Perry Syndrome	Weight loss	OMIM:168605
Faciocardiomelic Syndrome	Osteopenia, Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Large for gestati...	OMIM:612731
Penile Agenesis	Anorectal anomaly, Anal atresia, Tracheoesophageal fistula, Rectal fistula	ORPHA:49
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We...	ORPHA:424
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
Truncus Arteriosus	Aortic regurgitation, Aplasia/hypoplasia involving bones of the extremities, Intrauterine growth ...	ORPHA:3384
Pancreatoblastoma	Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Jaundice, Weight lo...	ORPHA:677
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, We...	ORPHA:99819
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent aspiration pneumonia, Fasciitis, Osteomyelitis, Septic arthritis, Recurrent Staphylococ...	ORPHA:642
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Parkinson Disease 4, Autosomal Dominant	Weight loss, Orthostatic hypotension	OMIM:605543
Acquired Central Diabetes Insipidus	Diabetes insipidus, Weight loss	ORPHA:95626

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 Il10

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 Il10.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Il10rb^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Il10rb^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Il10rb^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Il10rb^{tm1a(KOMP)Wtsi}	PMC5827107

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Il10^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Il10^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Il10^{tm41047(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Il10^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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