banner
Genes Phenotypes Help, News, Blog

Gene: Il10 MGI:96537

Log in to follow
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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rheumatoid Arthritis
Fatigue, Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Arthralg... OMIM:180300
Behçet Disease
Myositis, Anorexia, Pulmonary embolism, Myocardial infarction, Infectious encephalitis, Meningiti... ORPHA:117
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, Lymphadenop... ORPHA:536

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 29
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
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Primary Sclerosing Cholangitis
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hy... ORPHA:171
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Feeding difficulties in infancy, Increased T cell count, Pedal edema, Increased circu... ORPHA:98813
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Microcytic anemia, Iron deficiency anemia, Protein-losing ent... ORPHA:398063
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... OMIM:613953
Immunodeficiency, Common Variable, 11
Fatigue, Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Increased circulat... OMIM:615767
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recu... OMIM:300635
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Iro... ORPHA:37042
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Vomiting, Hypocalcemia, Short stature, Abdominal pain, Osteoporosis, Dela... OMIM:212750
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mandibular prognathia, Short stature, Elevated circulating C-reactive protein concentration, Micr... OMIM:619750
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:618204
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb... OMIM:604416
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Villous atrophy, Pancytopenia, Skin rash, Short stature, Elevated circulating ... OMIM:616050
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Craniosynostosis, Recurr... OMIM:147060
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Decreased/absent ankle reflexes, Sepsis, Incr... ORPHA:443811
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Osteomyelitis, Increased circulating lacta... ORPHA:232
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Vomiting, Hypothyroidism, Hepatomega... OMIM:226300
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Sepsis, Recurrent hypoglycemia, Hypoalbuminemia, Gastr... ORPHA:79324
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Immunodeficiency 70
Decreased circulating total IgG, Chronic fatigue, Furuncle, Celiac disease, Decreased circulating... OMIM:618969
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Arachnodactyly, Short stature, Microcytic an... OMIM:619013
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation o... OMIM:614700
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Microcytic anemia, Micrognathia, Recurrent viral infecti... ORPHA:2959
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent viral infections, Squamous cell carcinoma, Increased circulating IgG level, Disseminate... OMIM:243700
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Hypoplasia of the femoral head, Pn... OMIM:209950
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Increased ci... OMIM:605258
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Elevated circulating crea... OMIM:616809
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hypothyroidism, H... ORPHA:231226
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched m... OMIM:619126
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... ORPHA:424019
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... OMIM:618963
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Eczema, Craniosynostosis, Keratitis, Increased ci... OMIM:618523
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Asthma, Increased circulating IgE level, Chronic diarrhea, Atopic dermat... OMIM:617638
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Impaired T cell function, Inflammation of the... OMIM:614576
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Aspergillosis
Sinusitis, Abnormal long bone morphology, Intracranial hemorrhage, Cough, Neutropenia, Infectious... ORPHA:1163
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro... OMIM:209920
H Syndrome
Microcytic anemia, Psoriasiform dermatitis, Short stature, Recurrent pharyngitis, Bronchiectasis,... ORPHA:168569
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer fl... OMIM:610539
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... OMIM:606367
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Hepatomegaly, Short stature, Elevated circulating aspartate ami... OMIM:257200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Abse... ORPHA:277
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of ... ORPHA:231214
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... ORPHA:100079
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pa... OMIM:269840
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Vomiting, Hepatic fibr... ORPHA:264580
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral d... ORPHA:77297
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... OMIM:304790
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Micrognathia, Increas... OMIM:600462
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymph... ORPHA:3261
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Tubulointerstitial... ORPHA:330015
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... OMIM:608957
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Chronic... OMIM:618805
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju... OMIM:619868
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Micrognathia, High palate, Bronchiectasis, Methicillin-resistant Staphylococcus aureus infection,... OMIM:618282
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea,... OMIM:619281
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Disseminated cutaneous warts, Abnormal small intestinal villus morphology, H... ORPHA:90362
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... ORPHA:906
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... ORPHA:811
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
High palate, Neutropenia, Decreased circulating IgG level, Persistence of primary teeth, Supernum... OMIM:619752
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, High, narrow palate, Rectal... ORPHA:79076
Immunodeficiency 37
Colitis, Recurrent infections, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recu... OMIM:613501
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Skin rash, Hepatomegaly OMIM:619175
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Selective Igm Deficiency
Fasciitis, Non-Hodgkin lymphoma, Recurrent herpes, Recurrent staphylococcal infections, Lymphaden... ORPHA:331235
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Elevat... ORPHA:449400
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Refractory anemia with ringed sideroblasts, Neutropenia, Erythroid hyperplasia... ORPHA:75564
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Increas... OMIM:618534
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bac... OMIM:612692
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Elevated circu... ORPHA:90051
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Oropharyngeal squamous cell carcinoma, Recurrent herpes, T lymphocyt... ORPHA:391487
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Increased body weight, ... ORPHA:79240
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce... OMIM:603552
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... OMIM:617241
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent bacterial infections, Recurrent upper an... OMIM:608106
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Re... OMIM:620282
Esophagitis, Eosinophilic, 2
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Failure to thrive, Vomiting, Esophagitis, Dysphagia OMIM:610247
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:601859
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Decreased circulating T4 concentration, Cryptorchidism, Abdominal distention, Diarr... OMIM:608104
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic st... ORPHA:79259
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Small ... OMIM:612073
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Mitochondrial Neurogastrointestinal Encephalomyopathy
Poor appetite, Gastrointestinal dysmotility, Gastroesophageal reflux, Vomiting, Macrovesicular he... ORPHA:298
Wolcott-Rallison Syndrome
Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno... ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Villous atrophy, Feeding difficulties in infancy, Flexion contracture, Hypoalbuminemi... OMIM:212065
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Delayed eruption of teeth, Osteomyelitis, Skin rash... ORPHA:2314
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio... OMIM:618459
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... OMIM:607594
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, B-cell lymphoma, A... OMIM:102700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 58
Colitis, Chronic otitis media, Fatigue, Recurrent cutaneous abscess formation, Short stature, Chr... OMIM:618131
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Abnor... OMIM:619573
Symptomatic Form Of Hfe-Related Hemochromatosis
Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypog... ORPHA:465508
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Whipple Disease
Myositis, Anorexia, Myocardial infarction, Pedal edema, Uveitis, Cough, Infectious encephalitis, ... ORPHA:3452
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Metaphyseal widening, Flexion contracture, Sepsis, Leukopenia, Hypoalbumine... OMIM:617303
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... OMIM:618394
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal... ORPHA:90038
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,... ORPHA:2298
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, A... ORPHA:90363
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Abnormal isohemagglutinin level, ... ORPHA:99843
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... OMIM:619773
Punctate Palmoplantar Keratoderma Type 1
Pain, Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neop... ORPHA:79501
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Malabsorption, Tapered finger, Splenomegaly, Abdomi... ORPHA:2930
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Diamond-Blackfan Anemia
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal th... ORPHA:124
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Failure to thrive, Recurrent skin infections, ... OMIM:256500
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Alg6-Cdg
Abnormal circulating enzyme concentration or activity, Puberty and gonadal disorders, Jaundice, D... ORPHA:79320
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... OMIM:618048
Hepatoportal Sclerosis
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... ORPHA:64743
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... ORPHA:158057
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Tachypnea, Reduced bone mineral density, Gastroesophageal reflux, High palate, Hypoal... OMIM:613658
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Chronic fatigue, Glomerulonephritis, Spider hemangi... ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Failure to thrive, Hepatomegaly, Conjugated ... OMIM:607765
Cog4-Cdg
Neonatal sepsis, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypercholesterole... ORPHA:263501
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Capillary ... ORPHA:508533
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Glossoptosis, Neoplasm, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic oti... ORPHA:47
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Blue Rubber Bleb Nevus
Skin rash, Microcytic anemia, Visceral angiomatosis, Cavernous hemangioma, Intestinal bleeding, G... ORPHA:1059
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Atransferrinemia
Congestive heart failure, Abnormality of the liver, Hypochromic anemia, Atransferrinemia OMIM:209300
Temple Syndrome
Micrognathia, Flexion contracture, High palate, Bifid uvula, Short stature, Overweight, Cryptorch... OMIM:616222
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism... ORPHA:3260
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Sepsis, I... OMIM:301000
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Gastrointestinal dysmotility, Bloody diarrhea, Hypoalbuminemia, Cough, Constrictiv... ORPHA:67
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Short stature, Eczema, Celiac disease, Postnatal gr... OMIM:618985
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Lymphadenitis, Inflammation of the large inte... OMIM:615895
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Micrognathia, Postnatal growth retard... ORPHA:254531
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Pedal e... OMIM:277900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency, Common Variable, 2
Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Re... OMIM:240500
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Micrognathia, Crypto... ORPHA:3409
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Flexion contracture, Squamous cell carcinoma, Gastroesophageal reflux, Hypoalbuminemia, Decreased... ORPHA:89842
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Micrognathia, High palate, Bifid uvula, Short stature, Precocious puberty, Cryptorchidism, Obesit... ORPHA:96184
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem... OMIM:617780
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Hypoalbuminemia, Vomiting, Hepatic fibrosis,... ORPHA:14
Immunodeficiency 19
Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce... OMIM:615617
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypoalbuminemia, Infectious encephalitis, Meningitis, Hyponatremia, Hepatomegaly, Hep... OMIM:603553
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... OMIM:615518
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... ORPHA:251992
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious ... OMIM:612714
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Congenital Disorder Of Glycosylation, Type Ii
Joint laxity, Hepatomegaly, Short stature, Diarrhea, Iron deficiency anemia, Gastroesophageal ref... OMIM:607906
Preeclampsia
Elevated hepatic transaminase, Helicobacter pylori infection, Increased body mass index, Small fo... ORPHA:275555
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Short stature, Micrognathia, Microcytic anemia, Cryptorchidism, Short toe, Fle... ORPHA:98791
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Abnormal intrahepatic bile duct mor... ORPHA:186
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Limitation of joint mobility, Sepsis... ORPHA:79327
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Lymphoma, Recurrent ton... ORPHA:397596
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Elevated circulating C-reactive protein concentration, Tachypnea, Increased circulating... OMIM:615934
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... ORPHA:247598
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Hypothyroidism, Hepatic steatosis, Hemolytic anemia, Hepatomeg... OMIM:619487
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Sepsis, Hashimoto thyroiditis,... ORPHA:199299
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody... OMIM:614602
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Sepsis, Decreased circulating IgG level, Hepatomegaly, Psoriasiform dermatiti... OMIM:616100
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Seve... OMIM:616433
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Lower limb asymmetry, Splenomegaly, A... ORPHA:2969
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent skin... OMIM:620210
Syndromic Diarrhea
Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, He... ORPHA:84064
Autosomal Dominant Spastic Paraplegia Type 29
Impaired vibratory sensation, Hiatus hernia, Impaired proprioception, Hyperbilirubinemia, Abnorma... ORPHA:101009
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Hyperlipidemia, Protein-losing enteropathy, Hypoalbum... OMIM:615863
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Hypoglycemia, He... OMIM:232220
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Thymoma
Myositis, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Neoplasm, Co... ORPHA:99867
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Short stature, Elevated circulating creatine kinase concentration,... ORPHA:96180
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Eczema, Microcytic anemia, Dysphagia, Failure to thrive OMIM:612379
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Wolman Disease
Nausea and vomiting, Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splen... ORPHA:75233
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... ORPHA:79230
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom... ORPHA:85443
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Micrognathia, Hypocalcemia, Hepatomegaly, Increased bone mineral de... OMIM:259720
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,... ORPHA:33355
Immunodeficiency 85 And Autoimmunity
Tube feeding, Lymphopenia, Villous atrophy, Recurrent respiratory infections, Failure to thrive i... OMIM:619510
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemogl... ORPHA:231401
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Hypomagnesemia, Diarrhea, Cachexia, Xerostomia, Clubbing... OMIM:175500
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Hypochromi... ORPHA:440713
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Abdominal pain, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenop... OMIM:618852
Congenital Generalized Lipodystrophy
Mandibular prognathia, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Precocious puberty ... ORPHA:528
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Hypocalcemia, Short tibia, Decreased circulating IgG level, Rhizomelia, Cry... OMIM:607143
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder, Absent leuko... OMIM:242880
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Vasculitis, Recurrent pneumonia... OMIM:617718
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Failure to thrive, Psoriasiform dermatitis, Recurrent skin infe... OMIM:615508
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Broad hallux, Overlapping toe, Short stature, Micrognathia, Microcytic anemia, Cryptorchidism, Hy... ORPHA:293967
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Rectal prolapse, Narrow palate, Hypoalbuminemia, Protein-losin... OMIM:235510
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Single lineage myelodysplasia... ORPHA:86839
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Elevated circulating creatine kinase concentration, Flexion contracture, Hepatic stea... OMIM:613327
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... ORPHA:42
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619707
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ab... OMIM:235200
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Dia... ORPHA:75234
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Autosomal Erythropoietic Protoporphyria
Eczema, Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function... ORPHA:79278
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph... ORPHA:275761
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Micrognathia, Gastroesophageal reflux, Vomiting, Elevated gamma-glutamyltransf... OMIM:619525
Graft Versus Host Disease
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Stiff inter... ORPHA:39812
Degcags Syndrome
Osteopenia, Oral-pharyngeal dysphagia, Micrognathia, Leukopenia, Iron deficiency anemia, High pal... OMIM:619488
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Vomiting, Neutropenia,... ORPHA:221008
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Trichohepatoenteric Syndrome 1
Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Intractable diarrhea, Bifid uvula, Hepatomega... OMIM:222470
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, High palate, Vomiting,... ORPHA:221016
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Odynophagia, U... ORPHA:99826
Caspase 8 Deficiency
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:607271
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Soft tissue neoplasm, Vaginal neoplasm, Reduced C-p... ORPHA:2126
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Flexion contracture, Gastrointestinal inflammation, Squamous cell carcinoma, Iron def... ORPHA:79408
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Diarrhea, Vestibular areflexia, Atopic dermatitis, ... ORPHA:3240
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Lower limb asymmetry, Microcytic a... ORPHA:90308
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Dietary Iron Overload Disease
Hepatic fibrosis, Elevated hepatic iron concentration, Hepatic steatosis, Hepatomegaly, Chronic i... ORPHA:139507
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, Abdomina... ORPHA:98849
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 43
Hypoproteinemia, Hypoplasia of the ulna, Recurrent respiratory infections, Decreased specific ant... OMIM:241600
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Dyspnea, Hyp... OMIM:251900
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Ankle swelling, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weigh... ORPHA:514
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Arthralgia, Increased cir... ORPHA:48104
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Abdominal... ORPHA:100025
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:604250
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Va... ORPHA:37748
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Dyspnea, Splenomegaly, Glucose intolerance, Abnormality of iron ho... ORPHA:75563
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath... OMIM:301078
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Hamamy Syndrome
Osteopenia, Prolonged QRS complex, Microcytic anemia, Micrognathia, High palate, Clinodactyly of ... OMIM:611174
Plummer-Vinson Syndrome
Tongue atrophy, Poor appetite, Abdominal pain, Cheilitis, Hypochromic microcytic anemia, Iron def... ORPHA:54028
Multiple Myeloma
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... ORPHA:29073
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Craniosynostosis, Sepsis, Decreased circulating antibody level, Feedin... ORPHA:79396
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Nasogastric tube feeding in infancy, Reduced bone mineral density, S... ORPHA:2909
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Growth delay, Iron deficiency anemia, Elevated circula... ORPHA:89937
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... OMIM:608184
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:618015
Dubowitz Syndrome
Aplastic anemia, Micrognathia, Feeding difficulties in infancy, Gastroesophageal reflux, High pal... OMIM:223370
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Abnormal finger morphology, Neoplasm of the central n... ORPHA:744
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Short stature, Recurrent skin infections, Feeding difficulties, Decreased circ... OMIM:617744
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... ORPHA:100075
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Portal hype... ORPHA:367
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Sepsis, Leukopenia, Hypoalbuminemia, Conjunctivitis, D... ORPHA:505248
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Hypertension, ... OMIM:616069
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Short stature, Abscess, Perianal abscess, Hepatosplenomegaly, Ly... OMIM:618935
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, ... ORPHA:292
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Gastrointestinal inflammation, Growth delay, Squamous cell carcinoma, Basal cell c... ORPHA:79405
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... OMIM:246700
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Analbuminemia
Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentration, Increased... OMIM:616000
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Short stature, Malabsorption, Asthma, Increa... ORPHA:634
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... ORPHA:83471
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Abnormal intra... ORPHA:79303
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... OMIM:619652
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, Facial capillary hemangioma, Gastrointesti... OMIM:270400
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... ORPHA:1304
Idiopathic Achalasia
Cough, Wheezing, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbu... ORPHA:930
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypoch... OMIM:266510
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Gastrointestinal inflammation, Growth delay, Squamous cell carcinoma, Basal cell c... ORPHA:79406
Dermatitis Herpetiformis
Microcytic anemia, Recurrent fractures, Eczema, Malabsorption ORPHA:1656
Acatalasemia
Severe periodontitis, Reduced catalase level, Neoplasm of the larynx, Microcytic anemia, Type II ... ORPHA:926
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... OMIM:610198
Potocki-Lupski Syndrome
Mandibular prognathia, Short stature, Small for gestational age, Micrognathia, Feeding difficulti... OMIM:610883
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Short stature, Abnormal dental en... ORPHA:1133
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Protein-losing enteropathy,... OMIM:602579
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97283
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphati... OMIM:616005
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Monocytope... OMIM:618986
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Colitis,... OMIM:615190
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio... ORPHA:48435
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts OMIM:182170
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomit... OMIM:620357
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal... ORPHA:85138
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Gastrointestinal inflammation, Growth delay, Squamous cell carcinoma, Basal cell c... ORPHA:79411
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudden cardiac dea... OMIM:201475
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia OMIM:608320
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Renpenning Syndrome
Mandibular prognathia, Severe short stature, Diabetes mellitus, Cachexia, Joint stiffness, Abnorm... ORPHA:3242
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Short stature, Elevated circulating C-reactive protein concentration... OMIM:619423
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Boutonneuse Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Vasc... ORPHA:83313
Immunodeficiency With Hyper-Igm, Type 3
Increased circulating IgM level, Recurrent bacterial infections, Decreased circulating IgE, Decre... OMIM:606843
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Hypoammonemia, Micrognathia, Feeding difficulties in ... ORPHA:534
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Test... ORPHA:83469
Gaisböck Syndrome
Myocardial infarction, Increased circulating renin level, Cholecystitis, Overweight, Increased me... ORPHA:90041
Bloom Syndrome
Recurrent herpes, Poor appetite, Micrognathia, Severe varicella zoster infection, Uveitis, Neopla... ORPHA:125
Mccune-Albright Syndrome
Abnormal femur morphology, Gastroesophageal reflux, Aneurysmal bone cyst, Benign gastrointestinal... ORPHA:562
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Increased... ORPHA:71
Immunodeficiency 31C
Osteopenia, Villous atrophy, Protein-losing enteropathy, Cough, Disseminated histoplasmosis, Recu... OMIM:614162
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Sandal gap, Short stature, Small hand, Pineal cyst, Shor... OMIM:618885
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype... OMIM:620211
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H... ORPHA:79237
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Ectopic tooth eruption... OMIM:606893
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Schwartz-Jampel Syndrome
Apnea, Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Feeding diff... ORPHA:800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... OMIM:616897
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... ORPHA:77296
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Mevalonic Aciduria
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... OMIM:610377
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Anemia OMIM:603278
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Sialadenitis, Incr... ORPHA:449563
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High palate, Abno... ORPHA:93315
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Weight loss,... ORPHA:309031
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Chronic fatigue, Abdom... ORPHA:424016
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... OMIM:616860
Complement Component 5 Deficiency
Intractable diarrhea, Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurre... OMIM:609536
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Short stature, Increased circulating IgE level, Dental malo... ORPHA:1858
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... OMIM:613752
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Recurrent pneumo... OMIM:612301
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... OMIM:175200
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Malabsorption, Respiratory insufficiency, Hypoalbuminemia, F... ORPHA:1954
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Micrognathia, ... OMIM:614857
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Abnormal lactate dehydrogenase lev... ORPHA:67044
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... ORPHA:85450
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Ogden Syndrome
Congenital hip dislocation, Apnea, Maternal diabetes, Micrognathia, Microvesicular hepatic steato... OMIM:300855
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Neoplasm of the laryn... ORPHA:100083
Srd5A3-Cdg
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Microcytic ... ORPHA:324737
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia ORPHA:3319
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin... ORPHA:331206
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Abdominal pain, Dyspnea, Diarrhea, Abnormal lactate dehyd... ORPHA:54057
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Hepatomegaly, Elevated hepatic transaminase, Respirat... OMIM:613561
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... ORPHA:100078
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... OMIM:301033
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... OMIM:264700
Aceruloplasminemia
Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c... ORPHA:48818
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Short stature, Abnormality of neutrophils, Reduced bone mineral density, High pal... ORPHA:2720
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Intrauterine growth retardation, Short stature, Minimal ch... ORPHA:1830
Hyperparathyroidism, Transient Neonatal
Osteopenia, Respiratory distress, Hyperparathyroidism, Short femur, Metaphyseal spurs, Recurrent ... OMIM:618188
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... ORPHA:47612
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy... OMIM:181000
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Short stature, Diabetes mellitus, Splenomegaly, Insulin resis... OMIM:612526
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia, Increased erythrocyte prot... OMIM:300752
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Small for gestational age, Pyloric stenosis, Abdominal distention,... OMIM:256300
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Feeding difficulties in infancy, Hepatocellular necrosis, Hypoalbuminemia, Vomiting, Hepatic stea... OMIM:251880
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Recurrent bacterial ... ORPHA:101330
Mitochondrial Dna Depletion Syndrome 18
Reduced forced vital capacity, Failure to thrive, Microcytic anemia OMIM:618811
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... OMIM:277440
Gitelman Syndrome
Respiratory distress, Maternal diabetes, Iron deficiency anemia, Tubulointerstitial nephritis, Gl... ORPHA:358
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Cystic Echinococcosis
Abdominal symptom, Abnormal peritoneum morphology, Abnormality of the testis size, Elevated gamma... ORPHA:400
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Shwachman-Diamond Syndrome 1
Respiratory distress, Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaph... OMIM:260400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Isolated Agammaglobulinemia
Sinusitis, Abnormality of neutrophils, Sepsis, Otitis media, Abnormal lymphocyte morphology, Meni... ORPHA:229717
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Hypercholesterolemia, Abnormal circulating creatine kinase concent... ORPHA:488650
Peeling Skin Syndrome 1
Short stature, Eosinophilia, Asthma, Increased circulating IgE level, Palmoplantar hyperhidrosis,... OMIM:270300
Smith-Magenis Syndrome
Mandibular prognathia, Micrognathia, Feeding difficulties in infancy, Gastroesophageal reflux, Cl... ORPHA:819
Neonatal Hemochromatosis
Hypoglycemia, Micrognathia, Increased circulating ferritin concentration, Congenital hepatic fibr... ORPHA:446
Galloway-Mowat Syndrome 6
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Hypoalbuminem... OMIM:618347
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul... ORPHA:141152
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Feeding difficulties, Hypochromic anemia, Microcytic anemia OMIM:618451
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Microcytic anemia, Pulmonary embolism, Retinal telangiectasia, Chole... ORPHA:774
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, B-cell lymphoma, Anorexia, Splenomegaly, Weight loss, ... ORPHA:52416
Christianson Syndrome
Mandibular prognathia, Cachexia, Feeding difficulties in infancy, Joint hyperflexibility, Gastroe... ORPHA:85278
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Crackles, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, H... ORPHA:99931
Neutropenia, Chronic Familial
Clubbing, Clubbing of fingers, Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Chronic Thromboembolic Pulmonary Hypertension
Fatigue, Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pul... ORPHA:70591
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... ORPHA:91547
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Postnatal growth retardation, Ost... ORPHA:2169
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Pes planus, Cachexia, Micrognathia, Joint stiffness, Abnormality of the lower limb, Flexion contr... ORPHA:1979
Pulmonary Arteriovenous Malformation
Liver abscess, Myocardial infarction, Iron deficiency anemia, Gastrointestinal infarctions, Recur... ORPHA:2038
Familial Colorectal Cancer Type X
Abnormal circulating creatine concentration, Neoplasm of the breast, Stomach cancer, Fatigue, Ren... ORPHA:440437
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Short stature, Epistaxis, Intrahepatic cholestasis with episodic jaundi... OMIM:211600
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa... OMIM:261000
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro... OMIM:613848
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Ring Chromosome 10 Syndrome
Sandal gap, Aganglionic megacolon, Cachexia, Tapered finger, Micrognathia, Hypocalcemia, Intraute... ORPHA:1438
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Neonatal respiratory distress, Arachnodactyly, Micrognathia, Feeding difficul... OMIM:619036
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... OMIM:210250
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Micrognathia, Flexion contracture, High palate, Hyperglycemia, Calcinosis, Hepatomega... OMIM:248370
Cartilage-Hair Hypoplasia
Metaphyseal widening, Coxa vara, Femoral bowing, Susceptibility to chickenpox, Short palm, Neutro... OMIM:250250
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t... ORPHA:227990
Leprechaunism
Postnatal growth retardation, Abdominal distention, Rectal prolapse, Megarectum, Hypokalemia, Inc... ORPHA:508
Cystic Fibrosis
Male infertility, Meconium ileus, Rectal prolapse, Recurrent pneumonia, Ileus, Bronchiectasis, Di... OMIM:219700
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Leukocytosis, Severe infection, Absent patellar reflexes, Abnor... ORPHA:206594
Smith-Magenis Syndrome
Mandibular prognathia, Pes planus, Hypertriglyceridemia, Short stature, Abnormality of the thyroi... OMIM:182290
Tularemia
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Conjunctivitis, Otitis media, C... ORPHA:3392
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Clinodactyly of the 5th finger, Short stature, ... ORPHA:353298
Laron Syndrome
Delayed eruption of teeth, Severe short stature, Hypoglycemia, Micrognathia, Abnormality of the e... ORPHA:633
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Tapered finger, Feeding diff... OMIM:616801
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Camurati-Engelmann Disease
Anorexia, Feeding difficulties in infancy, Abnormal tibia morphology, Craniofacial osteosclerosis... ORPHA:1328
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Short stature, Hypoglycemia, Abdominal d... ORPHA:369
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... OMIM:613496
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Failure to thrive, Diabetes mellitus, Recurrent skin infections, Decreased... ORPHA:391372
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elev... OMIM:617872
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Chronic ... OMIM:601495
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormal long bone morphology, Increased circula... ORPHA:228123
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe... ORPHA:227982
Waldenström Macroglobulinemia
Normocytic anemia, Abnormality of neutrophils, Anorexia, Pedal edema, Hepatomegaly, Vasculitis, R... ORPHA:33226
Angiostrongyliasis
Projectile vomiting, Stiff neck, Poor appetite, Increased circulating IgA level, Abdominal pain, ... ORPHA:74
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Bundle branch block, Congenital hip dislocation, High, narrow palate, Neop... ORPHA:373
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Indolent Systemic Mastocytosis
Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Autoimmune Polyendocrine Syndrome, Type Ii
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid... OMIM:269200
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Mirage Syndrome
Adrenal hypoplasia, Sepsis, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Aspirat... OMIM:617053
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... OMIM:618999
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... ORPHA:169160
Isolated Thyroid-Stimulating Hormone Deficiency
Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossification, Constipation, ... ORPHA:90674
Acquired Von Willebrand Syndrome
Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Epistaxi... ORPHA:99147
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Pes cavus, Distal lower limb muscle weakness, Hypoalbuminemia ORPHA:94124
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated circulating glutaric acid concentration, Elevated hepatic transam... ORPHA:66634
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Mandibuloacral Dysplasia
Hypertriglyceridemia, Micrognathia, Postnatal growth retardation, Increased circulating free fatt... ORPHA:2457
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Tick-Borne Encephalitis
Elevated hepatic transaminase, Stiff neck, Elevated circulating C-reactive protein concentration,... ORPHA:297
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Paraproteinemia, Nephritis, Membr... ORPHA:91139
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Neoplasm of t... ORPHA:249
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... ORPHA:1190
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Recurrent upper respiratory tra... OMIM:618183
Autosomal Agammaglobulinemia
Fatigue, Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin in... ORPHA:33110
Femoral-Facial Syndrome
Short femur, Short stature, Maternal diabetes, Micrognathia, Cryptorchidism, Coxa vara, Cleft pal... ORPHA:1988
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Tibial bowing, Femoral bowi... ORPHA:289157
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... OMIM:620010
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Abnormal blood ion concentration, Sepsis, Gastrointestinal inflammation, Sq... ORPHA:79404
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Micrognathia, Respiratory insufficiency due to muscle weakness, Paraprote... ORPHA:171442
Congenital Muscular Dystrophy Due To Lmna Mutation
Talipes, Cachexia, Congestive heart failure, Flexion contracture, Limitation of joint mobility, R... ORPHA:157973
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Rhabdoid Tumor
Nausea and vomiting, Renal neoplasm, Hypercalcemia, Poor appetite, Abdominal pain, Respiratory in... ORPHA:69077
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Short thumb, Patent ductus arteriosus, Osteoporosis, Cleft palate,... OMIM:612562
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Growth delay, Squamous cell c... ORPHA:79409
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Autosomal Recessive Hypophosphatemic Rickets
Coxa vara, Tibial bowing, Enthesitis, Hypocalcemic tetany, Hypophosphatemic rickets, Genu varum, ... ORPHA:289176
Dubowitz Syndrome
Anal stenosis, Short stature, Eczema, Malabsorption, Postnatal growth retardation, Rectal prolaps... ORPHA:235
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade... OMIM:615387
Infantile Systemic Hyalinosis
Osteopenia, Micromelia, Short palm, Aplasia/Hypoplasia of the thymus, Osteomalacia, Chronic diarr... ORPHA:2176
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia... OMIM:617591
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... OMIM:617093
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233710
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Pes planus, Elevated circulating creatine kinase concentration, Ab... ORPHA:88618
Fanconi-Bickel Syndrome
Osteopenia, Hepatocellular carcinoma, Fasting hypoglycemia, Hepatomegaly, Elevated circulating as... ORPHA:2088
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Increased... ORPHA:160
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Malabsorption, Pedal edema, Intestinal lymphangiectasia, Lymphop... OMIM:152800
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Gr... OMIM:306000
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency OMIM:178550
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Micrognathia, Hamartomatous polyposis, Intracranial hemorrhage, N... ORPHA:109
Tenorio Syndrome
Osteopenia, Joint laxity, Mandibular prognathia, Apnea, Hypoglycemia, Raynaud phenomenon, Recurre... OMIM:616260
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Gastrointestinal inflammati... ORPHA:99413
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Knee ... OMIM:608836
Mosaic Monosomy X
Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Gastrointestinal inflammati... ORPHA:99228
Monosomy X
Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Gastrointestinal inflammati... ORPHA:99226
Turner Syndrome
Osteopenia, Myocardial infarction, Micrognathia, High, narrow palate, Gastrointestinal inflammati... ORPHA:881
Squalene Synthase Deficiency
Failure to thrive in infancy, Micrognathia, Bilateral cryptorchidism, Increased circulating farne... OMIM:618156
Immunodeficiency 12
Skin rash, Recurrent viral infections, Esophageal stricture, Bronchiectasis, Cheilitis, Recurrent... OMIM:615468
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Micrognathia, Abnormal foot morphology, Flexion contracture, 2-... OMIM:618186
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Cough, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheez... OMIM:613490
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circu... OMIM:613179
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Pes cavus, Hypoalbuminemia OMIM:607250
Palmoplantar Keratoderma, Epidermolytic, 1
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis OMIM:144200
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab... ORPHA:99827
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Idiopathic Bronchiectasis
Crackles, Productive cough, Myocardial infarction, Dyspnea, Wheezing, Cachexia, Clubbing, Bronchi... ORPHA:60033
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Flynn-Aird Syndrome
Cachexia, Joint stiffness, Carious teeth, Abnormality of the thyroid gland, Bone cyst, Primary ad... ORPHA:2047
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Micrognathia, Reduced bone mineral density, Glossoptosis, Abnormally ossi... ORPHA:94068
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the... OMIM:208900
Neuhauser Syndrome
Osteopenia, Pes planus, Genu recurvatum, Arachnodactyly, Short stature, Micrognathia, Genu valgum... OMIM:249310
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cystinosis
Short stature, Portal hypertension, Malabsorption, Nephrogenic diabetes insipidus, Rickets, Hypop... ORPHA:213
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, E... OMIM:214900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fatigue, Increased inflammatory response, Increased circulating interleukin 6 concentration, Tach... ORPHA:542323
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Short stature, Elevated circulating creatine kinase concentration, Small for gestational age, Fee... OMIM:301056
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... ORPHA:97282
Riboflavin Transporter Deficiency
Cachexia, Respiratory insufficiency, Hypertension, Hypogonadism, Dysphagia, Diabetes insipidus ORPHA:97229
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia, High palate, Neutropenia, Homocystin... OMIM:277380
Pachydermoperiostosis
Genu varum, Hepatomegaly, Acne, Osteoporosis, Anemia, Elevated circulating growth hormone concent... ORPHA:2796
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Propionic Acidemia
Apnea, Poor appetite, Feeding difficulties in infancy, Tachypnea, Vomiting, Neutropenia, Hepatome... OMIM:606054
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... OMIM:557000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Sandal gap, Myelodysplasia, Recurrent pneumonia,... OMIM:617475
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Diarrhea, Feeding difficulties, Weight loss, Aminoaciduria, Vomit... OMIM:612075
Osteootohepatoenteric Syndrome
Villous atrophy, Increased intestinal transit time, Microvesicular hepatic steatosis, Secretory d... OMIM:619377
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough ORPHA:64741
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Single lineage myelo... ORPHA:98826
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hypoglycem... OMIM:232240
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Chronic infection, Generalized osteoscler... ORPHA:210110
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... ORPHA:562639
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Small for gestational age, Hypochromic microcytic anemia, Growth delay,... OMIM:619147
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... ORPHA:79124
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Carious teeth, Gastrointestinal inflammation, Growth delay, Squamous cell carcinoma, Basal cell c... ORPHA:79410
Gaucher Disease Type 1
Osteopenia, Anorexia, Osteoarthritis, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatom... ORPHA:77259
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal trabecular ... ORPHA:79106
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233690
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Decreased ci... OMIM:241530
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... OMIM:614069
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Nephrotic Syndrome, Type 11
Arachnodactyly, Micrognathia, Minimal change glomerulonephritis, Partial duplication of thumb pha... OMIM:616730
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Cryptorchidism, Shor... OMIM:194350
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr... OMIM:619693
Eisenmenger Syndrome
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... ORPHA:97214
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive pr... ORPHA:1451
Nijmegen Breakage Syndrome
Anorectal anomaly, Neoplasm, Hemolytic anemia, Short stature, B-cell lymphoma, Chronic diarrhea, ... ORPHA:647
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Reni Syndrome
Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency, Hypog... OMIM:617575
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... ORPHA:3202
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Protruding tongue, Absent frontal sinuses, Cryptorchidism, Tapered finger,... OMIM:301040
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Methylmalonic acidemia, Short femur, Apnea, Recurrent respir... ORPHA:17
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... OMIM:600081
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Hepatomegaly, Abnormal large intestine morpholo... ORPHA:2198
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Postnatal growth retarda... OMIM:620366
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... ORPHA:2552
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Elevated circul... ORPHA:829
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Williams Syndrome
Elevated circulating creatine kinase concentration, Myocardial infarction, Rectal prolapse, Dysme... ORPHA:904
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re... ORPHA:93941
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Pneumocystis carinii pneumonia... OMIM:620321
Cartilage-Hair Hypoplasia
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, N... ORPHA:175
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, ... ORPHA:221139
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoa... OMIM:619534
Silver-Russell Syndrome
Micrognathia, Abnormal appendicular skeleton morphology, Recurrent hypoglycemia, Gastroesophageal... ORPHA:813
Monosomy 22
Finger syndactyly, Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Clubbing, Hypochromi... ORPHA:96123
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Eruption failure, Multiple lipomas, Pap... OMIM:175100
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin resistance, Insulin... ORPHA:411593
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Sapho Syndrome
Craniofacial osteosclerosis, Enthesitis, Inflammation of the large intestine, Palmoplantar pustul... ORPHA:793
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Micrognathia, High, narrow palate, Generalized joint laxi... OMIM:619472
Sodium-Dependent Multivitamin Transporter Deficiency
Clubbing of fingers, Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding... OMIM:618973
Barth Syndrome
Mandibular prognathia, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, ... OMIM:302060
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hypothyroidi... OMIM:615846
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Common Variable Immunodeficiency
Abnormality of the liver, Otitis media, Chronic otitis media, Emphysema, Hemolytic anemia, Autoim... ORPHA:1572
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Feeding difficulties OMIM:614652
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Episodic abdominal p... ORPHA:97280
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Elevated circulating C-reactive protein concentration, BCGosis, Hepatomega... OMIM:619644
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Respiratory insufficiency, Hyperammonemia, ... ORPHA:27
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... OMIM:603041
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Poems Syndrome
Sclerosis of hand bone, Acrocyanosis, Hypothyroidism, Polycythemia, Sclerosis of foot bone, Abnor... ORPHA:2905
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Short stature, ... OMIM:242150
Primary Membranoproliferative Glomerulonephritis
Hypertension, Decreased circulating complement C3 concentration, Hypoalbuminemia, Myocardial infa... ORPHA:54370
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane... OMIM:245900
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Poor appetite, Anorexia, Splenomegaly, Lymphoma, Osteolysis, Respiratory... ORPHA:391
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypothyroidis... ORPHA:90065
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory... OMIM:615758
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Natal tooth, Failure to thrive, Short stature, Increased circulating IgA level, Bila... OMIM:616395
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste... ORPHA:53
Fanconi-Bickel Syndrome
Poor appetite, Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Hepatomegaly, Hypo... OMIM:227810
Alveolar Echinococcosis
Liver abscess, Cholangitis, Pedal edema, Vomiting, Cough, Portal hypertension, Abdominal pain, Ab... ORPHA:284
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Short stature, Cryptorchidism, Thiamine-responsive megal... OMIM:249270
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis OMIM:617609
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Anorexia, Rickets, Hepatosplenomegaly, Decrease... OMIM:611590
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... ORPHA:340
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Feeding difficulties in infancy, Splenomegaly, Hyper... OMIM:619046
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Elevated circulating creatinine concentration, Gout, Recurrent infections, Hyperur... OMIM:617056
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Decreased circulating complement C4 concentra... ORPHA:90060
Bone Dysplasia, Lethal Holmgren Type
Micromelia, Abnormal femur morphology, Hepatomegaly, Rhizomelia, Patent ductus arteriosus, Respir... ORPHA:1842
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Short stature, Cachexia, Abnormal circulating creatine concentration, Ileu... ORPHA:52503
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Asthma, ... ORPHA:90280
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Hypercholesterolemia, Cholangitis,... ORPHA:69663
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat... ORPHA:86841
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Sepsis, Abnormal... ORPHA:70578
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... ORPHA:56304
Short Stature, Dauber-Argente Type
Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... OMIM:619489
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Congenital hip dislocation, Short stature, Intestinal malrotation,... OMIM:244450
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Crackles, Myelodysplasia, Dyspnea, Mediastinal lymphad... OMIM:614742
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Mandibular prognathia, Duodenal polyposis, Micrognathia, Adenomatous colonic polyposis, Desmoid t... ORPHA:261584
Mcdonough Syndrome
Mandibular prognathia, Short stature, Cachexia, Micrognathia, Cryptorchidism, Dental malocclusion ORPHA:2471
Acute Interstitial Pneumonia
Cyanosis, Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, D... ORPHA:79126
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Short stature, Tapered finger, Micrognathia, Joint hyperflexibility, High palate, Met... ORPHA:2479
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe... OMIM:602080
Schimke Immunoosseous Dysplasia
Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:242900
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly ORPHA:2576
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Feeding difficulties in infanc... ORPHA:355
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Seve... ORPHA:319251
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Arachnodactyly, Short stature, Cachexia, Micrognathia, Nasogastric tube feeding ... ORPHA:371364
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein ... ORPHA:85414
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Osteomyelitis, Femur fracture, Increased bone mineral density, Cranio... OMIM:259700
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, La... ORPHA:324575
Chronic Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Neonatal sepsis, Feeding difficulties, Hypoalbuminemia, Prolonge... ORPHA:529808
Polymyositis
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Elevated circulating creatine kinase concentr... ORPHA:732
Acute Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Neonatal sepsis, Feeding difficulties, Hypoalbuminemia, Prolonge... ORPHA:529799
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min... OMIM:617052
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Myocardial infarction, Adrenal... ORPHA:95409
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Growth delay, Increased circulating ... OMIM:203400
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati... OMIM:307800
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Abnormalit... ORPHA:449432
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... ORPHA:439232
Bloom Syndrome
Squamous cell carcinoma, Clinodactyly of the 5th finger, Decreased circulating IgG level, Hepatic... OMIM:210900
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Severe viral infection, Decreased ci... OMIM:616636
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Lynch Syndrome
Intestinal polyposis, Fatigue, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum,... ORPHA:144
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Tetrasomy 12P
Delayed eruption of teeth, Short stature, Cachexia, Abnormal soft palate morphology, Joint hyperf... ORPHA:884
Diencephalic Syndrome
Cachexia, Neoplasm of the nervous system, Large hands, Decreased body weight, Abnormality of the ... ORPHA:1672
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Respiratory distress, Fai... ORPHA:79329
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Osteolysis involving bones of the upper l... ORPHA:73
Hemophagocytic Syndrome Associated With An Infection
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Abnormal cytokine signaling, Severe... ORPHA:158048
Pneumocystosis
Respiratory failure requiring assisted ventilation, Pneumocystis jirovecii pneumonia, Abnormal ne... ORPHA:723
Proteus Syndrome
Splenomegaly, Facial hyperostosis, Multiple lipomas, Hypertrophy of skin of soles, Lipoma, Hemang... OMIM:176920
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly, Recurrent pharyng... ORPHA:42642
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of... ORPHA:84
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Short stature, Decreased LDL ch... OMIM:616834
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Minimal change glomerulonephritis, Abdominal pain, Pulmonary embolism, Peri... ORPHA:567548
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe... ORPHA:90045
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Cough, Decreased circulating IgG level,... OMIM:620005
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Myeloid leukemia, Hepatic fa... ORPHA:331
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti... ORPHA:567544
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegal... OMIM:612541
Hypophosphatasia, Infantile
Apnea, Micromelia, Bowing of the legs, Anorexia, Intracranial hemorrhage, Vomiting, Unossified ve... OMIM:241500
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormal limb bone mor... ORPHA:2204
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia OMIM:227090
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Neoplasm, Periodontitis... ORPHA:1775
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Pes cavus, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Myelodysplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Respiratory insufficiency, Feeding difficulties, Res... OMIM:618329
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic anemia, Feeding difficul... OMIM:250940
Williams-Beuren Syndrome
Feeding difficulties in infancy, Rectal prolapse, Sudden death, Gastroesophageal reflux, Short st... OMIM:194050
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Achondroplasia
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... OMIM:100800
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen... ORPHA:329918
Liver Disease, Severe Congenital
Chronic gastritis, Micrognathia, Biliary hyperplasia, Sepsis, Abnormal left ventricular function,... OMIM:619991
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Intrahepatic... OMIM:606812
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Micrognathia, Limitation of joint mobility, Osteolysis, Slende... ORPHA:2774
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... OMIM:608898
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Legionnaires Disease
Anorexia, Sepsis, Arthralgia, Infectious encephalitis, Hyponatremia, Fatigue, Ataxia, Abdominal p... ORPHA:549
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Joint laxity, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Feeding difficulties... ORPHA:541423
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Short stature, Pneumonia, Malabsorption, Protruding tongue, Microgn... OMIM:242860
Yellow Fever
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... ORPHA:99829
Ck Syndrome
Slender build, Micrognathia, Retrognathia, High palate, Malar flattening, Abnormal cortical bone ... OMIM:300831
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Eczema, Short stature, Micrognathia, Minimal change glomerulonephr... OMIM:618348
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Kindler Epidermolysis Bullosa
Flexion contracture, Squamous cell carcinoma, Inflammation of the large intestine, Colitis, Conju... ORPHA:2908
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:449427
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Decreased methionine synthase activ... OMIM:236270
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... ORPHA:90003
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Cockayne Syndrome
Feeding difficulties in infancy, Congenital contracture, Gastroesophageal reflux, Hepatomegaly, C... ORPHA:191
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo... ORPHA:99828
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Mitochondrial Dna Depletion Syndrome 19
Hydrocele testis, Microcytic anemia OMIM:618972
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay, Absence of intrinsic factor OMIM:243320
Gm1 Gangliosidosis
Mandibular prognathia, Decreased beta-galactosidase activity, Gastroesophageal reflux, Aspiration... ORPHA:354
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Arachnodactyly, Short stature, Joint stiffness ORPHA:1144
Hypercholanemia, Familial 1
Rickets, Increased serum bile acid concentration, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:607748
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, Growth delay, Gastr... OMIM:613177
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Nonproductive cough, Xerostomia, Leukopeni... ORPHA:289390
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Short stature,... OMIM:264090
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Feeding diffic... ORPHA:556030
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hypothyroidism, Anis... ORPHA:300298
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,... OMIM:616740
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of t... OMIM:619708
Infantile Krabbe Disease
Respiratory distress, Abnormal circulating enzyme concentration or activity, Cachexia, Nasogastri... ORPHA:206436
Pudendal Neuralgia
Back pain, Somatic sensory dysfunction, Abdominal colic, Anal canal adenocarcinoma, Vulvodynia, G... ORPHA:60039
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio... OMIM:236000
Overlap Myositis
Elevated hepatic transaminase, Subluxation of the small joints of the hand, Abnormal circulating ... ORPHA:206572
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, ... ORPHA:3455
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Vici Syndrome
Elevated circulating creatine kinase concentration, Micrognathia, Recurrent viral infections, Leu... OMIM:242840
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl... ORPHA:276580
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Anorexia, Myocardial infarction, Vasculitis... ORPHA:3287
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Increased circ... ORPHA:556037
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid... OMIM:619598
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat... OMIM:607115
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Aminoaciduria, Short stature, Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephaloc... OMIM:108720
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short... OMIM:611881
Diamond-Blackfan Anemia 6
Macrocytic anemia, Failure to thrive, Micrognathia, Short thumb, Patent ductus arteriosus, Cleft ... OMIM:612561
Moynahan Syndrome
Hypogonadism, Short stature, Cachexia ORPHA:2574
Congenital Analbuminemia
Small for gestational age, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-globulin, Hypoal... ORPHA:86816
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Joint stiffness ORPHA:1216
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fe... ORPHA:276575
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Feeding d... ORPHA:171876
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Classical Ehlers-Danlos Syndrome
Fatigue, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Osteoarthritis, Arterial ruptur... ORPHA:287
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
22Q11.2 Deletion Syndrome
Impaired T cell function, Micrognathia, Feeding difficulties in infancy, Anorectal anomaly, Hypop... ORPHA:567
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... OMIM:300291
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Generalized aminoacidu... OMIM:606528
Infantile Liver Failure Syndrome 1
Long toe, Acute hepatic failure, Macrocytic anemia, Hepatomegaly, Elevated hepatic transaminase, ... OMIM:615438
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Mele... ORPHA:98870
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... OMIM:619523
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis, Clubbing, Secretory diarrhea, Hyperostosis, Hypoalbuminemia, Periost... OMIM:614441
Meningococcal Meningitis
Shock, Projectile vomiting, Skin rash, Elevated circulating C-reactive protein concentration, Ano... ORPHA:33475
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the splee... ORPHA:2072
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... ORPHA:100085
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Brain neoplasm, Elevated carcinoma antigen 125 lev... ORPHA:370348
Amyloidosis, Familial Visceral
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly OMIM:105200
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Q Fever
Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho... ORPHA:781
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ... ORPHA:39041
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, ... ORPHA:53035
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Severe short stature, Decreased circulating total IgM, Abnormal... ORPHA:2643
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Ankle clonus, Neutropenia, Hypoplastic anemi... OMIM:159550
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Syndactyly, Mild postnatal growth retardation, Small for gesta... OMIM:224120
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circulating renin level, Vo... OMIM:177735
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Steinert Myotonic Dystrophy
Brain neoplasm, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation t... ORPHA:273
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Severe short stature, Osteomalacia, Micrognathia, Hiatus hernia, Coxa valga, Avascula... ORPHA:1901
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration, Nephritis OMIM:161900
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... ORPHA:381
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... OMIM:153600
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... ORPHA:54251
Snakebite Envenomation
Hyponatremia, Pain, Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Neuromuscular dyspha... ORPHA:449285
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Acute Lung Injury
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circul... ORPHA:178320
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... ORPHA:90291
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Recurrent herpes, Generalized lymphadenopathy, Skin ra... ORPHA:33276
Plague
Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectious pneumonia, Inflam... ORPHA:707
Galloway-Mowat Syndrome 3
Arachnodactyly, Short stature, Micrognathia, Hiatus hernia, Hip dislocation, Hypertension, High p... OMIM:617729
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Recurrent respiratory infections, Feeding difficulties in infancy, Diarrhea, Hyperk... OMIM:264350
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur... OMIM:616733
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Elevated circulating C-reac... ORPHA:1302
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Genu valgum, G... OMIM:617798
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti... OMIM:600955
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Skin rash, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Fe... ORPHA:79284
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Short stature, Exocrine pancreatic insufficiency, Metaphyseal wi... OMIM:617941
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Complete duplication of the distal phalanges of the hand, Hypertension, Multiple... ORPHA:1879
Hermansky-Pudlak Syndrome 1
Epistaxis, Abdominal pain, Ocular albinism, Hematochezia, Cardiomyopathy, Inflammation of the lar... OMIM:203300
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Short stature, Eczema, Rectal prolapse, Obesity, Feeding diff... OMIM:617157
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Recurrent respiratory infections, Congenital hip dislocation, Toe syndactyly, ... ORPHA:217346
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Decreased lymphocyte proliferation in response to anti-CD3, Pneumonia, Me... OMIM:600802
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased r... OMIM:615577
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Increased circulating IgG level, Intrac... ORPHA:284227
Immunodeficiency 96
Conjunctival telangiectasia, Eczema, Recurrent infections, Growth delay, Decreased circulating to... OMIM:619774
Alpha-Thalassemia Myelodysplasia Syndrome
Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Short stature, Osteomalacia, Decreased circulating parat... ORPHA:157215
Reactive Arthritis
Aortic regurgitation, Pericarditis, Recurrent urinary tract infections, Osteomyelitis, Abdominal ... ORPHA:29207
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Caffey Disease
Feeding difficulties in infancy, Respiratory insufficiency, Periosteal thickening of long tubular... ORPHA:1310
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Prominence of the premaxilla, Decreased body weight, Short stature... OMIM:614886
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Cowden Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Hamartomatous polyposis, Hi... OMIM:158350
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Short stature, Anemia of inadequate production, A... OMIM:614900
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Hamartoma of tongue, C... OMIM:277170
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Short stature, Hypoglycinemia, Megaloblastic anemia, Feeding difficulties, Hyposerinemia, Umbilic... ORPHA:79351
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Short stature,... OMIM:309000
Rheumatoid Arthritis
Fatigue, Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Arthralg... OMIM:180300
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Facial capillary hemangioma, Femoral bowing, Abnormal ... OMIM:274000
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Aceruloplasminemia
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... OMIM:604290
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Hypoalbuminemia, Pedal edema ORPHA:84090
Galloway-Mowat Syndrome 1
Short stature, Small for gestational age, Micrognathia, Hiatus hernia, Feeding difficulties, High... OMIM:251300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Short stature, Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive hear... ORPHA:49827
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Growth delay, We... ORPHA:79238
Obesity Due To Congenital Leptin Deficiency
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... ORPHA:66628
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... ORPHA:91355
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,... ORPHA:179494
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... ORPHA:183
Lysinuric Protein Intolerance
Leukopenia, Aminoaciduria, Vomiting, Nausea, Hepatomegaly, Short stature, Osteoporosis, Respirato... OMIM:222700
Occipital Horn Syndrome
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal reflux, Short palm, L... ORPHA:198
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Athetosis, Con... OMIM:239300
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short stature, Cache... ORPHA:85293
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Telangiectasia of the... ORPHA:75508
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... OMIM:618775
Staphylococcal Necrotizing Pneumonia
Shock, Pneumonia, Elevated circulating C-reactive protein concentration, Shivering, Severe infect... ORPHA:36238
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Short stature, Bowi... OMIM:300009
Diamond-Blackfan Anemia 1
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Triphalangeal thum... OMIM:105650
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Mandibular prognathia, Short stature, Tapered finger, Overweight, Dilated c... ORPHA:401923
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Tricuspid regurgitation, Pneumothorax, Abnormal circulating ce... OMIM:620306
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Apnea, Micrognathia, Metatarsus... OMIM:214110
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Pedal edema, ... ORPHA:49041
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Trichinellosis
Skin rash, Trismus, Increased circulating IgE level, Retinal hemorrhage, Conjunctivitis, Dysphagi... ORPHA:863
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Astrocytoma, Hypertriglyceridemi... ORPHA:79086
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly OMIM:620296
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubuloint... ORPHA:139402
Stickler Syndrome
Micrognathia, Feeding difficulties in infancy, Hypoplasia of the maxilla, Osteoarthritis, Uveitis... ORPHA:828
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Rhizomelia, Eczema, Short stature, Decreased circulating antibo... OMIM:618116
Fg Syndrome Type 1
Micrognathia, Generalized joint laxity, Gastroesophageal reflux, High palate, Finger syndactyly, ... ORPHA:93932
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... ORPHA:563
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Severe short stature, Cachexia, Hypertension, Hypoalbuminemia, Ena... OMIM:610965
Gitelman Syndrome
Prolonged QT interval, Fatigue, Ataxia, Abdominal pain, Ventricular tachycardia, Growth delay, Hy... OMIM:263800
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Short stature, Bowi... OMIM:300554
Rett Syndrome
Apnea, Short stature, Intermittent hyperventilation, Cachexia, Short foot, Constipation, Gastroes... OMIM:312750
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Micrognathia, Feeding difficulties in infancy, Hydrocele testis, Hypocholesterolemi... OMIM:618810
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... OMIM:301068
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Recurrent respiratory infections, Gastritis, Micrognathia, Abnormal erythrocyte morphology, Folat... ORPHA:2575
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosi... ORPHA:2790
Icf Syndrome
Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Malabsorption, Protr... ORPHA:2268
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Dyspnea, Diarrhea, Insulin resistance, Eleva... ORPHA:230
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Diabetes mellitus, Feeding difficulties, Hypogonadism, Dysphagia, Pes cavus, H... ORPHA:98673
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea,... OMIM:275350
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Hemoly... ORPHA:447
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Rhizomelia, Glomerulonephritis, Supernumerary nipple, Short iliac bones, Short stat... OMIM:614376
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Multiple joint contractures, High, narrow palate... ORPHA:33364
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Dysphagia, Pleural effusion, Thrombocytopenia OMIM:254900
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Pmm2-Cdg
Osteopenia, Respiratory distress, Mandibular prognathia, Multiple joint contractures, Elevated ci... ORPHA:79318
Juvenile Dermatomyositis
Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:93672
8Q24.3 Microdeletion Syndrome
Respiratory distress, Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Mi... ORPHA:508488
Zika Virus Disease
Maculopapular exanthema, Ankle swelling, Skin rash, Meningitis, Increased circulating IgM level, ... ORPHA:448237
Tako-Tsubo Cardiomyopathy
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... ORPHA:66529
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis OMIM:619549
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Pes planus, Short femur, Short stature, Talipes, Joint hypermobility, ... OMIM:300990
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:306400
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Diabetes mellitus, Short stature, Malabsorption, Abnormality of the pa... ORPHA:2315
Tyrosinemia, Type I
Acute hepatic failure, Paralytic ileus, Hypophosphatemic rickets, Hepatomegaly, Anemia, Hypertyro... OMIM:276700
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizure... ORPHA:276556
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilitis, Poor appetite, ... ORPHA:35858
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Positive ferric chloride test, Growth delay, Aminoaciduria, Hypersegmentati... OMIM:229100
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Join... ORPHA:2635
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... OMIM:259710
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Anorexia, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss, L... ORPHA:86893
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu... ORPHA:50918
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... ORPHA:900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac... ORPHA:26793
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... OMIM:618372
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... ORPHA:95513
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Cystic angiomatosis of bone, Acute pancreatitis, Hypertriglyceridemia, Hep... OMIM:269700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Decreased circulating complement factor B concentration, Diarrhea, Schistocytosi... OMIM:235400
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Abnormal femur morphology, Atrioventr... ORPHA:324
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Hypertyrosinemia, Failure to thrive, Elevated hepatic transaminase, Hypogly... OMIM:617156
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... ORPHA:3152
Thymic Neuroendocrine Tumor
Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Hypercalcemia, Neoplasm o... ORPHA:97289
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... OMIM:617099
Nipah Virus Disease
Fatigue, Nausea and vomiting, Anorexia, Recurrent pharyngitis, Myalgia, Hypotension, Infectious e... ORPHA:99825
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Short stature, Failure to thrive in infancy, Bowel incontinence... ORPHA:702
Trisomy 18
Microretrognathia, Short stature, Camptodactyly of finger, Spina bifida, Cachexia, Cryptorchidism... ORPHA:3380
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Short stature, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Ost... ORPHA:93160
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Chronic lymphocytic ... ORPHA:95512
Infant Botulism
Hyponatremia, Cardiac arrest, Bowel incontinence, Abdominal pain, Anorexia, Xerostomia, Hypertens... ORPHA:178478
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis, Chronic hemol... OMIM:618278
Thrombocytopenia 1
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... OMIM:313900
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Cho... ORPHA:94093
Pyle Disease
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... OMIM:265900
Drug-Induced Lupus Erythematosus
Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki... ORPHA:231111
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long ... OMIM:244460
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir... ORPHA:263455
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Reduced 3-phosphoglycerate dehydrogenase activity, Growth delay, Decreased ... OMIM:601815
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Elevated circulating C-reactive pr... OMIM:612852
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... ORPHA:89936
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Increased circ... ORPHA:343
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w... ORPHA:64744
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Anorexia, Tachypnea, Leukopenia, Recurrent hypoglycemia, Hepatomegaly, Leukocytosis, Dilat... ORPHA:20
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Recurrent urinary tract infections, Aganglionic megacolon, Abnormal hemoglob... ORPHA:847
Dyskeratosis Congenita, Digenic
Decreased testicular size, Failure to thrive, Short stature, Recurrent infections, Decreased circ... OMIM:620040
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Chronic fatigue, Anorexia, Diarrhea, Hyperkalem... ORPHA:361
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Increased circulating lactate ... ORPHA:71275
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Abnormality of the pancre... ORPHA:935
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Intr... OMIM:619055
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... ORPHA:652
Farber Disease
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Flexion contracture, Hepat... ORPHA:333
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm... OMIM:619795
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Elevated circ... ORPHA:1652
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Dyspnea, Leukopenia, Pa... OMIM:255125
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Recurrent respiratory infections, Short stature, Cachexia, Postaxial hand poly... ORPHA:1389
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Ost... ORPHA:666
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Increased cir... ORPHA:91500
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Abnormal circulating enzyme concentration or activi... ORPHA:51208
Pituitary Apoplexy
Nausea and vomiting, Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:95613
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Birk-Aharoni Syndrome
Macrocytic anemia, Micrognathia, Cryptorchidism, Absent patellar reflexes, Tube feeding, Failure ... OMIM:620071
Nephrotic Syndrome, Type 6
Hypoalbuminemia, Minimal change glomerulonephritis OMIM:614196
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Persistence of primary teeth, Overweight, Patent ductus arteriosus, Recurrent pneu... OMIM:619769
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Anterior encephalocele, Foot oligodactyly, Amelia OMIM:601357
Familial Hypoaldosteronism
Hyponatremia, Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Hyperkalemia, ... ORPHA:427
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Protruding tongue, Coxa valga, Splenomegaly, Joint stiffness, Patent ductus arterio... OMIM:230600
Coffin-Lowry Syndrome
Short stature, Rectal prolapse, Narrow palate, Mitral regurgitation, High palate, Decreased body ... OMIM:303600
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly ORPHA:79292
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Fatigue, Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis... ORPHA:293978
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Episodic vom... OMIM:612736
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocysti... ORPHA:79282
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Short s... ORPHA:388
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Elevated circulating C-reactive protein concentration, Crackles... ORPHA:319213
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast... ORPHA:379
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Hyperlipidemia, Flexion contracture, Insulin-resistant diabetes mellitus, Hyperinsu... OMIM:608612
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... OMIM:598500
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Hypophosphatemic rickets, Male hy... OMIM:219800
Scleromyxedema
Abnormality of the gastrointestinal tract, Transient ischemic attack, Elevated circulating creati... ORPHA:167635
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Sepsis, High palate, Vomiting, Hepatic steatosis, Accessory spl... OMIM:619418
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Diarrhea, Uveitis, Inflammatory abn... ORPHA:36412
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Apnea, Gastroesophageal reflux, Aspiration pneumonia, Hypothyroidism, Joint laxity, H... ORPHA:438213
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... OMIM:612447
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocyto... OMIM:260920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Ataxia, Elevated circulating creatine kinase concentration, Short stature, Chorea, Feeding diffic... OMIM:615356
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Low... OMIM:201100
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Anorexia, Right ventricular failure, Abdominal pain, Bowel urgency, Lack... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Anorexia, Right ventricular failure, Abdominal pain, Bowel urgency, Lack... ORPHA:100082
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorpt... ORPHA:309108
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Congenital Disorder Of Glycosylation, Type It
Elevated circulating creatine kinase concentration, Micrognathia, Vomiting, Hepatic steatosis, Bi... OMIM:614921
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Short stature, Diabetes insipidus, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal ... ORPHA:423479
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, High palate, Hypoca... ORPHA:2785
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Right ventricular failure, Abdominal pain, Bowel urgency, Lack... ORPHA:100080
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Angina pectori... ORPHA:412
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... OMIM:620300
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Short stature, Small for gestational age, Malabsorption, Asthma, Chronic ... OMIM:601675
Say-Barber-Miller Syndrome
Micrognathia, Patellar hypoplasia, Abnormal T cell morphology, Knee flexion contracture, High pal... ORPHA:3132
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Feeding difficulties in infancy, Fasting hyperinsulinemia, Hepatic necrosi... ORPHA:71212
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Erythrokeratodermia Variabilis
Diabetes mellitus, Skin rash, Short stature, Tapered finger, Patchy palmoplantar hyperkeratosis, ... ORPHA:317
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Failure to thrive, ... OMIM:615512
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Toxic Epidermal Necrolysis
Acute hepatic failure, Respiratory distress, Intestinal perforation, Sepsis, Conjunctivitis, Coug... ORPHA:537
Digeorge Syndrome
Impaired T cell function, Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thy... OMIM:188400
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... ORPHA:79456
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Dysphagia, Gastrostomy tube... ORPHA:300605
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Leukopenia, Tubulointersti... ORPHA:797
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Peritonitis, Hypoalbuminemia, Abdominal pain ORPHA:656
Pediatric Hepatocellular Carcinoma
Fatigue, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Hepatic necrosis, ... ORPHA:33402
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Feeding difficulties in infancy, Paroxysmal atr... ORPHA:3282
Interstitial Lung Disease 2
Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Increased circulating antibody level, Cirr... OMIM:178500
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Short stature, Micrognathia, Cleft palate, Feeding diffi... OMIM:606164
Stevens-Johnson Syndrome
Acute hepatic failure, Abnormality of neutrophils, Myocardial infarction, Sepsis, Conjunctivitis,... ORPHA:36426
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Perlman Syndrome
Hepatomegaly, Micrognathia, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology, Hy... ORPHA:2849
Marfan Syndrome
Osteopenia, Pes planus, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow ... ORPHA:558
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Carious teeth, Thrombocytopenia, Dyspnea, Osteoporosis, Hepatic ... OMIM:127550
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Short palm, Brachydactyly ORPHA:3217
Japanese Encephalitis
Respiratory distress, Hyponatremia, Neutrophilia, Genu recurvatum, Stiff neck, Anorexia, Abdomina... ORPHA:79139
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Increased bone mineral density, Hepatomegaly, Spl... ORPHA:77261
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... ORPHA:280356
Polycythemia Vera
Gastrointestinal hemorrhage, Myelofibrosis, Hepatomegaly, Angina pectoris, Epistaxis, Myelodyspla... ORPHA:729
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal cardiovascular system physiology, Abnormal ... ORPHA:50251
Fanconi Anemia, Complementation Group O
Cryptorchidism, Rectal atresia, Anal atresia OMIM:613390
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... ORPHA:79474
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Short stature, Hyperlipidemia, Hyperinsulinemia, Obesity, Hypergly... ORPHA:329249
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Elevated circulating creatinine concentration, Bronchiectasis, ... OMIM:619468
Frontometaphyseal Dysplasia 2
Congenital hip dislocation, Elbow contracture, Feeding difficulties in infancy, Short metatarsal,... OMIM:617137
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... ORPHA:276152
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... ORPHA:93333
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Unilateral cryptorchidism, Micrognathia, Cleft palate, Persistence of hemoglob... OMIM:300946
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating creatine kinase concentration, Cardiac arrest, Ventricular tachycardia, Atri... OMIM:212138
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Recurrent viral infections, Otitis medi... ORPHA:420741
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Micrognathia, Flexion contracture, Neonatal respiratory distress, Acanthocytos... OMIM:618947
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Feeding difficulties, Hyposerinemia, Gastroesophageal reflux, Esoph... ORPHA:79350
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Tibialis muscle weakness, High, narrow palate, Respiratory insufficien... ORPHA:98897
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Bowing of the long bones, Short stature, Retinal telangiectasia, Metaphyseal sclerosi... OMIM:612199
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Anorexia, Poor appetite, Peritoneal abscess, Pancreatic adenocarci... ORPHA:1333
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Abdominal pain, Pulmonary embolism, Dyspnea, Hyperlipidemia, P... ORPHA:567546
Necrotizing Enterocolitis
Shock, Hyponatremia, Neonatal sepsis, Small for gestational age, Abdominal distention, Diarrhea, ... ORPHA:391673
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Diarrhea, Osteoporosis, Rickets, Vomiting, Type I diabetes mellitus, Failure to thrive OMIM:560000
Combined Oxidative Phosphorylation Deficiency 55
Short stature, Elevated circulating creatine kinase concentration, Thrombocytopenia, Hypophosphat... OMIM:619743
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Mogs-Cdg
Respiratory distress, Hypoventilation, Hepatomegaly, Apnea, Nasogastric tube feeding, Retrognathi... ORPHA:79330
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Cutaneous Mastocytoma
Telangiectasia of the skin, Maculopapular exanthema, Abdominal pain, Diarrhea, Vomiting, Hypotens... ORPHA:79455
Familial Benign Copper Deficiency
Acne, Decreased circulating copper concentration, Short stature, Diaphyseal thickening, Anemia ORPHA:1551
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Abdominal... ORPHA:31150
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Bronchial Neuroendocrine Tumor
Poor appetite, Anorexia, Nonproductive cough, Hepatomegaly, Tricuspid regurgitation, Chronic noni... ORPHA:97287
Poliomyelitis
Fatigue, Exercise intolerance, Anorexia, Meningitis, Paralytic ileus, Hypertension, Hypovolemic s... ORPHA:2912
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Short stature, Hypo... OMIM:616026
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly, ... OMIM:151660
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Growth delay, Hypokalemia, Vomiting, Failure to thrive OMIM:602722
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Se... ORPHA:95455
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension, Respirato... ORPHA:363400
Grant Syndrome
Bowing of the long bones, Short stature, Micrognathia, Joint hyperflexibility, Abnormal pelvic gi... ORPHA:2097
Fanconi Renotubular Syndrome 3
Short stature, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Growth... OMIM:615605
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Cystic angiomatosis of bone, Acute pancreatitis, Hypertriglyceridemia, Hep... OMIM:608594
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulcerat... ORPHA:436252
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Elevate... ORPHA:131
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Respiratory distress, Eczema, Anorexia, Tachypnea, Hyperammonemia, Keratocon... ORPHA:79242
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Multiple lipomas, ... ORPHA:210548
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Osteomalacia, Poor appetite, Respiratory insufficiency due to mu... ORPHA:18
Hyperlipoproteinemia, Type I
Splenomegaly, Pancreatitis, Hyperlipidemia, Jaundice, Episodic abdominal pain, Hepatosplenomegaly... OMIM:238600
Hypophosphatemic Rickets, Autosomal Dominant
Short stature, Osteomalacia, Abnormality of the lower limb, Rickets, Elevated circulating alkalin... OMIM:193100
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Immunodeficiency 17
Chronic oral candidiasis, Autoimmune hemolytic anemia, Recurrent respiratory infections, Eczema, ... OMIM:615607
Parathyroid Carcinoma
Abnormal parathyroid morphology, Elevated circulating parathyroid hormone level, Thyroid carcinom... ORPHA:143
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Hypoplasia of the thymus, High palate, Abn... ORPHA:861
Cat Eye Syndrome
Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, R... OMIM:115470
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Neutropenia, Decreased circul... OMIM:271510
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ... ORPHA:767
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Peptic ulcer, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Multiple... OMIM:600740
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hyperlipidemia, Delayed... OMIM:232200
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Anorexia, Abdominal pain, Productive cough, Diffuse alveolar hemorrhage,... ORPHA:520
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Glucose intolerance, ... OMIM:619127
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Cholangitis, Micrognathia, Short metatarsal, High palate, Hepatic fibrosis, Clinodact... OMIM:266920
Obesity Due To Sim1 Deficiency
Short stature, Obesity, Feeding difficulties, Hypotension, Postural hypotension with compensatory... ORPHA:369873
Localized Scleroderma
Fasciitis, Raynaud phenomenon, Flexion contracture, Abnormality on pulmonary function testing, Va... ORPHA:90289
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Orchitis, Ur... ORPHA:556
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Anorexia, Diarrhea, Leukocytosis, Tachypnea, Hyperammonemia, Weight l... ORPHA:134
Esophageal Atresia
Respiratory distress, Maternal diabetes, Feeding difficulties in infancy, Gastrointestinal dysmot... ORPHA:1199
Mucolipidosis Type Ii
Knee flexion contracture, Abnormal long bone morphology, Otitis media, Telangiectases of the chee... ORPHA:576
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Feeding difficulties, Increased mean ... OMIM:613839
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatini... OMIM:154230
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly... ORPHA:166277
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Mowat-Wilson Syndrome
Mandibular prognathia, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Calcaneovalgus ... ORPHA:2152
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Lassa Fever
Nausea and vomiting, Shock, Abdominal pain, Cough, Dyspnea, Diarrhea, Jaundice, Sepsis, Increased... ORPHA:99824
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperammonemia, Cardio... ORPHA:159
Erdheim-Chester Disease
Nausea and vomiting, Increased bone mineral density, Osteomyelitis, Skin rash, Hypogonadotropic h... ORPHA:35687
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Slc39A8-Cdg
Osteopenia, Decreased mitochondrial complex III activity in liver tissue, Short stature, Sudden e... ORPHA:468699
Spastic Paraplegia 84, Autosomal Recessive
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Ankle clonus, Crohn's disea... OMIM:619621
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Systemic Capillary Leak Syndrome
Fatigue, Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Myalgia, Multiple myel... ORPHA:188
Tuberculosis
Weight loss, Cough ORPHA:3389
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,... OMIM:109130
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Post... ORPHA:453533
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia OMIM:612563
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Abnormality of the lower limb, Soft tissue sarcoma, Wei... ORPHA:2023
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia OMIM:258360
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Abn... OMIM:214500
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... ORPHA:970
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hypert... ORPHA:79084
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Lathosterolosis
Bilobate gallbladder, Micrognathia, High palate, Increased mean platelet volume, Acanthocytosis, ... OMIM:607330
Catel-Manzke Syndrome
Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula, Joint laxit... OMIM:616145
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul... ORPHA:171851
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Hepatomega... ORPHA:667
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure... OMIM:614817
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc... ORPHA:480520
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice... OMIM:274150
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Recurrent infections due t... OMIM:223900
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97278
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Obesity, Cholestasis, Increased LDL cholesterol concentration, A... ORPHA:209902
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Pituitary adenoma, Hypotension, Trigeminal neuralgia ORPHA:91354
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension OMIM:620125
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Childho... ORPHA:71529
Prader-Willi Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Feeding difficulties in infanc... OMIM:176270
Congenital Isolated Acth Deficiency
Hyponatremia, Fatigue, Hyperkalemia, Hepatitis, Hypotension ORPHA:199296
Mercury Poisoning
Tachycardia, Anorexia, Episodic abdominal pain, Hypertension, Hypokalemia, Interstitial pneumonit... ORPHA:330021
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets, Generalized aminoaciduria,... OMIM:613388
Immunodeficiency 9
Respiratory insufficiency due to muscle weakness, Chronic diarrhea, BCGitis, Recurrent infections... OMIM:612782
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Hypercholesterolemia, Sm... OMIM:606721
Hereditary Methemoglobinemia
Small for gestational age, Cyanosis, Methemoglobinemia, Exertional dyspnea ORPHA:621
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Occipital Horn Syndrome
Joint laxity, Pes planus, Short humerus, Decreased circulating ceruloplasmin concentration, Decre... OMIM:304150
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia, Micro... ORPHA:2538
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Coxa vara, Gastroesophageal reflux, Clinodactyly of ... ORPHA:3342
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Alagille Syndrome 1
Elevated hepatic transaminase, Hypoplasia of the ulna, Failure to thrive, Hypertriglyceridemia, E... OMIM:118450
Interstitial Lung And Liver Disease
Aminoaciduria, Vomiting, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cough, Hypot... OMIM:615486
Multiple Endocrine Neoplasia, Type I
Zollinger-Ellison syndrome, Pituitary prolactin cell adenoma, Prolactinoma, Carcinoid tumor, Incr... OMIM:131100
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... ORPHA:79078
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein concentr... OMIM:613095
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the skeletal system, Cough, Dyspnea, Tracheoesophageal fistula,... ORPHA:142
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Postaxial polydactyly, Bilateral cryptorchid... OMIM:619471
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Gastritis, Congestive hea... ORPHA:31826
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei OMIM:615578
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Abnormality on pulmonar... ORPHA:133
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis, Acrocy... ORPHA:3165
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Weight loss,... ORPHA:545
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Recurrent respira... ORPHA:2484
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Elevated hepatic transaminase, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Corticosteroid-Binding Globulin Deficiency
Fatigue, Hypertension, Hypokalemia, Asthenia, Hypotension OMIM:611489
Fanconi Renotubular Syndrome 1
Short stature, Osteomalacia, Rickets, Glycosuria, Hypokalemia, Aminoaciduria, Elevated circulatin... OMIM:134600
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Clinodactyly, Clinodactyly of the 5th finger, Finger syndact... ORPHA:2710
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Elevated circulating alkaline phosphatase concentration, Hy... OMIM:174810
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Cholera
Hyponatremia, Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentrati... ORPHA:173
Seckel Syndrome
Sandal gap, Short stature, Craniosynostosis, Micrognathia, Abnormal dental enamel morphology, Cac... ORPHA:808
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Short stature, Ganglioneuroblastoma, Impaired pain sensation, Celiac disease, Narco... ORPHA:293987
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Reticulocytopenia, Leukopenia, Neutropenia, Short metacarpal, Tricuspid regurgitation, Short stat... ORPHA:508542
Dyskeratosis Congenita, X-Linked
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Leukopenia, Conjunctivitis, Short... OMIM:305000
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hyp... ORPHA:79644
Lesch-Nyhan Syndrome
Short stature, Megaloblastic anemia, Hip dislocation, Vomiting, Hyperuricemia, Dysphagia, Testicu... OMIM:300322
Estrogen Resistance Syndrome
Osteopenia, Acne, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase,... ORPHA:785
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Rabson-Mendenhall Syndrome
Mandibular prognathia, Fasting hyperinsulinemia, High palate, Fasting hypoglycemia, Advanced erup... ORPHA:769
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Club... ORPHA:1525
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Fryns-Smeets-Thiry Syndrome
Short stature, Arachnodactyly, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Joint h... ORPHA:2058
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Poor appetite, Micrognathia, Feeding diffi... ORPHA:96182
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Short stature, Joint stiffness... ORPHA:1493
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Aa Amyloidosis
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Hypotension, Nausea ORPHA:85445
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Short stature, Micrognathia, Patent ductus arteriosus, R... OMIM:613309
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... ORPHA:71526
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Spina bifida, Trismus, Submucous cleft hard p... ORPHA:2671
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Absent thumb, Cr... OMIM:603467
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxygen desaturati... ORPHA:60025
Focal Myositis
Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh... ORPHA:48918
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... OMIM:277400
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Recurrent fractures, Hypercalcemia, Feeding difficulties in infancy, Sp... OMIM:239200
Giant Cell Arteritis
Pericarditis, Diabetes insipidus, Epistaxis, Anorexia, Abdominal pain, Joint stiffness, Sudden ca... ORPHA:397
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Abdominal pain, Dyspnea, Hypoxemia, Syncope, Vomitin... ORPHA:464453
Pitt-Hopkins Syndrome
Short metatarsal, Narrow foot, Finger clinodactyly, Gastroesophageal reflux, Acrocyanosis, Hyperv... ORPHA:2896
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Myelodysplasia, Portal hypertension, Cryptorchidism, Anemia, Squamous cell carcinoma ... OMIM:620365
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Hypertens... OMIM:602088
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Recurrent pneumonia, Recurrent bacterial infections, Period... OMIM:608233
Saccharopinuria
Citrullinuria, Short stature, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnorm... ORPHA:3124
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Abdominal pain, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Aspartylglucosaminuria
Mandibular prognathia, Pes planus, Recurrent respiratory infections, Aspartylglucosaminuria, Hepa... ORPHA:93
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Glomerulonephritis, Abdominal pain, Dyspnea, Elevated ... ORPHA:93126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Hypertension, Decreased circulating comple... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Hypertension, Decreased circulating comple... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Hypertension, Decreased circulating comple... OMIM:612926
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Mild postnatal growth retardation, Abnormal metatarsa... ORPHA:85408
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... OMIM:620138
Kearns-Sayre Syndrome
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Short stature, Primary adrenal insuf... OMIM:530000
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... ORPHA:435934
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Huntington Disease
Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Oral-phar... ORPHA:399
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Hypertension, Decreased circulating comple... OMIM:612925
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive... ORPHA:94080
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... ORPHA:30391
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Severe short stature, Dilated cardiomyopathy, Feeding difficulties, Grow... ORPHA:2556
Hennekam-Beemer Syndrome
Fatigue, Telangiectasia of the skin, Pneumonia, Short stature, Abdominal pain, High palate, Vomit... ORPHA:2135
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... ORPHA:2636
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Dyspnea... ORPHA:75566
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Alström Syndrome
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... ORPHA:64
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Pancreatic hyp... ORPHA:83617
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Short stature, Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th... ORPHA:220295
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Cough, Achalasia, Tracheobronchial leiom... ORPHA:1018
Scrub Typhus
Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Myocarditis, Myalgia, Hypotensi... ORPHA:83317
Chromosome 5Q12 Deletion Syndrome
Postnatal growth retardation, Patent ductus arteriosus, Macroglossia, Hypotension, Decreased body... OMIM:615668
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris OMIM:614025
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia OMIM:146350
Wolfram Syndrome
Gastrointestinal hemorrhage, Central apnea, Recurrent urinary tract infections, Diabetes mellitus... ORPHA:3463
Hydroxykynureninuria
Stomatitis, Abnormal circulating tryptophan concentration, Tachycardia, Hypotension ORPHA:79155
Rat-Bite Fever
Pericarditis, Parotitis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus... ORPHA:31205
17Q11 Microdeletion Syndrome
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Bowing of the legs, Elevated circulating p... ORPHA:97685
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Carious teeth, Abnormal foot morphology, Rickets, Low alkaline... OMIM:146300
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Elevated systolic bl... OMIM:300539
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Atelis Syndrome 2
Pes planus, Micrognathia, Dyspnea, Patent ductus arteriosus, Elevated circulating thyroid-stimula... OMIM:620185
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Diarrhea, Hypovolemia, Abnormal blood ion co... ORPHA:31824
Donohue Syndrome
Postnatal growth retardation, Abdominal distention, Precocious puberty, Hyperinsulinemia, Cholest... OMIM:246200
Behçet Disease
Myositis, Anorexia, Pulmonary embolism, Myocardial infarction, Infectious encephalitis, Meningiti... ORPHA:117
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Large for gestational age, Feeding difficulties in infancy, Leiomyosarcoma... ORPHA:116
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia... ORPHA:221
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone... ORPHA:1486
Autosomal Recessive Primary Microcephaly
Growth delay, Abnormal cortical bone morphology, Short stature ORPHA:2512
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... OMIM:619097
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity OMIM:618406
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Lymphadenopathy, Ne... ORPHA:2221
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Elevated circulating alpha-fetoprotein concentration, Feeding difficulties in infa... ORPHA:280633
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Fatigue, Ataxia, Elevated circulating creatine kinase concentration, Nause... ORPHA:466650
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Feeding difficulties, Growth delay, Anemia, Aminoaciduria, Elevated... OMIM:614946
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Congestive heart failure, Pulmonary carcinoid tumor, Papillary renal cell c... ORPHA:363618
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Skin rash, Diarrhea, Vasculitis, Osteoporosis, Increased serum zinc OMIM:601979
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... ORPHA:276608
Estrogen Resistance
Osteopenia, Increased circulating osteocalcin level, Acne, Impaired glucose tolerance, Elevated a... OMIM:615363
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Short toe, Hyperinsulinemia, Obesi... ORPHA:3085
Osteosarcoma
Abnormal femoral metaphysis morphology, Increased circulating lactate dehydrogenase concentration... ORPHA:668
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Intestinal malrotation, Recurrent mycobacterial infections, B... ORPHA:244
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Mandibular prognathia, Decreased circulating total IgM, Decreased circulating IgG level, Decrease... OMIM:300861
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Mediastinal lym... ORPHA:79128
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Dyspnea, Pedal edema, Weight loss, Neop... ORPHA:168811
African Trypanosomiasis
Urinary incontinence, Impaired proprioception, Choreoathetosis, Arthralgia, Vomiting, Conjunctivi... ORPHA:3385
Leptospirosis
Nausea and vomiting, Pericarditis, Skin rash, First degree atrioventricular block, Abdominal pain... ORPHA:509
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Exaggerated startle response, Short femur, Short stature, Tapered finger, Feeding ... OMIM:618367
Central Diabetes Insipidus
Nausea and vomiting, Hyponatremia, Anorexia, Diarrhea, Weight loss, Failure to thrive, Diabetes i... ORPHA:178029
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Pers... ORPHA:93325
Copper Deficiency, Familial Benign
Failure to thrive, Decreased circulating copper concentration, Anemia, Seborrheic dermatitis OMIM:121270
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Apnea, Micromelia, Feeding difficulties in infancy, Metaphyseal... ORPHA:3206
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:617395
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Tubulointerstitial nephritis, Hypertension, ... OMIM:174000
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Poor appetite, Elevated... ORPHA:411634
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... OMIM:277410
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Hypertriglyceridemia, Carcinoma, Palmoplantar keratoderma, Palmoplantar hype... OMIM:610644
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Short stature, Micrognathia, Persistence of hemoglobin F, Retrognathia, Joint hypermobility OMIM:617101
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Chest tightness, Recurrent pneumonia, Chest pain, Es... ORPHA:3348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612924
Microphthalmia, Syndromic 1
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Growth delay, High... OMIM:309800
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Acute Radiation Syndrome
Fatigue, Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis... ORPHA:454831
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Growth delay, Glyco... ORPHA:411629
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Diarrhea, C... ORPHA:411703
Inhalational Anthrax
Fatigue, Sepsis, Vomiting, Hypotension, Internal hemorrhage ORPHA:247257
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Hypotension, Failure to ... ORPHA:90791
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Short tub... ORPHA:85184
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Short stature, Small for gestational age, Hypoglycemia, Precocious puberty... OMIM:262190
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h... ORPHA:740
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Choreoacanthocytosis
Hepatomegaly, Temporomandibular joint crepitus, Elevated circulating creatine kinase concentratio... ORPHA:2388
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... ORPHA:2769
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Bowel incontinence, Myocardial infarction, Congestive heart failure, ... ORPHA:330001
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Pneumonia, Sepsis, Bradycardia, Hypotension ORPHA:70587
Huntington Disease-Like 2
Weight loss ORPHA:98934
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula... OMIM:606002
Lethal Congenital Contracture Syndrome 10
Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, Hypoplasi... OMIM:617022
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration, Abnormal intestine morphology ORPHA:209981
Diamond-Blackfan Anemia 4
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia OMIM:612527
Neuroblastoma, Susceptibility To, 1
Ganglioneuroblastoma, Abdominal pain, Diarrhea, Weight loss, Hypertension, Neuroblastoma, Failure... OMIM:256700
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abdominal pain, Malabsorption, Dyspnea, Abnorma... ORPHA:79430
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Severe short stature, Abnormal atrioventricular conduction, Proport... ORPHA:3208
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Feeding difficulties, Short 4th metacar... OMIM:619638
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Rickets, Hypophosphatemic rickets, Elevated ci... OMIM:612089
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogo... ORPHA:91347
Asthma, Short Stature, And Elevated Iga
Asthma, Short stature, Increased circulating IgA level OMIM:208600
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Renal hypophosphatemia, Osteomalacia, Peptic ulcer, Hypercalcemia, Hypermagn... ORPHA:405
Autosomal Dominant Hypocalcemia
Eczema, Abdominal pain, Congestive heart failure, Hyperphosphatemia, Paresthesia, Hypocalcemia, H... ORPHA:428
Mednik Syndrome
Jejunal atresia, Diarrhea, Cholestasis, Growth delay, Hepatic fibrosis, Increased circulating ver... OMIM:609313
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Short stature, Long fingers, Cryptorchidism, Cleft palate, Growth delay, Polys... OMIM:614294
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abd... ORPHA:99921
Chromomycosis
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca ORPHA:182
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Gastroparesis, Dilated cardiomyopathy, Respiratory insufficiency, ... OMIM:607459
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Gastroesophageal reflux, Intrauterine growth retardation, Hypothyro... OMIM:620186
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Vomiting, Premature adrenarche, Hypo... ORPHA:90794
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Decreased resp... ORPHA:1896
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Hypogonad... ORPHA:163746
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Reynolds Syndrome
Gastrointestinal hemorrhage, Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema no... OMIM:613471
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Polycystic liver disease, Pancreatic cysts, Elevated circulat... ORPHA:730
Retinitis Pigmentosa
Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Diamond-Blackfan Anemia 5
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Alexander Disease
Nausea and vomiting, Ataxia, Sudden cardiac death, Bowel incontinence, Chorea, Hypertension, High... ORPHA:58
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Short stature, Anorexia, Cachexia, Abnormality of the thyroid gland, Short har... ORPHA:1969
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Diarrhea, Primary hyperparathyroidism, Elevated circulating calc... ORPHA:1332
Wrinkly Skin Syndrome
Osteopenia, Pes planus, Recurrent sinopulmonary infections, Congenital hip dislocation, Short sta... ORPHA:2834
Renal Tubular Acidosis Iii
Hypokalemia, Rickets, Osteomalacia OMIM:267200
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level, Vasculitis in the skin ORPHA:90000
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Paresthesia, Vomitin... ORPHA:100050
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbing, Bronchiectasis, Wheezing, ... ORPHA:79127
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Constipation, High nonceruloplasmin-bound serum copper, Retrognathia, Thrombocytopenia, Gastrosto... ORPHA:457351
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... ORPHA:2658
Erythrocytosis, Familial, 2
Fatigue, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Hemangioma, Failure t... OMIM:263400
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... OMIM:105600
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Hypercalcemia, Infantile, 1
Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss, Vomiting, Failure to... OMIM:143880
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Sepsis, Conjun... ORPHA:31204
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Increased susceptibility to fractures, Weight loss, Aspiration pneumonia, Cough ORPHA:216866
Subcorneal Pustular Dermatosis
Hyperthyroidism, Pustule, Increased circulating antibody level, Multiple myeloma, Rheumatoid arth... ORPHA:48377
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... OMIM:127000
9Q33.3Q34.11 Microdeletion Syndrome
Epistaxis, Cryptorchidism, Asthma, Patellar aplasia, Patent ductus arteriosus, Patellar hypoplasi... ORPHA:495818
Post-Traumatic Pituitary Deficiency
Fatigue, Growth delay, Hypotension, Delayed puberty ORPHA:95619
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Feeding difficulties in infancy, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Gastroe... ORPHA:500150
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... OMIM:137920
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Cortical irregularity, Acne, Micrognathia, Metatarsus adduc... OMIM:249420
Riddle Syndrome
Decreased circulating IgG level, Short stature OMIM:611943
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad metacarpals, Short metacarpal, Sh... OMIM:608328
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Restrictive Dermopathy
Osteopenia, Aplasia/Hypoplasia of the clavicles, Natal tooth, Multiple joint contractures, Campto... ORPHA:1662
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Nephroblastoma
Abdominal pain, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hypertension, Neoplasm,... ORPHA:654
Short Syndrome
Severe short stature, Diabetes mellitus, Abnormal dental enamel morphology, Poor appetite, Abnorm... ORPHA:3163
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Sinus tachycardia, Hypercalcemia, ... ORPHA:276621
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Okur-Chung Neurodevelopmental Syndrome
Brachydactyly, Failure to thrive, Broad hallux, Protruding tongue, Micrognathia, Decreased circul... OMIM:617062
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Cyanosis, Crackles, Dyspnea, Clubbing, Intraalveolar ... ORPHA:747
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Asthma, ... OMIM:617321
Nk-Cell Enteropathy
Increased T cell count ORPHA:263665
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Short stature, Split hand, Foot polydactyly, Phocomelia, Duodenal atresia ORPHA:3004
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion ORPHA:289601
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis, Obesity OMIM:620195
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Polycythemia, Growth delay, Methemoglobinemia, Exertional dyspnea OMIM:250800
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Elevated g... OMIM:243800
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Sinus t... ORPHA:29072
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Bowel incontinence, Dysesthesia, Dysmetria, Gait ataxia, Hypertension, Myalgia, Hypotensi... ORPHA:93256
Thyrotoxic Periodic Paralysis
Thyrotoxicosis with diffuse goiter, Impaired myocardial contractility, Respiratory paralysis, Mil... ORPHA:79102
Encephalitis Lethargica
Stiff neck, Bowel incontinence, Recurrent viral infections, Increased circulating antibody level,... ORPHA:83600
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Choreoathetosis, Athetosis, Gastroesophageal reflux, C... OMIM:608643
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Pes planus, Abnormal circulating creatine kinase concentration, Cardiomyopathy, Abnormal circulat... ORPHA:521411
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Poor appetite, Micrognathia, Nasogastric tube feeding in infancy, Fle... ORPHA:2020
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Short stature, Recurrent fracture... OMIM:309583
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Attrv30M Amyloidosis
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhythmia ORPHA:85447
Myeloma, Multiple
Paraproteinemia, Multiple myeloma OMIM:254500
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Increased su... ORPHA:3337
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Short stature, Small for gesta... OMIM:601678
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia, Triphalangeal thumb OMIM:615550
Malt Lymphoma
Nausea and vomiting, Recurrent respiratory infections, B-cell lymphoma, Abdominal pain, Abnormali... ORPHA:52417
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Hypovolemia, Feeding difficulties, Abnormal circulating cholesterol c... ORPHA:168558
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Failure to thrive, Severe short stature, High, narrow palate, S... ORPHA:2753
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Acrodermatitis Enteropathica
Short stature, Poor appetite, Malabsorption, Anorexia, Pustule, Chronic diarrhea, Cheilitis, Furr... ORPHA:37
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Hypovolemia, Feeding difficulties, Abnormal circulating cholesterol c... ORPHA:289548
Hellp Syndrome
Back pain, Fatigue, Shoulder pain, Cerebral hemorrhage, Abdominal pain, Nausea, Increased body we... ORPHA:244242
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concen... OMIM:164310
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Progeroid Short Stature With Pigmented Nevi
Esophageal ulceration, Impaired T cell function, Allergic rhinitis, Recurrent viral infections, S... OMIM:176690
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviat... ORPHA:1227
Spondyloocular Syndrome
Long toe, Pes planus, Osteopenia, Unilateral cryptorchidism, Arachnodactyly, Duodenal ulcer, Femu... OMIM:605822
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Severe short stature, Elevated circulating creatinine concentration OMIM:242530
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Pes planus, Short stature, Proximal placement of thumb, Micrognathia, Taper... ORPHA:251071
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Hereditary Central Diabetes Insipidus
Diarrhea, Weight loss, Growth delay, Vomiting, Diabetes insipidus ORPHA:30925
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Short stature, Glycosuria OMIM:268315
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Pain insensitivity, Ataxia, Skin rash, Diarrhea, Hepatitis, H... ORPHA:90062
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration, Abdominal pain OMIM:614723
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Cutaneous syndactyly, Respiratory f... OMIM:617666
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni... OMIM:619351
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Short stature, Small for gestational age, Dia... OMIM:241200
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Velocardiofacial Syndrome
Short stature, Impaired T cell function, Velopharyngeal insufficiency, Submucous cleft hard palat... OMIM:192430
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Isaacs Syndrome
Calf muscle hypertrophy, Weight loss ORPHA:84142
Bullous Pemphigoid
Diabetes mellitus, Psoriasiform dermatitis, Eczema, Weight loss, Recurrent infections ORPHA:703
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Hepatomegaly, Seborrheic dermatitis, Micrognathia, Large for gestational age, Mi... OMIM:300868
Weill-Marchesani Syndrome 1
Thin bony cortex, Short stature, Proportionate short stature, Joint stiffness, Hypoplasia of the ... OMIM:277600
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... ORPHA:33577
Acute Transverse Myelitis
Orthostatic hypotension, Invasive parasitic infection, Gastroparesis, Abscess, Decreased circulat... ORPHA:139417
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Schwannoma, Jaw claudication, Feeding diffi... ORPHA:221098
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... OMIM:617952
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... ORPHA:100086
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Obesity, Hypotension ORPHA:439822
Generalized Arterial Calcification Of Infancy
Respiratory distress, Adrenal calcification, Abnormal calcification of the carpal bones, Vomiting... ORPHA:51608
Papillorenal Syndrome
Joint laxity, Hypertension, Elevated circulating creatinine concentration, Short stature OMIM:120330
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Hypotension OMIM:607364
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Micrognathia, Cryptor... OMIM:619326
Serotonin Syndrome
Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Nausea, Mydriasis ORPHA:43116
Huntington Disease-Like 2
Weight loss OMIM:606438
Juvenile Huntington Disease
Weight loss ORPHA:248111
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Neoplasm, Constipation ORPHA:168816
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia, Gout ORPHA:79233
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... OMIM:275000
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Abnormality of circulating enzyme ... ORPHA:93598
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Diabetes mellitus, Intestinal malrotation, Patent ductus a... OMIM:600001
Thymic Carcinoma
Neoplasm of the thymus, Dyspnea, Mediastinal lymphadenopathy, Weight loss, Cough ORPHA:99868
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Sepsis, Recu... ORPHA:764
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Myelodysplasia, Splenomegaly, Chronic myelogen... ORPHA:71493
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Woodhouse-Sakati Syndrome
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, ... ORPHA:3464
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Methemoglobinemia, ... OMIM:250790
Oromandibular Dystonia
Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, W... ORPHA:93958
Oligomeganephronia
Branchial cyst, Small for gestational age, Micrognathia, Elevated circulating creatinine concentr... ORPHA:2260
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter OMIM:188580
Autosomal Dominant Epidermolytic Ichthyosis
Poor appetite, Weight loss, Palmoplantar keratoderma, Erythroderma, Conjunctival hamartoma ORPHA:312
Huntington Disease-Like 1
Abnormal shoulder morphology, Weight loss ORPHA:157941
Niemann-Pick Disease Type C
Ataxia, Narcolepsy, Chorea, Feeding difficulties, Progressive gait ataxia, Aspiration pneumonia, ... ORPHA:646
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Failure to thrive, Abnormality of circulating e... ORPHA:35706
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Narcolepsy 7
Narcolepsy, Obesity OMIM:614250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hy... OMIM:276820
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Gastroesophagea... OMIM:134780
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis, Cleft palate, Severe postnatal growth ... ORPHA:2237
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnu... ORPHA:35710
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Respirator... OMIM:614748
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Delayed puberty, Malar flattening, Neoplasm of the e... ORPHA:649
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Aganglionic megacolon, Eczema, Keratitis, Cheilit... ORPHA:2273
Prolactinoma
Fatigue, Nausea and vomiting, Vomiting, Hypotension, Delayed puberty ORPHA:2965
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia, Urinary incontinence ORPHA:314404
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia OMIM:604121
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure OMIM:619431
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Cryoglobulinemia, Familial Mixed
Hypertension, Cryoglobulinemia, Elevated circulating creatinine concentration OMIM:123550
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Chronic diarrhea, Recurrent infection of the g... OMIM:612132
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Jaundi... ORPHA:677
Zinc Deficiency, Transient Neonatal
Decreased serum zinc, Eczema OMIM:608118
Fatal Familial Insomnia
Weight loss, Constipation, Apnea, Dysphagia OMIM:600072
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia, Renal tubular epithelial necrosis OMIM:220150
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Maternal diabetes, Jaundice, Malnutrition, Insulin-dependent b... ORPHA:103918
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Abdominal pain, Weight loss, Syncope, Nausea, Anemia ORPHA:71273
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss, Recurrent in... ORPHA:704
Goodpasture Syndrome
Cyanosis, Glomerulonephritis, Crackles, Increased DLCO, Tachypnea, Increased blood urea nitrogen,... OMIM:233450
Liposarcoma
Nausea and vomiting, Sarcoma, Weight loss, Abdominal pain ORPHA:69078
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Cyanosis, Overlapping toe, Systolic heart murmur OMIM:617478
Gastrointestinal Stromal Tumor
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Large hands, Constipation, D... OMIM:606764
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Weight loss... ORPHA:99978
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 3
Narcolepsy OMIM:609039
Cysticercosis
Iridocyclitis, Stiff neck, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Sepsis, Microcolon OMIM:619362
Homozygous Familial Hypercholesterolemia
Angina pectoris, Myocardial infarction, Sudden cardiac death, Dyspnea, Hyperlipidemia, Heart murm... ORPHA:391665
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro... OMIM:115310
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Perry Syndrome
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest OMIM:168605
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Sacral Defect With Anterior Meningocele
Back pain, Sacral lipoma, Rectal abscess, Constipation, Meningitis OMIM:600145
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level OMIM:114065
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, Lymphadenop... ORPHA:536
Penile Agenesis
Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia ORPHA:49
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Weight loss, Orthostatic hypotension due to autonomic dysfunction, Dysphagia ORPHA:411602
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Weight loss, Lower-... ORPHA:99885
Hereditary Orotic Aciduria
Recurrent respiratory infections, Patent ductus arteriosus, Impaired T cell function ORPHA:30
Non-Acquired Panhypopituitarism
Fatigue, Pituitary dwarfism, Short stature, Growth delay, Constipation, Hypotension, Delayed puberty ORPHA:90695
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thin bony cortex, Short stature, Broad ischia, Diaphyseal dysplasia, Scler... OMIM:619727
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cyanosis, Patent ductus arteriosus, Tachypnea, Hypoplasia of t... ORPHA:3384
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Large for gestational age, Dental malocclusion, Slender long bone, Poly... OMIM:612731
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse goiter, Activat... ORPHA:424
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Combined Pituitary Hormone Deficiencies, Genetic Forms
Fatigue, Pituitary dwarfism, Growth delay, Constipation, Hypotension, Delayed puberty, Median cle... ORPHA:95494
Familial Gestational Hyperthyroidism
Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor... ORPHA:99819
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Feeding difficulties, Recurrent Staphylococcus aureus infections, Dysph... ORPHA:642
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Gerstmann-Straussler Disease
Weight loss OMIM:137440
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) Il10rbtm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Il10rbtm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Il10rbtm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Il10rbtm1a(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
Il10tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Il10tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Il10tm41047(L1L2_st0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Il10tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter